Journal Article
Amram Benjamin, Klempner Uri, Leibler Yehuda, Greenbaum Dov. In Their Own Image: Ethical Implications of the Rise of Digital Twins/Clones/Simulacra in Healthcare. The American Journal of Bioethics. 2023;23(9):79-81. Available from:
https://doi.org/10.1080/15265161.2023.2237456
Journal Article
Moreno Palmira Granados, Knoppers Terese, Zawati Ma’n H., Lang Michael, Knoppers Bartha M., Wolfson Michael, et al. Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context. Hum Genet. 2023;142(7):981-994. Available from:
https://doi.org/10.1007/s00439-023-02576-8
Risk prediction models hold great promise to reduce the impact of cancer in society through advanced warning of risk and improved preventative modalities. These models are evolving and becoming more complex, increasingly integrating genetic screening data and polygenic risk scores as well as calculating risk for multiple types of a disease. However, unclear regulatory compliance requirements applicable to these models raise significant legal uncertainty and new questions about the regulation of medical devices. This paper aims to address these novel regulatory questions by presenting an initial assessment of the legal status likely applicable to risk prediction models in Canada, using the CanRisk tool for breast and ovarian cancer as an exemplar. Legal analysis is supplemented with qualitative perspectives from expert stakeholders regarding the accessibility and compliance challenges of the Canadian regulatory framework. While the paper focuses on the Canadian context, it also refers to European and U.S. regulations in this domain to contrast them. Legal analysis and stakeholder perspectives highlight the need to clarify and update the Canadian regulatory framework for Software as a Medical Device as it applies to risk prediction models. Findings demonstrate how normative guidance perceived as convoluted, contradictory or overly burdensome can discourage innovation, compliance, and ultimately, implementation. This contribution aims to initiate discussion about a more optimal legal framework for risk prediction models as they continue to evolve and are increasingly integrated into landscape for public health.
Journal Article
Lapointe Julie, Côté Jean-Martin, Mbuya-Bienge Cynthia, Dorval Michel, Pashayan Nora, Chiquette Jocelyne, et al. Canadian Healthcare Professionals’ Views and Attitudes toward Risk-Stratified Breast Cancer Screening. Journal of Personalized Medicine. 2023;13(7):1027. Available from:
https://www.mdpi.com/2075-4426/13/7/1027
Given the controversy over the effectiveness of age-based breast cancer (BC) screening, offering risk-stratified screening to women may be a way to improve patient outcomes with detection of earlier-stage disease. While this approach seems promising, its integration requires the buy-in of many stakeholders. In this cross-sectional study, we surveyed Canadian healthcare professionals about their views and attitudes toward a risk-stratified BC screening approach. An anonymous online questionnaire was disseminated through Canadian healthcare professional associations between November 2020 and May 2021. Information collected included attitudes toward BC screening recommendations based on individual risk, comfort and perceived readiness related to the possible implementation of this approach. Close to 90% of the 593 respondents agreed with increased frequency and earlier initiation of BC screening for women at high risk. However, only 9% agreed with the idea of not offering BC screening to women at very low risk. Respondents indicated that primary care physicians and nurse practitioners should play a leading role in the risk-stratified BC screening approach. This survey identifies health services and policy enhancements that would be needed to support future implementation of a risk-stratified BC screening approach in healthcare systems in Canada and other countries.
Journal Article
Muto Kaori, Nagai Akiko, Ri Izen, Takashima Kyoko, Yoshida Sachie. Is legislation to prevent genetic discrimination necessary in Japan? An overview of the current policies and public attitudes. J Hum Genet. 2023;:1-7. Available from:
https://www.nature.com/articles/s10038-023-01163-z
Genetic discrimination (GD) has not been discussed in East Asia as extensively as in Europe and North America. Influenced by UNESCO’s universal declaration in 1997, the Japanese government took a stringent approach toward GD by releasing the Basic Principles on Human Genome Research in 2000. However, Japanese society has mostly been ignoring the prevention of GD for decades, and the principle of prohibiting GD was never adhered to in any of the Japanese laws. We conducted anonymous surveys among the general adult population in 2017 and 2022 to explore their experiences of GD and attitudes toward laws carrying penalties to prevent GD in Japan. In both years, approximately 3% of the respondents had experienced some unfavorable treatment regarding their genetic information. They showed higher recognition of the benefits of using genetic information and lower recognition of concerns about using genetic information and GD in 2022 than in 2017. However, the awareness regarding the need for legislation with penalties on GD had increased over the five-year period. In 2022, the framework of a bill to promote genomic medicine and prevent GD without any relevant penalties was released by the Bipartisan Diet Members Caucus. Considering that the absence of regulations may be a barrier to obtaining genomic medicine, as the initial step toward making the prohibition of GD more effective, legislation that no form of GD will be tolerated may stimulate education and awareness regarding respect for the human genome and its diversity.
Journal Article
Muto Kaori, Nagai Akiko, Ri Izen, Takashima Kyoko, Yoshida Sachie. Is legislation to prevent genetic discrimination necessary in Japan? An overview of the current policies and public attitudes. J Hum Genet. 2023;:1-7. Available from:
https://www.nature.com/articles/s10038-023-01163-z
Genetic discrimination (GD) has not been discussed in East Asia as extensively as in Europe and North America. Influenced by UNESCO’s universal declaration in 1997, the Japanese government took a stringent approach toward GD by releasing the Basic Principles on Human Genome Research in 2000. However, Japanese society has mostly been ignoring the prevention of GD for decades, and the principle of prohibiting GD was never adhered to in any of the Japanese laws. We conducted anonymous surveys among the general adult population in 2017 and 2022 to explore their experiences of GD and attitudes toward laws carrying penalties to prevent GD in Japan. In both years, approximately 3% of the respondents had experienced some unfavorable treatment regarding their genetic information. They showed higher recognition of the benefits of using genetic information and lower recognition of concerns about using genetic information and GD in 2022 than in 2017. However, the awareness regarding the need for legislation with penalties on GD had increased over the five-year period. In 2022, the framework of a bill to promote genomic medicine and prevent GD without any relevant penalties was released by the Bipartisan Diet Members Caucus. Considering that the absence of regulations may be a barrier to obtaining genomic medicine, as the initial step toward making the prohibition of GD more effective, legislation that no form of GD will be tolerated may stimulate education and awareness regarding respect for the human genome and its diversity.
Statute
Journal Article
Tiller Jane, Bakshi Andrew, Dowling Grace, Keogh Louise, McInerney-Leo Aideen, Barlow-Stewart Kristine, et al. Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing. Eur J Hum Genet. 2023;:1-9. Available from:
https://www.nature.com/articles/s41431-023-01373-1
Fears of genetic discrimination in life insurance continue to deter some Australians from genetic testing. In July 2019, the life insurance industry introduced a partial, self-regulated moratorium restricting the use of genetic results in underwriting, applicable to policies up to certain limits (eg AUD$500,000 for death cover).
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Journal Article
Canter Courtney, Foley Kathleen, Callier Shawneequa L., Meagher Karen M., Waltz Margaret, Washington Aurora, et al. The Slippery Slope of Prenatal Testing for Social Traits. Am J Bioeth. 2023;23(3):36-38.
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Journal Article
Genetic discrimination can be defined as discriminating against someone based on their DNA and genetic makeup. This form of discrimination often relates to a person's genetic predisposition to certain diseases or characteristics.1 Based on this definition, genetic discrimination might appear as a simplistic legal issue, but in reality, it has appeared to be a subject of great complexity amongst academics and policymakers.2 There has been a level of ambivalence around the meaning of genetic discrimination across a myriad of diverse contexts, including healthcare, insurance, employment, and sport. Due to this ambivalence, there has been an element of caution towards the application of genetic information in these contexts. The Human Genome Project, which was a global research effort to document the entire structure of a human's genetic makeup, recognised that significant issues can arise with utilising genetic testing in these contexts, particularly in the workplace.3 For example, a qualified job applicant may be denied the opportunity of employment due to their susceptibility to developing a genetic disease in the future. These issues associated with genetic discrimination has prompted a regulatory response within the last 20 years, which has sought to constrain the misuse of genetic information. Furthermore, like most new technologies, there is also the difficulty of creating a 'fit for purpose' regulatory framework that avoids introducing overly restrictive laws; to ensure there is a balance of interests between protecting individuals and allowing the field to continue to develop through scientific advancement.
Journal Article
Wang Zhong, Guo Yujun, Xu Rui. Attitude Disparity and Worrying Scenarios in Genetic Discrimination—Based on Questionnaires from China. Healthcare. 2023;11(2):188. Available from:
https://www.mdpi.com/2227-9032/11/2/188
Objectives: As genetic testing is increasingly used in non-medical fields, the judgment of people’s potential conditions based on predictive genetic information inevitably causes genetic discrimination (henceforth GD). This article aimed to systematically investigate the disparity in attitudes and worrying scenarios concerning GD in China. Methods: A questionnaire survey of 555 respondents was conducted. Statistical tests were used to examine disparity in attitudes between gender, age, and education. A descriptive analysis was also conducted to explore other worrying scenarios. Results: It shows that (1) men are more tolerant of GD compared to women, and (2) participants aged between 18 and 30 years old possess the highest objection to GD. However, (3) no indication can attest to the relationship between educational level and perspective on GD. In addition, (4) the acceptance of gene testing in the three most common scenarios is ranked in descending order as follows: partner choice, insurance services, and recruitment. Moreover, (5) worrying scenarios relating to GD include: education, social occasions, medical services, fertility, shopping, and so on. Conclusions: Based on the results, suggestions proposed include developing a blacklist mechanism in the field of genetic data application and strengthening the security regulations for the commercial use of genetic data.
Journal Article
Thaldar Donrich W., Edgcumbe Aliki. Frozen and forgotten: What are South African fertility clinics to do with surplus cryopreserved embryos once their patients lose interest?. Developing World Bioethics. 2023;n/a(n/a) Available from:
https://onlinelibrary.wiley.com/doi/abs/10.1111/dewb.12422
As is the case around the globe, South African fertility clinics face an ever-expanding problem: what to do with the growing number of surplus cryopreserved embryos. Fertility clinics remain hesitant to destroy these abandoned embryos, partly because of concerns about the legal ramifications. This article clarifies the legal position in South Africa and offers practical recommendations to assist fertility clinics in managing abandoned embryos. In sum, fertility clinics cannot deem embryos as abandoned and discard them if fertility patients fail to respond to a notice that the embryo storage agreement is about to expire. However, if there is non-payment for embryo storage by fertility patients and the fertility clinic has informed the fertility patients of other options available to them with respect to their embryos, and there is still no response, the fertility clinic is legally entitled – and legally obliged – to discard the embryos.
Journal Article
Tiller Jane, Lacaze Paul, Otlowski Margaret. The Australian moratorium on genetics and life insurance: evaluating policy compared to Parliamentary recommendations regarding genetic discrimination. Public Health Res Pract. 2022;32(4):3242235. Available from:
https://doi.org/10.17061/phrp3242235
Objectives and importance of study: Genetic discrimination is a health policy issue of international concern to clinicians, patients, researchers, and policy makers, and threatens the success of genomic medicine. In Australia, genetic discrimination in life insurance is legal and leads to public health harms, including deterring at-risk individuals from clinically indicated testing. In 2018, a Parliamentary Joint Committee recommended an urgent ban on the use of predictive genetic test results in life insurance underwriting in Australia, to be implemented in a form similar to the UK Code on genetic testing and life insurance. In 2019, the insurance industry, through the Financial Services Council (FSC), introduced a self-regulated moratorium that applies until 2024, but only to life insurance policies up to certain financial limits. The FSC moratorium will be reviewed in late 2022, but has no government oversight. STUDY TYPE: Policy implementation evaluation Methods: We used policy evaluation methods to 1) summarise the key recommendations of the 2018 Parliamentary Committee that are directed towards practical aspects of policy development and content; and 2) assess the level of disparity between the implemented moratorium and the recommendations of the Committee. RESULTS: There is a substantial disparity between the Australian moratorium and the Parliamentary Committee recommendations across key areas, including addressing self-regulation, co-development of policy, protection of tests taken during its term, and similarity with the UK Code. The FSC moratorium offers less protection to consumers than the UK Code on a number of measures, including the level of financial coverage, the involvement of government, certainty provided to individuals who have genetic testing, and the treatment of research results. CONCLUSIONS: The FSC moratorium is a step forward for Australia, but falls short of the Parliamentary recommendations. Further regulation by the Australian Government may be required to achieve the aims of the Parliamentary recommendations and ensure the intended level of consumer protection.
Journal Article
Ri Izen, Kawata Junichi, Nagai Akiko, Muto Kaori. Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan. J Hum Genet. 2022; Available from:
https://www.nature.com/articles/s10038-022-01100-6
Abstract Whole-genome sequencing (WGS) is being used in research and clinical settings in cancer genomics. Studies show that cancer patients generally have positive attitudes toward tumor profiling tests; however, few works revealed their attitudes toward WGS. This study clarifies the expectations, concerns, and result preferences of cancer patients (CPs), family members (FMs) and general adults (GAs) regarding WGS study in Japan. We conducted an anonymous survey with 1204 CPs, 5968 FMs, and 2915 GAs in 2021. Despite low awareness of the WGS studies, CPs had the highest expectations for it. FMs had a higher level of concern than CPs and GAs; feeling anxious by knowing the results, being treated unfavorably if germline findings were detected. Both the FMs and CPs were highly concerned about the protection of genetic information. CPs preferred results with actionability, however, only half preferred to know germline findings. Given the possibility of detecting variants across multidisciplinary diseases and the long-term continuity of WGS research, a system is needed in which study participants can consult and receive decision-making support at any time according to their needs.
Journal Article
It has been 25 years since the release of GATTACA, a film that tells the story of a credible near future in which society’s inequalities, formerly associated with race and class, have been replaced with new prejudices based on genetic determinism. Here we compare GATTACA’s fictional technologies with reality’s state of the art, assessing the legal protections afforded in today’s society against GATTACA’s dystopian future in which personal freedom and privacy rights are substantially curtailed by genomic innovations. We further discuss how GATTACA’s prescient forewarnings are still relevant today in light of the current trajectory of genomic science and technology.
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Edmonton police say they are using DNA phenotyping, for the first time in its history, in trying to solve a sexual assault.
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Journal Article
The use of predictive genetic testing, particularly for risk profiling in non-communicable diseases (NCDs), has the potential to benefit public health by decreasing the disease burden and alleviating the pressure on healthcare. It is thus important to assess knowledge and uptake among stakeholders. This study aimed to assess end users’ (community, medical practitioners and medical students) knowledge and attitudes regarding the use and support of genomic medicine. A descriptive crosssectional survey was conducted in Kwazulu-Natal (KZN) among 3 groups of stakeholders (n?=?170): medical practitioners from both private and public healthcare, medical students from UKZN and community members represented by teachers. Three structured questionnaires using a Likert scale were administered. Responses were stratified by practice type, and a scoring scale was developed. Principal component analysis (PCA) was used to reduce data on all constructs that made up each variable. All three groups showed adequate knowledge and a positive attitude towards use, apart from medical students who were not as keen to support future use in their own practice. Although medical practitioners supported the use of this technology, with necessary guidelines, expertise and affordability, only 18% from private practice reported having used it. PCA reduced data to fewer parsimonious constructs for all 3 groups: common threads included an awareness that genetic testing may improve health and disease outcomes; guidelines for use; and the provision of education to increase awareness, training to bolster expertise and confidence to use these services. Participants in this study attributed a lack of uptake to limited expertise and professional support, and a lack of legislative guidelines. We recommend updating continuing professional development for medical practitioners and promoting community education concomitantly. Provision of guidelines and increased accessibility to resources are important.
Journal Article
Dupras Charles, Knoppers Terese, Palmour Nicole, Beauchamp Elisabeth, Liosi Stamatina, Siebert Reiner, et al. Researcher perspectives on ethics considerations in epigenetics: an international survey. Clin Epigenet. 2022;14(1):110. Available from:
https://doi.org/10.1186/s13148-022-01322-7
Over the past decade, bioethicists, legal scholars and social scientists have started to investigate the potential implications of epigenetic research and technologies on medicine and society. There is growing literature discussing the most promising opportunities, as well as arising ethical, legal and social issues (ELSI). This paper explores the views of epigenetic researchers about some of these discussions. From January to March 2020, we conducted an online survey of 189 epigenetic researchers working in 31 countries. We questioned them about the scope of their field, opportunities in different areas of specialization, and ELSI in the conduct of research and knowledge translation. We also assessed their level of concern regarding four emerging non-medical applications of epigenetic testing—i.e., in life insurance, forensics, immigration and direct-to-consumer testing. Although there was strong agreement on DNA methylation, histone modifications, 3D structure of chromatin and nucleosomes being integral elements of the field, there was considerable disagreement on transcription factors, RNA interference, RNA splicing and prions. The most prevalent ELSI experienced or witnessed by respondents were in obtaining timely access to epigenetic data in existing databases, and in the communication of epigenetic findings by the media. They expressed high levels of concern regarding non-medical applications of epigenetics, echoing cautionary appraisals in the social sciences and humanities literature.
Journal Article
Cowan James S., Kagedan Barbara Laine, Graham Gail E., Heim-Myers Bev, Bombard Yvonne. Health care implications of the Genetic Non-Discrimination Act: Protection for Canadians’ genetic information. Canadian Family Physician. 2022;68(9):643-646. Available from:
https://www.cfp.ca/content/68/9/643
In July 2020 the Supreme Court of Canada (SCC)[1][1] upheld the constitutionality of Canada’s Genetic Non-Discrimination Act (GNDA),[2][2] a law that was enacted in 2017 but under a cloud, as its opponents contested it in the courts. The SCC’s decision established that the law and its
Journal Article
Cuda Suzanne, Censani Marisa, Kharofa Roohi, Williams Dominique R., O'Hara Valerie, Karjoo Sara, et al. Social consequences and genetics for the child with overweight and obesity: An obesity medicine association (OMA) clinical practice statement 2022. Obesity Pillars. 2022;3:100032. Available from:
https://www.sciencedirect.com/science/article/pii/S2667368122000237
Background This Obesity Medicine Association (OMA) clinical practice statement (CPS) covers two topics: 1) genetics and 2) social consequences for the child with overweight and obesity. This CPS is intended to provide clinicians with an overview of clinical practices applicable to children and adolescents with body mass indices greater than or equal to the 85th percentile for their ages, particularly those with adverse consequences resulting from increased body mass. The information in this CPS is based on scientific evidence, supported by the medical literature, and derived from the clinical experiences of members of the OMA. Methods The scientific information and clinical guidance in this CPS is based upon referenced evidence and derived from the clinical perspectives of the authors. Results This OMA clinical practice statement details two topics: 1) genetics and 2) social consequences for the child with overweight and obesity. Conclusions This OMA clinical practice statement on genetics and social consequences for the child with overweight and obesity is an overview of current literature. The literature provides a roadmap to the improvement of the health of children and adolescents with obesity, especially those with metabolic, physiological, and psychological complications.
Journal Article
Direct-to-consumer (DTC) genetic testing is cheaper and more accessible than ever before. What is generally hidden from the consumer is the intention to combine, reuse, and resell this genetic information as powerful datasets. This financial gain is creating a competitive DTC market, reducing the price of whole genome sequencing (WGS) down to USD 299. Entering this transition from SNP based DTC testing to WGS DTC testing, individuals looking for access to their whole-genomic information face new privacy and security risks. We studied the ownership question of whole genomic data for 30 weeks, by conducting weekly community discussions and seminar series. Differences between WGS and other methods of consumer genetic tests are left unexplored by regulation, leading to the application of legal data anonymization methods on whole genome data, and questionable consent methods. Large representative genomic datasets are important for research and improve the standard of medicine and personalized care. However, this data can also be used by market players, law enforcement, and governments for surveillance, population analyses, marketing purposes, and discrimination. Here, we present a summary of the state of WGS DTC genetic testing and its current regulation, through community-based methods to expose dual-use risks in consumer facing biotechnologies.
Journal Article
Large-scale precision medicine research requires massive amounts of data representing people from all walks of life; thus, in the US, it is often multistate research. Significant legal and ethical quandaries arise as a result of the patchwork of laws states have enacted that may apply to research, are not preempted by federal law, and may impose requirements or provide participant rights and protections that differ from other states. Determining which state’s laws apply, and under what circumstances, is not solved by the transition to a single-IRB model and researchers cannot simply choose one state’s laws to apply uniformly. At a minimum, the current process of meeting each state’s requirements could be made more reliable and efficient. To fundamentally change this status quo, however, requires action at multiple levels. Federally, well-known gaps in the Genetic Information Nondiscrimination Act should be closed, and a coherent system of compensation for research injury—including non-physical injuries—should be developed. States should clarify which of their laws are intended to apply to research and work collaboratively to harmonize them. At the level of individual research projects, numerous policies and procedures could be standardized through authoritative guidelines. Examples include clarifying the scope of broad consent, understanding and upholding Certificates of Confidentiality, offering individual research results responsibly, and consistently disseminating aggregate results to participants and the public. Overall, development of a choice of law framework specific to the research context could significantly promote clarity and consistency.
Journal Article
Private companies have begun offering services to allow parents undergoing in-vitro fertilisation to screen embryos for genetic risk of complex diseases, including psychiatric disorders. This procedure, called polygenic embryo screening, raises several difficult scientific and ethical issues, as discussed in this Personal View. Polygenic embryo screening depends on the statistical properties of polygenic risk scores, which are complex and not well studied in the context of this proposed clinical application. The clinical, social, and ethical implications of polygenic embryo screening have barely been discussed among relevant stakeholders. To our knowledge, the International Society of Psychiatric Genetics is the first professional biomedical organisation to issue a statement regarding polygenic embryo screening. For the reasons discussed in this Personal View, the Society urges caution and calls for additional research and oversight on the use of polygenic embryo screening.
Journal Article
Since the human genome was first sequenced in 2003, millions of consumers and medical professionals have swarmed the field of medical genetics, seeking to peer into the crystal ball and see what their own, or their patients’, futures may hold. Also rushing in are direct-to- consumer genetic testing companies like 23andMe and AncestryDNA, which can circumvent medical privacy laws by offering genetic testing without a medical provider. Medical privacy regulations, such as the Health Information Portability and Accountability Act of 1996 (HIPAA), the Genetic Information Discrimination Act of 2008 (GINA), and those promulgated by the Federal Trade Commission, do not regulate these companies adequately for a litany of reasons. These loopholes and shortcomings in regulation leave American consumers substantially less protected, less medically informed, and in some instances can jeopardize national security. This Note proposes that Congress should enact legislation overhauling the current regulatory regime in at least three ways: (1) the “covered entity” approach should be abandoned and replaced with a data-driven model; (2) the Safe Harbor provision of HIPAA should explicitly exclude genomic data; and (3) consumers should be given a “right to be forgotten” and compel companies to delete their data. These reforms would significantly strengthen consumers’ genetic privacy and give them an escape hatch to safeguard the core of their identity.
Journal Article
Buckenham Boyle Emily. Justice for Our Genes: The Case for Genetic Non-discrimination Regulations in the New Zealand Life Insurance Industry. J Law Med. 2022;29(3):760-782.
While most comparable jurisdictions have adopted more restrictive positions, life insurers in New Zealand remain permitted to request the disclosure of predictive genetic test results from applicants, driving up the cost to obtain life insurance for those with known susceptibilities to genetic disease. The permissive approach is now an outlier, and risks disincentivising health care and research innovation, facilitating irrational discrimination, and compounding existing health inequities. This article examines the New Zealand position through a consequentialist lens. It analyses justifications for the status quo, as well as international approaches, before concluding that genetic non-discrimination regulations governing New Zealand's life insurance industry should be introduced to enhance public wellbeing.
Journal Article
Wienroth Matthias, Amankwaa Aaron Opoku, McCartney Carole. Integrity, Trustworthiness, and Effectiveness: Towards an Ethos for Forensic Genetics. Genes. 2022;13(8):1453. Available from:
https://www.mdpi.com/2073-4425/13/8/1453
Forensic genetics comes under critical scrutiny when developments challenge previously accepted legal, ethical, social, and other boundaries. Forensic geneticists continue to build a knowledge culture within a community of practice that acknowledges ethical standards of conduct in both research and the societal application of forensic genetics. As the community further cements and extends its societal role, and in that process often pushing at ethical and legal boundaries, it requires a strong, resilient, and responsive ethos that, in setting clear parameters for conduct, fosters the field’s sense of purpose. While supra-national declarations and human rights protections, coupled with local regulations, provide some parameters for practice, and discipline-specific guidance has refined an agenda for forensic genetics research and application, this maturing field needs to now define its core principles. This contribution proposes the values of integrity, trustworthiness, and effectiveness as a foundational triptych for a bespoke forensic genetics ethos to ensure the augmentation of developments that range from a purely science-oriented to a wider societally relevant knowledge culture.
Journal Article
Dowling Grace, Tiller Jane, McInerney-Leo Aideen, Belcher Andrea, Haining Casey, Barlow-Stewart Kristine, et al. Health professionals’ views and experiences of the Australian moratorium on genetic testing and life insurance: A qualitative study. Eur J Hum Genet. 2022;:1-7. Available from:
https://www.nature.com/articles/s41431-022-01150-6
Australian life insurance companies can legally use genetic test results in underwriting, which can lead to genetic discrimination. In 2019, the Financial Services Council (Australian life insurance industry governing body) introduced a partial moratorium restricting the use of genetic testing in underwriting policies???$500,000 (active 2019–2024). Health professionals (HPs), especially clinical geneticists and genetic counsellors, often discuss the implications of genetic testing with patients, and provide critical insights into the effectiveness of the moratorium. Using a sequential explanatory mixed methods design, we interviewed 23 Australian HPs, who regularly discuss genetic testing with patients and had previously completed an online survey about genetic testing and life insurance. Interviews explored views and experiences about the moratorium, and regulation, in greater depth. Interview transcripts were analysed using thematic analysis. Two key themes emerged from views expressed by HPs during interviews (about matters reported to or observed by them): 1) benefits of the moratorium, and 2) concerns about the moratorium. While HPs reported that the moratorium reassures some consumers, concerns include industry self-regulation, uncertainty created by the temporary time period, and the inadequacy of the moratorium’s financial limits for patients’ financial needs. Although a minority of HPs felt the current industry self-regulated moratorium is an adequate solution to genetic discrimination, the vast majority (19/23) expressed concern with industry self-regulation and most felt government regulation is required to adequately protect consumers. HPs in Australia are concerned about the adequacy of the FSC moratorium with regards to consumer protections, and suggest government regulation is required.
Journal Article
Lehmann Lisa Soleymani, Sulmasy Lois Snyder, Burke Wylie, ACP Ethics Professionalism and Human Rights Committee*. Ethical Considerations in Precision Medicine and Genetic Testing in Internal Medicine Practice: A Position Paper From the American College of Physicians. Ann Intern Med. 2022;:M22-0743. Available from:
https://www.acpjournals.org/doi/10.7326/M22-0743
Journal Article
Khan Alyna T., Gogarten Stephanie M., McHugh Caitlin P., Stilp Adrienne M., Sofer Tamar, Bowers Michael L., et al. Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: Experiences from the NHLBI TOPMed program. Cell Genomics. 2022;:100155. Available from:
https://www.sciencedirect.com/science/article/pii/S2666979X22000921
How race, ethnicity, and ancestry are used in genomic research has wide-ranging implications for how research is translated into clinical care and incorporated into public understanding. Correlation between race and genetic ancestry contributes to unresolved complexity for the scientific community, as illustrated by heterogeneous definitions and applications of these variables. Here, we offer commentary and recommendations on the use of race, ethnicity, and ancestry across the arc of genetic research, including data harmonization, analysis, and reporting. While informed by our experiences as researchers affiliated with the NHLBI Trans-Omics for Precision Medicine (TOPMed) program, these recommendations are applicable to basic and translational genomic research in diverse populations with genome-wide data. Moving forward, considerable collaborative effort will be required to ensure that race, ethnicity, and ancestry are described and used appropriately to generate scientific knowledge that yields broad and equitable benefit.
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The new regulation aims to guarantee the protection of the right to equal treatment and non-discrimination. On 13 July 2022, the State...
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Journal Article
This article contributes to the policy dialogue about how to govern healthcare data in the AI era and how to incentivize patients to share their data. Existing approaches to data-sharing restrict the flow of data. Yet, as healthcare AI technologies rely on data in enhancing their scope, such lack of data hinders the creation of future applications and diminishes the need for data to furnish them. We shift attention to a GDPR based policy that does not restrict data flows and argue that the existing experience in monetizing digitalized copyright material such as music can offer a practical and well tested solution.
Journal Article
More than thirty years ago in the United States, the National Center for Human Genome Research (NCHGR) at the National Institutes of Health (NIH) and its partner in the Human Genome Project (HGP), the Department of Energy (DOE), called for proposals from social scientists, ethicists, lawyers, and others to explore the ethical, legal, and social implications (ELSI) of mapping and sequencing the human genome. Today, nearly twenty years after the completion of the HGP, the ELSI Research Program of the National Human Genome Research Institute (NHGRI) continues this support. It has fostered the growth of ELSI research into a global field of study, uniquely positioned at the nexus of many academic disciplines and in proximity to basic and applied scientific research. We examine the formation of the first ELSI program and consider whether science policy in the public interest can exist within the confines of a set-aside from the NHGRI budget.
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Ann was 15 weeks pregnant with her fourth child when the results of her prenatal genetic test indicated something was very wrong.
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Informed consent is a foundational ethical and legal principle in human subjects research and clinical care. Yet, there is extensive debate over how much information must be disclosed to meet ethical goals and legal requirements, especially about non-medical risks. In this online, survey-based experiment of a diverse sample of the US general population, we explored one aspect of this debate by testing whether the level of detail included in informed consent regarding genetic anti-discrimination protections alters individuals' willingness to participate in a hypothetical research study and their concerns regarding genetic discrimination. Participants were randomized to receive sample informed consent language with one of three levels of disclosure regarding the protections and limitations of the Genetic Information Nondiscrimination Act (GINA). Our sample (n = 1,195) had a mean age of 45.9 (SD = 17.9) years and 40% with ?high school education. Participants were 51.3% female and 36.7% non-Hispanic White. On average, those who received consent language with none of GINA's limitations highlighted were more willing to participate than those who were warned about various gaps in GINA. They also had significantly lower perceived risk of discrimination than those presented with the most information about limitations. Our study found that providing more comprehensive information about GINA notably lessened willingness to participate in the hypothetical studies, highlighting the need for clinicians and researchers to thoughtfully consider how to disclose anti-discrimination risks in informed consent.
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We interviewed professionals and stakeholders in genomic medicine to understand how they envision their field and argue for its importance. Their rhetoric constitutes a shared “genetic imaginary” where genomic medicine is at once exceptional, ordinary, and an ethical obligation. Genomic medicine is argued by our interviewees to be exceptional by virtue of novel scientific knowledge it offers and the resultant effects on clinical practice; ordinary in that it is just another way of understanding the body that leads straightforwardly to the evolution of healthcare; and an ethical obligation because it provides comprehensive insight and care that should be accessible to all people. Despite desires to make genomic medicine diverse, inclusive, and accessible – envisioning it working as a matter of social justice – we argue that there are structural constraints that impede this genetic imaginary from becoming a reality. We argue that genomic medicine must be actively shaped in ways that foster social justice so as not to perpetuate current and historical disparities in medicine.
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Journal Article
Al-Omari Amal, Al-Hussaini Maysa, Zahran Farah, Abdel-Razeq Hikmat. Ethical, legal, and sociocultural challenges of genomic research in Jordan: a mixed methods study in patients with breast cancer with Jordanian–Palestinian heritage. The Lancet. 2022;399:S26. Available from:
https://www.sciencedirect.com/science/article/pii/S0140673622011618
Background Breast cancer is a leading cause of morbidity and mortality in women worldwide. At King Hussein Cancer Center (KHCC), Amman, Jordan, 38% of breast cancer diagnoses are in women younger than 45 years, which might reflect a high prevalence of hereditary breast cancer. The aim of this study was to assess the contribution of germline mutations in BRCA1 and BRCA2 to breast cancer treated at KHCC. We also describe our experience in dealing with this delicate cultural issue in a tribal-based country with Palestinian–Jordanian family origins. Methods Patients treated at KHCC with stage I–IV breast cancer, with a high-risk profile according to US National Comprehensive Cancer Network guidelines, were invited to participate. Patients were interviewed for consent and had full autonomy to decide whether they wanted to know their test result, inform their treating physician, or have a copy of the result placed in their charts. Charts were reviewed for clinical data and tumour pathology. A 10 mL blood sample was obtained for DNA extraction. A detailed three-generation family history was obtained. BRCA sequencing was done at the Myriad Genetics laboratory using BRCAnalysis. BRCA mutations were classified as deleterious, suspected deleterious, variant of uncertain significance (VUS), or favour polymorphism (harmless). The report received for each mutation result contained a detailed description of level of risk associated with the involved variant and estimated lifetime risk of breast and ovarian cancer, risk of second breast cancer or subsequent ovarian cancer, and risk of cancer to first, second, and third-degree family members. Patients were invited to an ad-hoc clinic with the treating physician for disclosure of results and counselling about estimated cancer risk to patient and relatives. Interviews with patients were summarised as text and qualitiative analysis for common themes was done. Challenges encountered during patient consent and disclosure of results were documented, as well as proposed solutions. Ethical approval was granted by the KHCC Institutional Review Board (no 11 KHCC 63). Findings The first 102 patients to meet inclusion criteria were invited to participate in the study, of whom 100 enrolled and provided written informed consent. Two patients declined to participate (a response rate of 98%). Six participants were residents of the West Bank and treated at KHCC, and 66 were from families of Palestinian origin residing in Jordan. The remaining patients were Jordanians. Median age was 40 years (range 22–75). 20 patients had deleterious mutations and seven had suspected deleterious mutations in BRCA1 and BRCA2 genes. Seven VUS were detected. All patients with BRCA1 and BRCA2 mutations had a significant family history of breast or ovarian cancer. Nevertheless, many patients with a significant family history (62 of 100) tested negative for BRCA1 and BRCA2 mutations. Many ethical dilemmas were highlighted during patient encounters, mainly relating to the guarantee of confidentiality and privacy in a tribal-based culture, fears of false reassurance, autonomy versus beneficence, and the bounds of physician–patient confidentiality when relatives are at genetic risk of cancer. Potential insurance, employment, and social discrimination implications were also addressed with the patients before testing and in more detail after disclosure of positive mutation results, which flagged a legal void in local genetic testing and data protection regulations. Interpretation Our cohort showed an important incidence of deleterious and suspected deleterious BRCA1 and BRCA2 mutations, suggesting that genetic testing should be discussed and offered to patients with high-risk features. Many high-risk patients tested negative for BRCA1 and BRCA2 mutations, therefore future studies should aim to test for mutations in other breast cancer susceptibility genes (eg, CHEK2, PALB2, and BRIP1). Running culturally sensitive genetic research in a country with limited resources is a challenging exercise and highlights the urgent need for guiding regulations. We recommend establishing a clinical cancer genetics programme, through which unaffected family members would benefit from early breast cancer screening and appropriate risk-reduction measures. Funding Sister Institution Network Fund of MD Anderson Cancer Center and KHCC.
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The Life Insurance Association (Chairman: Yukinori Takada, President and CEO of Sumitomo Life Insurance (hereinafter referred to as the “Association”)) has prepared a document, in confirmation with its member companies, to inform the current handling of genetic information in underwriting and payment practices in the life insurance sector, and has published it on the Association's website.
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Genetic ancestry affects human health, but this is distinct from the impact of race, a social construct that has its foundations in systemic racism. These terms need to be better defined and understood in medical research to achieve health equity.
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On the 6th of April, the Japanese Association of Medical Sciences, the Japanese Medical Science Federation, and the Japan Medical Association held a joint press conference and issued a joint statement on 'Preventing unfair discrimination and social disadvantage by genetic and genomic information. ?The joint statement highlights that while whole-genome analysis research is currently being promoted as a national policy and genome analysis and genetic testing for patients and their relatives is rapidly being developed in the medical field, in Japan, the only rule for the handling of genetic and genome information is the Personal Information Protection Law. This is seen as a problem. If this situation persists, the possibility of patients and their families being subjected to unfair discrimination and social disadvantage based on genetic and genomic information will not be able to be dispelled, and there is a fear that this anxiety will spread not only amongst patients and their families but also among many healthy people who are currently unaware of the genetic link. The government, regulatory authorities, insurance companies and other businesses that may handle genetic and genomic information, as well as related organizations, are asked to implement the three points listed separately.
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In response to the "Joint Statement on the Prevention of Unfair Discrimination and Social Disadvantage due to Genetic and Genomic Information" issued by the Japan Medical Association, the Japan Association of Medical Sciences and the Japanese Medical Science Federation on April 6, 2022, the Japan Federation of Cancer Patient Groups and Genetic Alliance JP issued on the same day a “Joint Statement calling for legal regulations to prevent discrimination and social disadvantage due to genetic and genomic information".
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Journal Article
Huerne Katherine, Palmour Nicole, Wu Angela Ruohao, Beck Stephan, Berner Alison, Siebert Reiner, et al. Auditing the Editor: A Review of Key Translational Issues in Epigenetic Editing. The CRISPR Journal. 2022; Available from:
https://www.liebertpub.com/doi/10.1089/crispr.2021.0094
Currently, most advances in site-specific epigenetic editing for human use are concentrated in basic research, yet, there is considerable interest to translate this technology beyond the bench. This review highlights recent developments with epigenetic editing technology in comparison with the canonical CRISPR-Cas genome editing, as well as the epistemic and ethical considerations with preemptive translation of epigenetic editing into clinical or commercial use in humans. Key considerations in safety, equity, and access to epigenetic editing are highlighted, with a spotlight on the ethical, legal, and social issues of this technology in the context of global health equity.
Journal Article
Genetic testing to detect risk for conditions like certain cancers, and cardiac or neuro- logical conditions can save lives through early preventative interventions and/or improved targeted therapy. For diseases like inherited breast and ovarian cancers, a single mutation in a BRCA1/2 gene can run within families and predis- pose individuals to a high likelihood of developing cancer at a young age. Early screening and detec- tion, and prophylactic surgery, can dramatically reduce cancer risk. As genetic testing becomes more complex, it is often referred to as genomic testing, as we move from testing single genes to include all genes and other types of molecular testing.
Journal Article
van der Zwaan Kasper F., Mentink Marit D. C., Jacobs Milou, Roos Raymund A. C., de Bot Susanne T. Huntington's disease influences employment before and during clinical manifestation: A systematic review. Parkinsonism & Related Disorders. 2022;96:100-108. Available from:
https://www.sciencedirect.com/science/article/pii/S1353802022000554
Huntington's disease (HD) is an inherited neurodegenerative disease. People at risk for HD can choose to get predictive testing years before the clinical onset. HD is characterized by motor, cognitive and psychiatric symptoms and has a mean age at onset between 30 and 50 years, an age at which people are usually still working. This systematic review focuses on summarizing which disease-specific characteristics influence employment and working capacity in HD. Twenty-three studies were identified and showed that while employment and working capacity in HD are negatively influenced by cognitive decline and motor impairments, apathy already plays a role in the prodromal stage. Moreover, the influence of HD transcends the clinical manifestation of the disease, as some people at risk are already experiencing the impact of HD on employment through fear of or actual genetic discrimination. Employment and working capacity are not influenced by predictive testing for HD in and of itself.
Journal Article
Kostick-Quenet Kristin, Mandl Kenneth D., Minssen Timo, Cohen I. Glenn, Gasser Urs, Kohane Isaac, et al. How NFTs could transform health information exchange. Science. 2022;375(6580):500-502. Available from:
https://www.science.org/doi/10.1126/science.abm2004
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New report examining how the genome can provide insights into people’s traits and behaviours beyond health, and how studying our DNA code presents both benefits and challenges to society.
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Sanghavi Kunal, Cohn Betty, Prince Anya E. R., Feero W. Gregory, Ryan Kerry A., Spector-Bagdady Kayte, et al. Voluntary workplace genomic testing: wellness benefit or Pandora’s box?. npj Genom. Med.. 2022;7(1):1-6. Available from:
https://www.nature.com/articles/s41525-021-00276-8
Consumer interest in genetic and genomic testing is growing rapidly, with more than 26 million Americans having purchased direct-to-consumer genetic testing services. Capitalizing on the increasing comfort of consumers with genetic testing outside the clinical environment, commercial vendors are expanding their customer base by marketing genetic and genomic testing services, including testing for pharmacogenomic and pathogenic variants, to employers for inclusion in workplace wellness programs. We describe the appeal of voluntary workplace genomic testing (wGT) to employers and employees, how the ethical, legal, and social implications literature has approached the issue of genetic testing in the workplace in the past, and outline the relevant legal landscape. Given that we are in the early stages of development of the wGT market, now is the time to identify the critical interests and concerns of employees and employers, so that governance can develop and evolve along with the wGT market, rather than behind it, and be based on data, rather than speculative hopes and fears.
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Book Section
Gunnarsdóttir Hrefna Dögg, Cohen I. Glenn, Minssen Timo, Gerke Sara. The Ethics and Laws of Medical Big Data. In: Stefanini, Elisa; Liguori, Laura; Ienca, Marcello; Pollicino, Oreste; Andorno, Roberto, editors. The Cambridge Handbook of Information Technology, Life Sciences and Human Rights. Cambridge: Cambridge University Press; 2022. p. 48-55. Available from:
https://www.cambridge.org/core/books/cambridge-handbook-of-information-technology-life-sciences-and-human-rights/ethics-and-l...
The COVID-19 pandemic has highlighted that leveraging medical big data can help to better predict and control outbreaks from the outset. However, there are still challenges to overcome in the 21st century to efficiently use medical big data, promote innovation and public health activities and adequately protect individuals’ privacy. The metaphor that property is a “bundle of sticks” applies equally to medical big data. Understanding medical big data in this way raises a number of questions, including: Who has the right to make money off its buying and selling, or is it inalienable? When does medical big data become sufficiently stripped of identifiers that the rights of an individual concerning the data disappear? How have different regimes such as the General Data Protection Regulation in Europe and the Health Insurance Portability and Accountability Act in the US answered these questions differently? In this chapter, we will discuss three topics: (1) privacy and data sharing, (2) informed consent, and (3) ownership.
Journal Article
Arych Mykhailo, Joly Yann. Genetic Discrimination in Access to Life Insurance: Does Ukrainian Legislation Offer Sufficient Protection against the Adverse Consequences of the Genetic Revolution to Insurance Applicants?. Laws. 2021;11(1):2. Available from:
https://www.mdpi.com/2075-471X/11/1/2
This paper presents an inter-disciplinary study of the risk for, and protections against, genetic discrimination in access to life insurance in Ukraine. It aims (i) to review questions related to genetic information, health status, and family history currently included in Ukrainian life insurance application forms; (ii) to analyze the Ukrainian legislation related to equity and nondiscrimination and to determine whether it provides adequate protection against genetic discrimination (GD). Research findings of our insurance application forms review show that Ukrainian life insurance companies ask broad questions about health and family history that may be perceived by applicants as requiring the disclosure of their genetic information. Our legal analysis shows that today there are no genetic specific law protecting Ukrainians people against GD in insurance. However, Ukrainian human rights legislation provides some protection against multiple grounds of discrimination and given the ratification by Ukraine of the European Convention on Human Rights it is possible that these grounds could be interpreted by tribunals as also including genetic characteristics. As a next step, Ukrainian researchers should develop a survey to obtain much needed data on the incidence and impact of GD in Ukraine. Following this it will be possible for policymakers to better assess whether there is a need for an explicit non-GD law in this country. Such a law would have the benefit of explicitly aligning Ukraine’s legal framework with that of many of its European partners.
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Seaver Laurie H., Khushf George, King Nancy M. P., Matalon Dena, Sanghavi Kunal, Vatta Matteo, et al. Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 2021;0(0) Available from:
https://www.gimjournal.org/article/S1098-3600(21)05379-X/fulltext
In this era of precision medicine, the incorporation of genetic and genomic information, herein referred to as genetic information, into health care has gained unprecedented attention. As a result of the rapid decline in the cost of DNA sequencing, these data are now routinely used for diagnostic purposes and preventive health screening. In addition to the application of genetic information to support diagnosis and management, consumers may directly access various genetic testing–based products for medical and nonmedical uses, and some employers now offer wellness genetic testing to their employees as a benefit. In a study published nearly 30 years ago, Billings et al. documented discrimination based on genetic diagnosis, test results, or family history in a variety of social institutions. The first American College of Medical Genetics and Genomics (ACMG) points to consider document to address the prevention of unfair genetic discrimination based on genetic disease risk was published 10 years later and focused on discrimination in health insurance and employment. In this updated document, we review the progress made by summarizing current federal legislative protections noting real and potential gaps and expand the dialogue concerning genetic discrimination by considering representative areas of social justice, equity, and life and disability insurance. Issues surrounding genetic discrimination are based on real and perceived ability of others to access individuals’ genetic information and use it to harm or unfairly disadvantage them. In this way, informed consent, privacy, and security of genetic information are related issues requiring ongoing attention as more data are generated, shared, and stored. We address just a few representative areas to illustrate present and future considerations to prevent unfair genetic discrimination.
Journal Article
Genomic research and its applications are no longer reserved for individuals and families with rare diseases. The military has begun to take a more active interest in the real- world insights genomics can give. For example, genomics, combined with other health and -omics data, can further our understanding human perfor-mance under exigent conditions of heat, stress, sleep deprivation and more. Most notably, this has been the case with the US Air Force, whose MilSeq project is among the forerunners in examining the clinical, scientific and ethical issues that incorporating genomics into the military poses
Journal Article
Dupras Charles, Bunnik Eline M. Toward a Framework for Assessing Privacy Risks in Multi-Omic Research and Databases. The American Journal of Bioethics. 2021;21(12):46-64. Available from:
https://doi.org/10.1080/15265161.2020.1863516
While the accumulation and increased circulation of genomic data have captured much attention over the past decade, privacy risks raised by the diversification and integration of omics have been largely overlooked. In this paper, we propose the outline of a framework for assessing privacy risks in multi-omic research and databases. Following a comparison of privacy risks associated with genomic and epigenomic data, we dissect ten privacy risk-impacting omic data properties that affect either the risk of re-identification of research participants, or the sensitivity of the information potentially conveyed by biological data. We then propose a three-step approach for the assessment of privacy risks in the multi-omic era. Thus, we lay grounds for a data property-based, ‘pan-omic’ approach that moves away from genetic exceptionalism. We conclude by inviting our peers to refine these theoretical foundations, put them to the test in their respective fields, and translate our approach into practical guidance.
Journal Article
Lenartz Andrea, Scherer Aaron M., Uhlmann Wendy R., Suter Sonia M., Anderson Hartley Colleen, Prince Anya E. R. The persistent lack of knowledge and misunderstanding of the Genetic Information Nondiscrimination Act (GINA) more than a decade after passage. Genetics in Medicine. 2021;23(12):2324-2334. Available from:
https://www.nature.com/articles/s41436-021-01268-w
PURPOSE: More than a decade after the Genetic Information Nondiscrimination Act (GINA) was passed, there is a paucity of research on the general public's awareness of GINA. This study's objective was to assess knowledge of GINA and concerns of genetic discrimination. METHODS: A quota-based sample of US adults (N?=?421) was recruited via Qualtrics Research Services to complete an online survey. RESULTS: Overall, participants had a mean age of 43.1 (SD = 13.9), 51.8% identified as female, 63.1% identified as non-Hispanic White, and 38.4% had ?4-year college degree. Respondents reported relatively low subjective knowledge of GINA (M = 3.10, SD = 1.98; 7-point Likert scale). Among respondents reporting high subjective knowledge of GINA (16.2%), 92.6% incorrectly reported or did not know that GINA does not covers life, long-term care, and disability insurance, and this number was 82.4% for auto or property insurance. Respondents were relatively likely to decline genetic testing due to concerns about results being used to determine eligibility for employment (M = 4.68, SD = 1.89) or health insurance (M = 4.94, SD = 1.73). There were few consistent demographic associations with either subjective or objective knowledge of GINA. CONCLUSION: This study highlights continued public concern about genetic discrimination and a lack of awareness and understanding of GINA and its scope of protections.
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Knoppers Terese, Beauchamp Elisabeth, Dewar Ken, Kimmins Sarah, Bourque Guillaume, Joly Yann, et al. The omics of our lives: practices and policies of direct-to-consumer epigenetic and microbiomic testing companies. New Genetics and Society. 2021;0(0):1-29. Available from:
https://doi.org/10.1080/14636778.2021.1997576
While much attention has gone towards ethical, legal, and social implications of direct-to-consumer genetic testing over the past decades, the rise of new forms of consumer omics has largely escaped scrutiny. In this paper, we analyze the product descriptions, promotional messages, terms of service, and privacy policies of five epigenetic and seven microbiomic testing companies. The advent of such tests online represents a significant shift in consumer omics, from a focus on inherited molecules with genetic tests, to broader interest for information about the lives of individuals, such as chronological and biological age, exposures, and lifestyle. Building on previous literature about direct-to-consumer genetic testing, and taking this shift into account, we identify limitations, gaps and inconsistencies in current practices and policies of the new companies. Best practice standards and regulations applicable across different omic sample and data types is a necessary first step in the promotion of responsible consumer omics.
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Prince Anya E. R., Uhlmann Wendy R., Suter Sonia M., Scherer Aaron M. Genetic testing and insurance implications: Surveying the US general population about discrimination concerns and knowledge of the Genetic Information Nondiscrimination Act (GINA). Risk Management and Insurance Review. 2021;n/a(n/a) Available from:
https://onlinelibrary.wiley.com/doi/abs/10.1111/rmir.12195
Globally, due to public concerns of genetic discrimination, some countries and insurance industries have adopted policies restricting insurer use of genetic information, such as the US Genetic Information Nondiscrimination Act (GINA). This study reports on a combined analysis of two surveys assessing public knowledge of GINA and concerns of genetic discrimination in a diverse US sample (N = 1616). We focus on whether occupation, genetic testing history, and insurance status are correlated with knowledge of GINA or concerns of discrimination. While bivariate analysis identified some populations with higher subjective/objective knowledge and concern relative to counterparts, multivariable regression identified very few significant associations with outcomes of interest. Overall, this study highlights a lack of awareness and understanding of GINA, even among subpopulations hypothesized to have greater knowledge of the law. These findings have implications for the broader debate around insurer use of genetic information.
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Polygenic Risk Score Task Force of the International Common Disease Alliance, Adeyemo Adebowale, Balaconis Mary K., Darnes Deanna R., Fatumo Segun, Granados Moreno Palmira, et al. Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps. Nat Med. 2021; Available from:
https://www.nature.com/articles/s41591-021-01549-6
Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human genome to estimate the risk of a disease or disease-related trait for an individual. The potential benefits of PRSs include cost-effective enhancement of primary disease prevention, more refined diagnoses and improved precision when prescribing medicines. However, these must be weighed against the potential risks, such as uncertainties and biases in PRS performance, as well as potential misunderstanding and misuse of these within medical practice and in wider society. By addressing key issues including gaps in best practices, risk communication and regulatory frameworks, PRSs can be used responsibly to improve human health. Here, the International Common Disease Alliance’s PRS Task Force, a multidisciplinary group comprising expertise in genetics, law, ethics, behavioral science and more, highlights recent research to provide a comprehensive summary of the state of polygenic score research, as well as the needs and challenges as PRSs move closer to widespread use in the clinic.
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Genetic discrimination (GD) is the differential or unfair profiling of an individual on the basis of genetic data. This article summarizes the actions of the Genetic Discrimination Observatory (GDO) in addressing GD and recent developments in GD since late 2020. It shows how GD can take many forms in today’s rapidly evolving society.
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Tiller Jane, Lacaze Paul. The A-GLIMMER project is looking for Australian consumers' views and perspectives on the implementation of the genetic and insurance moratorium. 2021. Available from:
https://redcap.link/aglimmer.consumer
Many people are concerned about the use of genetic information by life insurers. Researchers from Monash University are keen to understand the views and experiences of Australian consumers. These include people who have had genetic testing as well as people who are eligible but choose not to have genetic testing. The findings of this research will contribute to a report to the Australian government regarding the current regulation of life insurers. Your participation will assist with gathering critical data on the views and experiences of consumers. 1. Please consider completing this important survey, whatever experience you have had with life insurance and genetic testing. You can remain anonymous if you wish. 2. Please also consider forwarding this survey link to your family members who may have had or considered having a test. You can access the survey here: https://redcap.link/aglimmer.consumer. In the beginning, you will find more information about the study and an explanatory statement. For any queries regarding this research, don't hesitate to contact the research coordinator, Jane Tiller, on jane.tiller@monash.edu.
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California’s governor recently signed SB 41 into law. The bill enacts the Genetic Information Privacy Act (GIPA). The governor rejected a similar bill last year over concerns about COVID-19 public health efforts. To address that concern, this bill exempts tests used to diagnose whether an individual has a specific disease.
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Debates surrounding genetic privacy have taken on different forms over the past 30 years. Taking genetic privacy to mean an interest that individuals, families, or even communities have with respect to genetic information, we examine the metaphors used in these debates to chronicle the development of genetic privacy. In 1990–2000, we examine claims for ownership and of ‘humanity’ spurred by the launch of the Human Genome Project and related endeavors. In 2000–2010, we analyze the interface of law and ethics with research infrastructures such as biobanks, for which notions of citizenship and ‘public goods’ were central. In 2010–2020, we detail the relational turn of genetic privacy in response of large international research consortia and big data. Although each decade had its leading conceptions of genetic privacy, the subject is neither strictly chronological nor static. We conclude with reflections on the nature of genetic privacy and the necessity to bring together the unique and private genetic self with the human other.
Journal Article
China has no special legislation on biobanks, and it regulates these banks by several different laws and regulations. In the past 15 years, China's biobanks have collected a large number of biological samples. The law gives many institutions the right to store and use biological samples; however, due to the absence of government regulation, lack of ethical norms, and unclear legal provisions, the risks related to biosafety are rising. In terms of informed consent, China's current legislation clearly defines the scope and standard of “informed consent,” but the corresponding boundaries are still vague, and there are loopholes in practical operation. In terms of privacy and confidentiality, Chinese laws do not specify the ownership of genetic information. In the event of genetic risk, Chinese doctors often tell the family members of patients about genetic information. In terms of cross-border supervision of biological samples, the Chinese government not only regulates the entry of biological samples, but also controls the exit of biological samples. In recent years, the corresponding law enforcement and punishment efforts have increased. In terms of trust, China's biobanks often rely on hospitals. Against the background of tense doctor-patient relationships, biological sample donors do not trust hospitals, which is unfortunate because biological sample donors often donate out of their trust in doctors. In terms of benefit sharing, China's legal system still lacks clear provisions, and there are disputes about the mode and subject of benefit sharing. In China's future legislative revision(s), the above aspects should be improved, the ethical traditions of China's “patriarchal system” should be considered, and a biobanking system in line with China's national conditions should be formulated.
Journal Article
The purpose of the research study is to investigate the implications peculiarities of genetic testing in insurance for non-EU insurance markets as a part of the European integration process. The research model was developed by reviewing the previous studies in the area of genetic testing in insurance. Also, it was applying the correlation-regression analysis for defining the relationship between the causes of death and life insurance market competitiveness in the context of genetic testing in insurance implications for non-EU insurance markets as a part of the European integration process. The originality of the study is explained by the fact that it was described the genetic testing in insurance implications for non-EU insurance markets as a part of the European integration process; secondly, for the first time was conducted the correlation-regression analysis of the interconnection of causes of death and life insurance market competitiveness (case study of Ukrainian insurance market) in the context of genetic testing in insurance implications for non-EU insurance markets as a part of the European integration process). The scientific value of the research results also is explained vie the possibility of apply these findings for start to regulate the using of the genetic testing for risk assessment at the Ukrainian life insurance market and in others European countries that are not members of the EU and in EU countries that do not have any specific regulations in the area of applying genetic testing technologies for risk assessment in insurance.
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Tiller Jane M., Keogh Louise A., McInerney-Leo Aideen M., Belcher Andrea, Barlow-Stewart Kristine, Boughtwood Tiffany, et al. A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium. Journal of Medical Genetics. 2021; Available from:
https://jmg.bmj.com/content/early/2021/09/20/jmedgenet-2021-107989
Background In 2019, the Australian life insurance industry introduced a partial moratorium (ban) limiting the use of genetic test results in life insurance underwriting. The moratorium is industry self-regulated and applies only to policies below certain financial limits (eg, $500 000 of death cover). Methods We surveyed Australian health professionals (HPs) who discuss genetic testing with patients, to assess knowledge of the moratorium; reported patient experiences since its commencement; and HP views regarding regulation of genetic discrimination (GD) in Australia. Results Between April and June 2020, 166 eligible HPs responded to the online survey. Of these, 86% were aware of the moratorium, but <50% had attended related training/information sessions. Only 16% answered all knowledge questions correctly, yet 69% believed they had sufficient knowledge to advise patients. Genetics HPs’ awareness and knowledge were better than non-genetics HPs’ (p<0.05). There was some reported decrease in patients delaying/declining testing after the moratorium’s introduction, however, 42% of HPs disagreed that patients were more willing to have testing post-moratorium. Although many (76%) felt the moratorium resolved some GD concerns, most (88%) still have concerns, primarily around self-regulation, financial limits and the moratorium’s temporary nature. Almost half (49%) of HPs reported being dissatisfied with the moratorium as a solution to GD. The majority (95%) felt government oversight is required, and 93% felt specific Australian legislation regarding GD is required. Conclusion While the current Australian moratorium is considered a step forward, most HPs believe it falls short of an adequate long-term regulatory solution to GD in life insurance.
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Alarie Samuel, Hagan Julie, Dalpe Gratien, Faraji Sina, Mbuya-Bienge Cynthia, Nabi Hermann, et al. Risk-Stratified Approach to Breast Cancer Screening in Canada: Women’s Knowledge of the Legislative Context and Concerns about Discrimination from Genetic and Other Predictive Health Data. Journal of Personalized Medicine. 2021;11(8):726. Available from:
https://www.mdpi.com/2075-4426/11/8/726
The success of risk-stratified approaches in improving population-based breast cancer screening programs depends in no small part on women’s buy-in. Fear of genetic discrimination (GD) could be a potential barrier to genetic testing uptake as part of risk assessment. Thus, the objective of this study was twofold. First, to evaluate Canadian women’s knowledge of the legislative context governing GD. Second, to assess their concerns about the possible use of breast cancer risk levels by insurance companies or employers. We use a cross-sectional survey of 4293 (age: 30–69) women, conducted in four Canadian provinces (Alberta, British Colombia, Ontario and Québec). Canadian women’s knowledge of the regulatory framework for GD is relatively limited, with some gaps and misconceptions noted. About a third (34.7%) of the participants had a lot of concerns about the use of their health information by employers or insurers; another third had some concerns (31.9%), while 20% had no concerns. There is a need to further educate and inform the Canadian public about GD and the legal protections that exist to prevent it. Enhanced knowledge could facilitate the implementation and uptake of risk prediction informed by genetic factors, such as the risk-stratified approach to breast cancer screening that includes risk levels.
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Kim Hannah, Ho Calvin W. L., Ho Chih-Hsing, Athira P. S., Kato Kazuto, De Castro Leonardo, et al. Genetic discrimination: introducing the Asian perspective to the debate. npj Genom. Med.. 2021;6(1):1-8. Available from:
https://www.nature.com/articles/s41525-021-00218-4
Our article aims to provide a comprehensive portrayal of how seven Asian jurisdictions have sought to address the challenge of genetic discrimination (GD) by presenting an analysis of the relevant legislation, policies, and practices. Based on our findings, policy discussion and action on preventing or mitigating GD have been narrowly framed in terms of employment, insurance, disability, marriage, and family planning. Except for South Korea, none of the jurisdictions we examined has adopted specific legislation to prevent GD. However, for Asia to truly benefit from its recent scientific and technological progress in genomics, we highlight the need for these jurisdictions to engage more proactively with the challenges of GD through a coordinated regulatory and governance mechanism.
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Tiller Jane, Delatycki Martin B. Genetic discrimination in life insurance: a human rights issue. Journal of Medical Ethics. 2021;47(7):484-485. Available from:
https://jme.bmj.com/content/47/7/484
In this issue of Journal of Medical Ethics, Pugh1 offers a pluralist justice-based argument in support of the spirit, if not the precise letter, of the UK approach to the use of genetic test results (GTRs) to underwrite life insurance. We agree with Dr Pugh’s general contention that there is ethical and philosophical support for curtailment of insurers’ access to, and use of, applicants’ GTR in underwriting. However, we disagree with the contention that broad revisionary implications of certain theories of justice render them unpersuasive. In fact, despite the competing theories, the United Nations Universal Declaration on the Human Genome and Human Rights (UDHGHR) has already made a clear statement on this issue. Article 6 of the Declaration,2 unanimously adopted in 1997 by 77 countries (including Australia and the UK), along with a resolution for its implementation,3 states, ‘No one shall be subjected to discrimination based on genetic characteristics that is intended to infringe or has the effect of infringing human rights, fundamental freedoms and human dignity.’ Further, Article 25 of the UN Convention on the Rights of Persons with Disabilities (CRPD) (which Australia and the UK have confirmed) prohibits discrimination against persons with disabilities in the provision of life insurance. These statements are not contingent on the acceptability of the degree of revisionary implications. They are clear, unambiguous statements about the obligations of signatory countries. Despite this, few countries have taken steps commensurate with this expectation, possibly due to the scale of changes required for proper ratification. However, genetic discrimination is recognised as one …
Journal Article
Anti-selection occurs when information asymmetry exists between an insurer and an applicant. When an applicant knows that they are at high risk of loss, but the insurer does not, the applicant may try to exploit this knowledge differential to secure insurance at a lower premium that does not match risk. Predictive genetic testing could lead to anti-selection if individuals, but not insurers, learn of genetic risk. Yet, to address fear of discrimination, several countries have, or are considering, limitations on insurers’ use of predictive genetic test results.In this paper, we discuss anti-selection theory and modeling and illustrate how regulation regarding insurer use of predictive genetic test results could impact anti-selection in insurance markets. The extent of this impact turns on how much individuals alter their insurance purchasing behavior following predictive genetic testing. At first blush it may seem likely that those who learn that they are at high-risk of a genetic condition would attempt to gain greater coverage. However, we highlight several domains of on-the-ground realities that challenge this baseline assumption. These real-world considerations should be incorporated into modeling of anti-selection to truly assess the potential impacts of regulation limiting insurer use of predictive genetic testing.
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On Friday, Maryland enacted a law to regulate the use of forensic genetic genealogy — a technique used by law enforcement to identify suspects by analyzing their relatives’ DNA and constructing “family trees.” The law,
Journal Article
Medical knowledge is a powerful instrument that is meant for individual and collective good. Since the time of Hippocrates, we have known it should never be abused, even if serious misuses have occurred in modern history. Among the most recent examples of harm is the compulsory collection of DNA samples from ordinary people being carried out by the Chinese authorities in Xinjiang province as part of a programme of surveillance and control. As members of ESHG, professionals working in genetics and genomics, we feel that we must point out the damage that such a collection may cause: first to those directly affected, but also to the reputation of academic and healthcare institutions (including ethics committees), companies and publishers, and the image of genetics in the wider world. Such abuses of genetic tests and DNA collection may damage the trust citizens put into genetics and the promise of personalised medicine, and thus could impair the future of genetic research and healthcare overall.
Journal Article
Wauters Annet, Van Hoyweghen Ine. Normalising life at risk of Huntington’s disease. A qualitative study of backgrounds and coping strategies of fears of genetic discrimination. Eur J Hum Genet. 2021;29(6):940-948. Available from:
http://www.nature.com/articles/s41431-021-00822-z
Studies in the sociology of genetics have shown how living with a predisposition to a genetic disorder often comes with significant psycho-social burdens and struggles. One of these struggles is the fear of genetic discrimination. Despite genetic non-discrimination regulations, research shows people still worry about being subjected to genetic discrimination. This article adds to this existing body of literature by showing why people still worry about genetic discrimination and how they cope with these worries. Our findings derive from an analysis of semi-structured, in-depth interviews with individuals at risk for Huntington’s disease (HD) in Belgium. Concerns of genetic discrimination are grounded in the participants’ family backgrounds. Our participants, having witnessed numerous events in which symptomatic relatives suffered discrimination and stigmatisation, expressed heightened fears of facing genetic discrimination. Further, this article provides insight into the strategies participants use to cope with these fears. Two ways of normalising life were identified—while some persist in keeping their genetic risk a secret, other participants explicitly choose to be transparent about their genetic risk, desiring a level of openness. However, while they want to ‘break’ with their family background, participants who choose to be open are still held back by their worries about genetic discrimination by organisational actors. ‘Normalising genetics’ appears to be particularly challenging considering the remaining stereotypes and stigma surrounding genetic diseases.
Journal Article
Tiller Jane, McInerney-Leo Aideen, Belcher Andrea, Boughtwood Tiffany, Gleeson Penny, Delatycki Martin, et al. Study protocol: the Australian genetics and life insurance moratorium—monitoring the effectiveness and response (A-GLIMMER) project. BMC Medical Ethics. 2021;22(1):63. Available from:
https://doi.org/10.1186/s12910-021-00634-2
The use of genetic test results in risk-rated insurance is a significant concern internationally, with many countries banning or restricting the use of genetic test results in underwriting. In Australia, life insurers’ use of genetic test results is legal and self-regulated by the insurance industry (Financial Services Council (FSC)). In 2018, an Australian Parliamentary Inquiry recommended that insurers’ use of genetic test results in underwriting should be prohibited. In 2019, the FSC introduced an industry self-regulated moratorium on the use of genetic test results. In the absence of government oversight, it is critical that the impact, effectiveness and appropriateness of the moratorium is monitored. Here we describe the protocol of our government-funded research project, which will serve that critical function between 2020 and 2023.
Journal Article
Iida Hiroshi, Muto Kaori. Japanese insurers’ attitudes toward adverse selection and genetic discrimination: a questionnaire survey and interviews with employees about using genetic test results. J Hum Genet. 2021;66(5):539-542. Available from:
https://www.nature.com/articles/s10038-020-00873-y
Since the 1990s, insurance has been the primary field focused on the social disadvantages of using genetic test results because of the concerns related to adverse selection. Although life insurance is popular in Japan, Japan does not currently have any regulations on the use of genetic information and insurers have largely kept silent for decades. To reveal insurers’ attitudes on the topic, we conducted an anonymous questionnaire survey with 100 insurance company employees and recruited nine interviewees from the survey respondents. We found that genetic discrimination is not generally considered as a topic of human rights. We also found that insurers have uncertain fears and concerns about adverse selection in terms of actuarial fairness but not regarding profits. When it comes to preparing guidelines on the use of genetic information by Japanese insurers, we believe that public dialog and consultation are necessary to gain understanding of the people.
Journal Article
Joly Yann, Dalpe Gratien, Gallois Hortense, Knoppers Bartha Maria, Turp Daniel. Erring In Law and In Fact: The Supreme Court of Canada’s Reference Re Genetic Non-Discrimination Act. Canadian Bar Review. 2021;99(1):172-192. Available from:
https://cbr.cba.org/index.php/cbr/article/view/4662
Genetic discrimination has been a public concern for decades but supported by limited evidence. Following a reference from the Quebec government, the Court of Appeal of Quebec considered sections 1 to 7 of the Genetic Non-Discrimination Act (GNDA) were ultra vires of Parliament’s criminal jurisdiction (2018). In a 5-4 decision, the Supreme Court of Canada upheld the validity of the GNDA (2020). We contend that the majority’s reasoning contains serious errors in law and fact, raising constitutional and scientific concerns. We believe the majority incorrectly determined both the pith and substance of the provisions and the reasoned apprehension of harm standard.
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Utah’s governor recently signed into law SB 227, creating the Genetic Information Privacy Act (GIPA). The law, which is anticipated to go into effect...
Journal Article
Tiller Jane, Winship Ingrid, Otlowski Margaret FA, Lacaze Paul A. Monitoring the genetic testing and life insurance moratorium in Australia: a national research project. Medical Journal of Australia. 2021;214(4):157. Available from:
https://onlinelibrary.wiley.com/doi/10.5694/mja2.50922
Genetic discrimination in life insurance is a longstanding issue in Australia,1,2 and has been the subject of two government inquiries.3,4 The use of genetic test results in underwriting continues to be self?regulated by the life insurance industry.5 In 2019, following Parliamentary Joint Committee recommendations,4 the industry voluntarily introduced a moratorium restricting the use of genetic test results in life insurance underwriting for polices worth up to AU$500 000. Although the moratorium is an important step, concerns remain around the financial limits, public awareness, lack of government oversight and compliance monitoring. The impact and effectiveness of the moratorium needs evaluation to inform the planned 2022 review. A new research project has been funded by the Australian Government’s Genomic Health Futures Mission to serve that important function.
Journal Article
The US federal Genetic Information Nondiscrimination Act (GINA) protects individuals against much health insurance and employment genetic discrimination, but by design does not protect in other realms. Individuals with certain genetic test results, such as women who test positive for pathogenic variants in hereditary breast and ovarian cancer genes like BRCA1 and BRCA2, may struggle to get life insurance. More generally, life, disability, and long-term care insurers have broad discretion over how to use genetic information from applicants.1 But, as of 1 July 2020, this is no longer the case in Florida—representing a significant shift in existing antidiscrimination protections.
Journal Article
Gregorio Danilo De, Aguilar-Valles Argel, Preller Katrin H., Heifets Boris Dov, Hibicke Meghan, Mitchell Jennifer, et al. Hallucinogens in Mental Health: Preclinical and Clinical Studies on LSD, Psilocybin, MDMA, and Ketamine. J. Neurosci.. 2021;41(5):891-900. Available from:
https://www.jneurosci.org/content/41/5/891
A revamped interest in the study of hallucinogens has recently emerged, especially with regard to their potential application in the treatment of psychiatric disorders. In the last decade, a plethora of preclinical and clinical studies have confirmed the efficacy of ketamine in the treatment of depression. More recently, emerging evidence has pointed out the potential therapeutic properties of psilocybin and LSD, as well as their ability to modulate functional brain connectivity. Moreover, MDMA, a compound belonging to the family of entactogens, has been demonstrated to be useful to treat post-traumatic stress disorders. In this review, the pharmacology of hallucinogenic compounds is summarized by underscoring the differences between psychedelic and nonpsychedelic hallucinogens as well as entactogens, and their behavioral effects in both animals and humans are described. Together, these data substantiate the potentials of these compounds in treating mental diseases.
Journal Article
Mbuya Bienge Cynthia, Pashayan Nora, Brooks Jennifer D., Dorval Michel, Chiquette Jocelyne, Eloy Laurence, et al. Women's Views on Multifactorial Breast Cancer Risk Assessment and Risk-Stratified Screening: A Population-Based Survey from Four Provinces in Canada. J Pers Med. 2021;11(2) Available from:
https://www.mdpi.com/2075-4426/11/2/95
Risk-stratified screening for breast cancer (BC) is increasingly considered as a promising approach. However, its implementation is challenging and needs to be acceptable to women. We examined Canadian women's attitudes towards, comfort level about, and willingness to take part in BC risk-stratified screening. We conducted an online survey in women aged 30 to 69 years in four Canadian provinces. In total, 4293 women completed the questionnaire (response rate of 63%). The majority of women (63.5% to 72.8%) expressed favorable attitudes towards BC risk-stratified screening. Most women reported that they would be comfortable providing personal and genetic information for BC risk assessment (61.5% to 67.4%) and showed a willingness to have their BC risk assessed if offered (74.8%). Most women (85.9%) would also accept an increase in screening frequency if they were at higher risk, but fewer (49.3%) would accept a reduction in screening frequency if they were at lower risk. There were few differences by province; however, outcomes varied by age, education level, marital status, income, perceived risk, history of BC, prior mammography, and history of genetic test for BC (all p ? 0.01). Risk-based BC screening using multifactorial risk assessment appears to be acceptable to most women. This suggests that the implementation of this approach is likely to be well-supported by Canadian women.
Journal Article
Along with the potential for breakthroughs in care and prevention, the search for genetic mechanisms underlying the spread and severity of coronavirus disease 2019 (COVID-19) introduces the risk of discrimination against those found to have markers for susceptibility. We propose new legal protections to mitigate gaps in protections under existing laws.
Journal Article
Numerous state laws and the federal Genetic Information Nondiscrimination Act (GINA) have been enacted to prevent or redress genetic discrimination in employment and health insurance, but laws protecting against genetic discrimination in life insurance have been less common and weak. Consequently, some individuals with a genetic risk of a serious illness have declined presymptomatic genetic testing, thereby decreasing their prevention and treatment options and increasing their mortality risk. In 2020, Florida became the first state to prohibit life insurance companies from using the results of presymptomatic genetic tests in underwriting. Although the law was “only” intended to prevent genetic discrimination, a possible or even likely consequence of the law will be to encourage timely genetic testing by at-rick individuals and thereby save lives.
Journal Article
Although artificial intelligence contributes to the improvement of health care systems, it also raises issues of accessibility without discrimination to health services, which is an essential element of the human right to health. Several international and European treaties, including the International Covenant on Economic, Social and Cultural Rights, protect the right to health. As a contracting state of this Covenant, Denmark is bound by its content. Danish{\textquoteright}s highly digitalized public sector, including health care, must therefore be assessed regarding the right to health, especially accessibility to everyone. We argue that digitalization is generally compatible with information accessibility in the Danish context. However, the country will need to be attentive to the situation of its vulnerable populations in order to avoid the propagation of bias and discrimination by artificial intelligence-driven health care. A transparent and safeguarded use of real-world data and data disaggregation may contribute to mitigate those risks.
Book Section
Ri Izen, Muto Kaori. Ethical Issues: Overview in Genomic Analysis and Clinical Context. In: Nakamura, Seigo; Aoki, Daisuke; Miki, Yoshio, editors. Hereditary Breast and Ovarian Cancer : Molecular Mechanism and Clinical Practice. Singapore: Springer; 2021. p. 259-279. Available from:
https://doi.org/10.1007/978-981-16-4521-1_17
This chapter discusses ethical, legal, and social issues (ELSI) centered around hereditary breast and ovarian cancer syndrome (HBOC). In the first half, we discuss ethical considerations in the context of decision-making on genetic testing, debates on incidental/secondary findings (IFs/SFs), and global trends in clinical and/or genetic data sharing, including with patients and their family members. In the second half, from the perspective of clinical ethics of cancer diagnosis and treatment, we introduce the importance of decision-making and care based on the shared decision-making (SDM) approach and practical points in prophylactic surgery. We also discuss dilemmas that arise regarding confidentiality between medical professionals and their patients. This includes disclosure of genetic information with genetic relatives, and challenges in family communication, in which carefully assessed and encouraging support may be needed for patients and family members.
Journal Article
The growing availability of genetic testing in the clinical, research, and direct-to-consumer realms has caused people to fear that they will be discriminated against for their genes. In response, Congress passed the Genetic Information Nondiscrimination Act (GINA), which prohibits the use of genetic information in much of health insurance and employment. Importantly, this prohibition does not apply to life, long-term care, and disability insurance. While these lines of insurance are not federally prohibited from using an individual’s genetic information, several states do regulate use of genetic information in these insurance lines. This paper presents a comprehensive 50-state survey on regulation of how life, long-term care, and disability insurers can use genetic information. Overall, it shows that the use of genetic information in these lines of insurance is still relatively unregulated and that the divergent strategies adopted across states are both weak and problematic. Consistent and even regulation, whether from the federal government or through model legislation, is needed to adequately protect insurers and families alike.
Journal Article
Dalpe Gratien, Pinkesz Miriam, Oliviero Elisabeth, Tolymbek Maria, Joly Yann. Genetic discrimination views in online discussion forums: Perspectives from Canadian forumites. Journal of Genetic Counseling. 2021;00:1-16. Available from:
https://onlinelibrary.wiley.com/doi/abs/10.1002/jgc4.1427
Recent advancements in genetic technologies have made genetic information increasingly sought out in a wide range of non-therapeutic contexts, which has increased the risk that such information be used to discriminate against individuals. Frequently, it is genetic counselors who have to respond to questions about genetic discrimination (GD) from worried patients. Here, we examine the general Canadian public's knowledge, attitudes, and concerns about GD through a comprehensive analysis and categorization of posts from selected Canadian online discussion forums. Overall, we collected 1,638 posts, from which we coded 694 posts originating from newspaper comment sections and Reddit posts that were categorized to yield 6 main themes that consistently concerned Canadian users on the topics of GD: (a) discussions centered around how insurance business practices can be affected by genetic information; (b) issues in employment; (c) ‘fear’ of genetic testing and eugenics; (d) preventive approaches such as law and human rights instruments; (e) the predictive value and privacy that should be conferred to genetic information; and (f) other ethical issues. Overall, discussions addressed risk stratification models applied to genetic information and personal insurance underwriting. We find that many forum users (aka forumites) fear GD in insurance and employment, consider genetic information private, and strongly support different legal approaches to prevent GD. However, we find dissension among forumites that may represent different advocacy groups such as insurers and employers. From these important concerns and social conceptions, we discuss issues that should be taken into consideration for the development of future policies and information campaigns addressing GD in Canada and other countries.
Journal Article
Dalpe Gratien, Pinkesz Miriam, Marrocco Gabriel, Joly Yann. Les enjeux québécois de la discrimination génétique : l’expérience d’un forum en ligne. Les ateliers de l'éthique / The Ethics Forum. 2021;15(1-2):4-38. Available from:
https://doi.org/10.7202/1077527ar
Empirical research regarding genetic discrimination (GD) in the province of Quebec is largely limited. As such, this study aims, through a qualitative methodology, to explore and collect the opinions, experiences and knowledge of Quebecers regarding GD. In accordance with the exploratory objectives of this study, we chose the online forum approach as a means to extract qualitative data that would most accurately represent the perspectives of the Quebec public on various themes relating to GD. Participants’ comments on the forum indicate that there are tangible fears concerning DG in Quebec as well as a need for social debate on this important issue, as an integral part of the genetic revolution and personalized healthcare.
Journal Article
Sanghavi Kunal, Feero W. Gregory, Mathews Debra J. H., Prince Anya E. R., Price Lori Lyn, Liu Edison T., et al. Employees’ Views and Ethical, Legal, and Social Implications Assessment of Voluntary Workplace Genomic Testing. Frontiers in Genetics. 2021;12 Available from:
https://www.frontiersin.org/article/10.3389/fgene.2021.643304
Employers have begun to offer voluntary workplace genomic testing (wGT) as part of employee wellness benefit programs, but few empirical studies have examined the ethical, legal, and social implications (ELSI) of wGT. To better understand employee perspectives on wGT, employees were surveyed at a large biomedical research institution. Survey respondents were presented with three hypothetical scenarios for accessing health-related genomic testing: via (1) their doctor; (2) their workplace; and 3) a commercial direct-to-consumer (DTC) genetic testing company. Overall, 594 employees (28%) responded to the survey. Respondents indicated a preference for genomic testing in the workplace setting (70%; 95% CI 66–74%), followed by doctor’s office (54%; 95% CI 50–58%), and DTC testing (20%; 95% CI 17–24%). Prior to participating in wGT, respondents wanted to know about confidentiality of test results (79%), existence of relevant laws and policies (70%), and privacy protection (64%). Across scenarios, 92% of respondents preferred to view the test results with a genetic counselor. These preliminary results suggest that many employees are interested and even prefer genetic testing in the workplace and would prefer testing with support from genetic health professionals. Confirmation in more diverse employer settings will be needed to generalize such findings.
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Data collected from genetic testing kits can help marketers, but a new study raises red flags over ethics, privacy and the potential for misinformation.
Journal Article
Golinghorst Dexter R., Prince Anya E. R. A survey of U. S. state insurance commissioners concerning genetic testing and life insurance: Redux at 27. J Genet Couns. 2020;29(6):928-935. Available from:
https://pubmed.ncbi.nlm.nih.gov/31850620/
Nearly three decades ago, scientists set out on one of the largest research endeavors in modern history-mapping the human genome. The research not only sparked new technologies and genetic tests, but also concomitant concerns regarding ethical, legal, and social implications of the technologies. These developments ultimately resulted in an expanded role for genetic counselors to educate consumers about the possible consequences of receiving genetic test results. In particular, many individuals undergoing testing worry that the resulting information could be used by social actors, such as life insurers, in harmful ways. Because life insurance is regulated at the state level, there is significant variability across the United States in laws and enforcement protecting consumers' genetic information. This article reports the results of a survey of U.S. state insurance commissioners regarding regulation of genetic testing and life insurance. The survey builds on a 1992 survey conducted by Jean E. McEwen et al. It returns to current U.S. state insurance commissioners to investigate changes in the climate surrounding genetic information use and risks of misuse within the insurance industry. In their 1992 survey, McEwen et al. found that: (a) genetic testing was not yet perceived to pose a significant problem for insurance rating, (b) life insurers had quite a bit of legal freedom to require and use genetic test results, and (c) insurance commissioners had received few consumers' complaints about the use of genetic information. Twenty-seven years later, our survey finds an increase in regulation protecting genetic information in insurance, but at a pace much slower than that of advances in new DNA technologies. This lag in policy to match technology increases potential risks for consumers. Our study further reveals certain inconsistencies in the letter of state law protecting consumers' genetic information and how state insurance commissioners apply that law. The study also shows that despite empirical evidence in the literature demonstrating consumer fear about genetic discrimination, consumers do not report these concerns to their state insurance commissioner. We suggest genetic counselors are key stakeholders who can help fill current gaps between consumers and the insurance industry.
Journal Article
On July 1, 2020, Florida became the first state to prohibit life insurance companies from using genetic information, defined as the results of predictive genetic tests, in underwriting unless the information is accompanied by a diagnosis of a medical condition. This policy is important because the federal Genetic Information Nondiscrimination Act (GINA) applies only to employment and health insurance. Life insurance is regulated by states, and no other state has enacted such bold legislation, in part because of highly effective lobbying by insurance companies. The new law represents a long-awaited opportunity and highlights the important role of physicians in shaping policies that promote health.
Journal Article
Gürsoy Gamze, Emani Prashant, Brannon Charlotte M., Jolanki Otto A., Harmanci Arif, Strattan J. Seth, et al. Data Sanitization to Reduce Private Information Leakage from Functional Genomics. Cell. 2020;183(4):905-917.e16. Available from:
https://www.cell.com/cell/abstract/S0092-8674(20)31233-2
The generation of functional genomics datasets is surging, because they provide insight into gene regulation and organismal phenotypes (e.g., genes upregulated in cancer). The intent behind functional genomics experiments is not necessarily to study genetic variants, yet they pose privacy concerns due to their use of next-generation sequencing. Moreover, there is a great incentive to broadly share raw reads for better statistical power and general research reproducibility. Thus, we need new modes of sharing beyond traditional controlled-access models. Here, we develop a data-sanitization procedure allowing raw functional genomics reads to be shared while minimizing privacy leakage, enabling principled privacy-utility trade-offs. Our protocol works with traditional Illumina-based assays and newer technologies such as 10x single-cell RNA sequencing. It involves quantifying the privacy leakage in reads by statistically linking study participants to known individuals. We carried out these linkages using data from highly accurate reference genomes and more realistic environmental samples.
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Researchers from the University of Michigan School of Public Health and the Jackson Laboratory for Genomic Medicine will lead an interdisciplinary, multi-institution study of the ethical, legal and social implications of workplace genomic testing in the United States. The study is funded through
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A study of Queensland health consumers has found most have relatively low levels of understanding and awareness of genetic testing, despite its significant potential to improve health outcomes.
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CLASP submitted these comments on October 13, 2020, to U.S. Citizenship and Immigration Services within the Department of Homeland Security calling on the agency to withdraw the proposed rules in their entirety.
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California’s “Genetic Information Privacy Act” (SB 980), vetoed on September 25, 2020 by Governor Gavin Newsom, would have established obligations for…
Journal Article
Concerns about genetic discrimination (GD) often surface when discussing research and innovation in genetics. Over recent decades, countries around the world have attempted to address GD using various policy measures. In this article, we survey these approaches and provide a critical commentary on their advantages and disadvantages. Our examination begins with regions featuring extensive policy-making activities (North America and Europe), followed by regions with moderate policy-making activities (Australia, Asia, and South America) and regions with minimal policy-making activities (the Middle East and Africa). Our analysis then turns to emerging issues regarding genetic testing and GD, including the expansion of multiomics sciences and direct-to-consumer genetic tests outside the health context. We additionally survey the shortcomings of current normative approaches addressing GD. Finally, we conclude by highlighting the evolving nature of GD and the need for more innovative policy-making in this area.
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Parliament passed the Genetic Non-Discrimination Act to make rules on genetic testing related to diseases. It made it a crime to force someone to get that testing, or share their results, to sign a contract or buy something. For example, insurance companies couldn’t make people get tested to get life insurance coverage. Parliament also made it a crime to collect, use, or share the results of someone’s genetic tests without their permission. Anyone breaking the rules could be fined up to $1 million or put in jail for up to five years, or both.
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ABI releases first ever annual report on Code on Genetic Testing and Insurance
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AI, Big Data and Machine Learning covers topics such as: Trends; Ownership/protection; Antitrust/competition laws; Board of Directors/governance; Implementation of AI/big data/machine learning into businesses; Civil liability; Criminal issues; Discrimination and bias; National security and military.
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Hong Kong’s first blueprint for developing genomic medicine has called for better regulation of how genetic information is used and tests are handled, especially ones people carry out themselves and can wrongly interpret.
Report
The rapid advancement in genomic medicine has presented huge potential in accurate diagnosis, personalised treatment and efficient surveillance of diseases. In view of the importance of genomic medicine to future medical development, the Secretary for Food and Health appointed the Steering Committee on Genomic Medicine (the Steering Committee) in December 2017 to lead the study on strategies for developing genomic medicine in Hong Kong. The Steering Committee recognised that with the dedicated work of passionate clinicians and researchers in the past few decades, high quality clinical services and impressive research outcomes on genomic medicine have been developed organically benefiting many patients in Hong Kong. Meanwhile, the opportunities presented by recent scientific breakthrough require a clear policy to steer and coordinate the efforts of various institutions, notably the Department of Health (DH), the Hospital Authority (HA), local universities, professional bodies and the private sector, in order to bring the development of clinical application and re
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The coronavirus, as we all know, has brought our economy to its knees. As the search for vaccines and treatments accelerates, geneticists are now looking to our genes to understand why some recover quickly or show no symptoms, while others die. To do so, they are searching DNA databases and cross-referencing them with COVID-19 cases. This research holds great promise for addressing the pandemic.
Journal Article
Joly Yann, Dalpe Gratien, Dupras Charles, Bévière-Boyer Bénédicte, de Paor Aisling, Dove Edward S., et al. Establishing the International Genetic Discrimination Observatory. Nat Genet. 2020;52(5):466-468. Available from:
https://www.nature.com/articles/s41588-020-0606-5
Genetic discrimination is one of the most pervasive challenges resulting from research and development in human genetics. To collaboratively study and prevent this ethical issue, we established an international Genetic Discrimination Observatory comprising a network of researchers and stakeholders from more than 19 jurisdictions.
Journal Article
Underhill-Blazey Meghan, Klehm Margaret R. Genetic Discrimination: The Genetic Information Nondiscrimination Act's Impact on Practice and Research. Clin J Oncol Nurs. 2020;24(2):135-137.
The Genetic Information Nondiscrimination Act of 2008 (GINA) provides federal safeguards to prohibit employer or insurance discrimination based on personal or familial genetic information or conditions. Awareness of the implications of genetic testing in individuals and families and of state and federal legislation in place for their protection is an essential component of oncology nursing practice. This article discusses the critical role of the oncology nurse in interacting with and providing information about GINA to patients in a cancer care setting engaged in genetic assessment.
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Epigenetic clocks are a fascinating new technology, but some potential applications are controversial
Journal Article
Over the past twenty-five years, international organizations have adopted human rights declarations in an attempt to address emerging ethical, legal and social concerns associated with genetic research and technologies. While these declarations point to important challenges and potential issues in genetics, the focus on genetics has been criticized for promoting the idea that there is something unique about our genes, and that therefore, they deserve special protections in our laws. It is also argued that this ‘genetic exceptionalism’ perspective has contributed to a reinvigoration of genetic essentialism and determinism. In this article, we add to this criticism by pointing out gaps and flaws in current gene-focused human rights declarations in light of recent developments in the field of epigenetics. First, we show that these documents do not provide guidance for a responsible governance of epigenetic data (e.g., privacy protection) and an ethical use of individual epigenetic information (e.g., nondiscrimination). This is particularly concerning given the interest recently demonstrated by insurance companies, forensic scientists and immigration agencies in using epigenetic clock technologies. Second, we argue that findings in epigenetics could contribute to the promotion of second- and third- generation human rights, i.e., respectively, economic, social and cultural rights, and solidarity rights. We conclude by calling for international bioethics and human rights organizations to pay greater attention to epigenetics and other postgenomic sciences in the coming years.
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Life insurers should be banned from using genetic testing results to determine rates or coverage, the next House speaker writes.
Journal Article
Phillips Mark, Molnár-Gábor Fruzsina, Korbel Jan O., Thorogood Adrian, Joly Yann, Chalmers Don, et al. Genomics: data sharing needs an international code of conduct. Nature. 2020;578(7793):31-33. Available from:
http://www.nature.com/articles/d41586-020-00082-9
More than 800 terabytes of genomic data are available to investigators all over the world, thanks to a major international project to identify the genetic traits associated with various types of cancer. Researchers involved have just published six papers in Nature. (Another 16 papers have been published elsewhere.)
Journal Article
We report previously undocumented evidence of genetic discrimination by Australian insurance companies, obtained through direct consumer reports. We surveyed 174 consumers with cancer-predisposing variants, recruited by cancer organisations Lynch Syndrome Australia and Pink Hope. Questions related to experiences accessing risk-rated insurance after genetic testing. Results indicate that both legal (permitted under current regulation) and illegal discrimination is occurring. Although some respondents had not applied for risk-rated insurance, or had insurance in place before genetic testing (n?=?100), those seeking new policies (n?=?74) commonly experienced difficulties obtaining insurance (86%, 64/74). Of those experiencing difficulties, 50% (32/64) had no prior history or symptoms of cancer, and had undertaken risk reduction through surveillance and/or preventative surgery. Seventy-seven percent (49/64) reported difficulties related to life insurance. Follow-up telephone interviews with four respondents further described cases of apparent illegal breaches. All reports of discrimination identified were, to our knowledge, previously unreported in the literature. The number of cases suggests a systemic problem with the Australian life insurance industry. We support calls for government oversight of the inherently conflicted model of industry self-regulation in Australia, and an immediate ban on the use of genetic test results in insurance underwriting.
Journal Article
Si la modification génétique constitutionnelle, par la technique Crispr, offre des perspectives prometteuses en matière d’avancées scientifiques dans le domaine de la santé, elle n’est pas sans dangers pour l’humanité. Elle peut produire des effets délétères pour les personnes génétiquement modifiées, y compris pour les générations à venir. La communauté internationale des chercheurs se mobilise par d’importantes discussions. Le grand public doit aussi être appelé à s’exprimer. La réflexion éthique précédant le droit, des premières pistes sont posées en 2020 par l’avis n° 133 du Comité consultatif national d’éthique et par la déclaration commune des comités d’éthique français, anglais, allemand. Le projet de loi de bioéthique, actuellement en discussion, apporte quelques éléments. Ces initiatives restent insuffisantes pour assurer la protection de la personne lors de cette révolution génétique majeure et risquée.
Journal Article
Big data and Artificial Intelligence (“AI”) are revolutionizing the ways in which firms, governments, and employers classify individuals. Insurers, for instance, increasingly set premiums based on complex algorithms that process massive amounts of data to predict future claims. Prospective employers deploy AI and big data to decide which applicants to interview or hire. And various actors within the criminal justice system—ranging from police departments to judges—now use predictive analytics to guide their decision-making.
Journal Article
New technologies, including genomics and precision medicine, are expanding the range of predictive health information. Employers interested in assessing the future health risks of prospective or current employees can gain access to information in an individual’s clinical record or can use algorithms to make their own predictions. When individuals have sub-clinical markers of future serious impairments, neither of the two main laws prohibiting discrimination in employment based on health status, the Americans with Disabilities Act (ADA) nor the Genetic Information Nondiscrimination Act (GINA) applies. The ADA does not apply to physical or mental impairments that are not currently a substantial limitation of a major life activity. GINA does not apply to conditions that have “manifested,” including physical changes detectable by a trained professional. Both statutes should be amended to prohibit forms of discrimination that were not contemplated when the legislation was enacted.
Book Section
Byk Christian. L’utilisation des tests génétiques dans le domaine de l’assurance en droit français et européen : une affaire d’assurance et de politique publique. In: Khoury, Lara; Blackett, Adelle; Vanhonnaeker, Lukas, editors. Genetic Testing and the Governance of Risk in the Contemporary Economy: Comparative Reflections in the Insurance and Employment Law Contexts. Cham: Springer International Publishing; 2020. p. 193-220. Available from:
http://link.springer.com/10.1007/978-3-030-43699-5
Presents a multi-jurisdictional, national, regional and international inquiry into the legal challenges posed by new biotechnologies in the fields of insurance and employment Offers unique comparative law discussions on discrimination, privacy and confidentiality of genetic information in the insurance and employment settings Analyzes the possibilities and limits of a human rights framework for assessing the governance of risk associated with modern developments in genetic testing
Book Section
Joly Yann, Marrocco Gabriel. Regulating the Use of Genetic Testing by Insurers and Employers in the Province of Quebec: Is the Genetic Non-Discrimination Act Really Necessary?. In: Khoury, Lara; Blackett, Adelle; Vanhonnaeker, Lukas, editors. Genetic Testing and the Governance of Risk in the Contemporary Economy: Comparative Reflections in the Insurance and Employment Law Contexts. Cham: Springer International Publishing; 2020. p. 269-292. Available from:
https://doi.org/10.1007/978-3-030-43699-5_12
Insurers and employers have become increasingly interested in the capacity of genetic information to predict future health outcomes. This trend has sparked fears that they may use this information to discriminate between individuals based on their genetic characteristics. Despite limited empirical evidence, concerns among some interest groups have prompted many G8 countries to adopt legislation to protect against genetic discrimination (GD), including Canada in 2017. Quebec was quick to challenge the constitutionality of the Genetic Non-Discrimination Act (GNDA) on the basis that the Canadian government exceeded its legislative power over criminal law, impinging on the provinces’ jurisdiction over local matters and property and civil rights. It argued that the provinces and territories are the competent legislators to enact such regulation, and that existing laws in Quebec make specific legislative action unnecessary. This chapter explores Quebec law pertaining to privacy, insurance, employment, and human rights and critically evaluates Quebecers’ current protections against GD, including that afforded by the GNDA. It also reviews Quebec’s constitutional challenge to this new Canadian legislation.
Journal Article
This chapter will map the ethical and legal challenges posed by artificial intelligence (AI) in healthcare and suggest directions for resolving them. Section 1 will briefly clarify what AI is and Section 2 will give an idea of the trends and strategies in the United States (US) and Europe, thereby tailoring the discussion to the ethical and legal debate of AI-driven healthcare. This will be followed in Section 3 by a discussion of four primary ethical challenges, namely, (1) informed consent to use, (2) safety and transparency, (3) algorithmic fairness and biases, and (4) data privacy. Section 4 will then analyze five legal challenges in the US and Europe: (1) safety and effectiveness, (2) liability, (3) data protection and privacy, (4) cybersecurity, and (5) intellectual property law. Finally, Section 5 will summarize the major conclusions and especially emphasize the importance of building an AI-driven healthcare system that is successful and promotes trust and the motto Health AIs for All of Us.
Journal Article
Resumo La posibilidad de detectar mutaciones genéticas con incidencia en la aparición de enfermedades es ya una realidad en muchos sistemas sanitarios, en los que se está experimentando una transformación desde la clásica medicina paliativa hacia una nueva medicina preventiva e individualizada, basada en la clasificación de individuos en función de su “riesgo genético”.El análisis genético es la herramienta clave en esta transformación, ya que permite determinar, cada vez con más precisión, rapidez y de manera más asequible, la presencia de factores de riesgo o incluso la futura aparición de una enfermedad.Se avanza así hacia el diagnóstico, el tratamiento y la terapia “a la carta”, diferente según el paciente o el grupo de pacientes. La genética es la ciencia que estudia estas particularidades y diferencias, de hecho, se le ha llegado a llamar la "ciencia de la desigualdad". Pero, al mismo tiempo, el análisis genético puede ser un instrumento muy útil en otros ámbitos donde interese también la valoración del riesgo, como el de la contratación de seguros. No existen publicaciones que constaten que en estos años se haya generado una situación de discriminación efectiva por razones genéticas en el ámbito de los seguros (se ha afirmado que los supuestos conocidos son anecdóticos)pero los avances en técnicas genéticas y su creciente disponibilidad, y de nuevas herramientas para el tratamiento masivo de información, hace que se mantenga abierta la reflexión y que subsista la preocupación. De hecho, en el año 2016 el Consejo de Europa publicó una Recomendación sobre el tratamiento de datos de salud con fines de seguros, incluyendo los que se obtengan de análisis genéticos. Se avanza así hacia el diagnóstico, el tratamiento y la terapia “a la carta”, diferente según el paciente o el grupo de pacientes. La genética es la ciencia que estudia estas particularidades y diferencias, de hecho, se le ha llegado a llamar la "ciencia de la desigualdad". Pero, al mismo tiempo, el análisis genético puede ser un instrumento muy útil en otros ámbitos donde interese también la valoración del riesgo, como el de la contratación de seguros. No existen publicaciones que constaten que en estos años se haya generado una situación de discriminación efectiva por razones genéticas en el ámbito de los seguros (se ha afirmado que los supuestos conocidos son anecdóticos)[1] pero los avances en técnicas genéticas y su creciente disponibilidad[2], y de nuevas herramientas para el tratamiento masivo de información, hace que se mantenga abierta la reflexión y que subsista la preocupación[3]. De hecho, en el año 2016 el Consejo de Europa publicó una Recomendación sobre el tratamiento de datos de salud con fines de seguros, incluyendo los que se obtengan de análisis genéticos. [1] William Nowlan, W., “A Rational View of Insurance and Genetic Discrimination”, Science, 2002,Vol. 297, p. 195. [2] En particular, a través de análisis directos al consumidor, como advierte Rothstein, M., “Time to End the Use of Genetic Test Results in Life Insurance Underwriting”, Journal of Law, Medicine & Ethics, 46(3), 2018, p. 795. [3] American Medical Association, Genetic discrimination, 2013, p. 1.
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Law professor Natalie Ram discusses implications of landmark warrant
Journal Article
Lawrence Matthew W, Arias Jalayne J. Alzheimer's disease biomarkers: another tool for FAA pilot screening?. Journal of Law and the Biosciences. 2019;6(1):85-110. Available from:
https://doi.org/10.1093/jlb/lsz011
Research advancements to improve the accuracy of diagnosing Alzheimer's disease (AD) have altered clinicians and researchers’ understanding of the disease process. The discovery of amyloid and tau biomarkers as measures of disease pathology supports early identification of disease risk that precedes symptom onset. As a result, AD is now understood to be an underlying pathology that causes a spectrum of clinical syndromes, beginning with preclinical AD. Future clinical implementation of biomarkers will raise novel employment and professional licensure discrimination risks based on AD biomarker status. This article evaluates the potential consequences of biomarker status for commercial pilots within Federal Aviation Administration pilot licensing procedures. The article argues for a careful implementation of AD biomarker status in licensing procedures to emphasize public safety, integrate accurate scientific knowledge, and limit unjustified and adverse consequences for individual pilots.
Journal Article
Clayton Ellen Wright, Evans Barbara J, Hazel James W, Rothstein Mark A. The law of genetic privacy: applications, implications, and limitations. Journal of Law and the Biosciences. 2019;6(1):1-36. Available from:
https://doi.org/10.1093/jlb/lsz007
Recent advances in technology have significantly improved the accuracy of genetic testing and analysis, and substantially reduced its cost, resulting in a dramatic increase in the amount of genetic information generated, analysed, shared, and stored by diverse individuals and entities. Given the diversity of actors and their interests, coupled with the wide variety of ways genetic data are held, it has been difficult to develop broadly applicable legal principles for genetic privacy. This article examines the current landscape of genetic privacy to identify the roles that the law does or should play, with a focus on federal statutes and regulations, including the Health Insurance Portability and Accountability Act (HIPAA) and the Genetic Information Nondiscrimination Act (GINA). After considering the many contexts in which issues of genetic privacy arise, the article concludes that few, if any, applicable legal doctrines or enactments provide adequate protection or meaningful control to individuals over disclosures that may affect them. The article describes why it may be time to shift attention from attempting to control access to genetic information to considering the more challenging question of how these data can be used and under what conditions, explicitly addressing trade-offs between individual and social goods in numerous applications.
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Legislation to protect Canadians’ genetic information is coming before the Supreme Court of Canada. The top court is hearing the case today after the Quebec Court of Appeal found that part of the Act uses the criminal law powers to outlaw genetic discrimination is ultra vires. But the legislation’s curious history means that the Attorney General of Canada is now joining with Quebec’s to defend the provincial ruling, even though Parliament passed the bill.
Newspaper Article
The Department of Homeland Security said it would begin testing on hundreds of thousands of immigrants in federal detention facilities.
Journal Article
Joly Yann, Dalpe Gratien, Pinkesz Miriam. Is Genetic Discrimination Back on the Radar? A Commentary on the Recent Court of Appeal Reference Decision on the Genetic Non- Discrimination Act (GNDA). Canadian Journal of Bioethics. 2019;2(2):94-96. Available from:
https://doi.org/10.7202/1064941ar
In this commentary, we critically review the Quebec Court of Appeal’s reference decision to the effect that the Genetic Non-Discrimination Act (GNDA) is unconstitutional. In sum, the court held that the federal government exceeded its criminal law power through the GNDA, as the Act did not have a valid criminal law purpose. The decision was met with opposition, as advocacy groups for Canadians suffering from genetic diseases or genetic predispositions viewed the GNDA as a step in the right direction and were hopeful that it would offer protection from genetic discrimination. In closing, we argue that the consequences of the Court of Appeal’s opinion will be less dire than anticipated by some advocacy groups. In fact, we suggest that this decision brings about a unique opportunity for progress, where stakeholders can engage the public and policymakers in a forward- looking debate on the use of genetic information.
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Privacy experts welcome policy on use of ancestry sites
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Genetic testing could help us build targeted and effective training routines for athletes, but the emerging science could also introduce opportunity for discrimination in the sporting world.
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Companies that sell DNA tests have hired lobbyists as Minnesota legislators eye regulating who has access to the results.
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DNA testing service Vitagene Inc. left thousands of client health reports exposed online for years, the kind of incident that privacy advocates have warned about as gene testing has become increasingly popular.
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New rules that took effect on July 1 mean that life insurers will no longer be able to ask applicants for the results of genetic testing they may have had.
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Home DNA testing can be fun. I’ve done it for myself and for my dog.
Journal Article
Dupras Charles, Beck Stephan, Rothstein Mark A, Berner Alison, Saulnier Katie M, Pinkesz Miriam, et al. Potential (mis)use of epigenetic age estimators by private companies and public agencies: human rights law should provide ethical guidance. Environmental Epigenetics. 2019;5(3):dvz018. Available from:
https://doi.org/10.1093/eep/dvz018
Over the past decade, researchers in epigenetics have developed testing methods to predict the chronological and biological age of individuals based on levels of DNA methylation at combinations of CpG sites in specific cell types. These epigenetic age and aging estimators, also referred to as ‘epigenetic clocks’, represent a promising avenue to better understand the biological pathways underlying the development of aging-associated disorders, and imagine biomedical and/or social interventions to prevent, reverse, or alleviate them. Epigenetic clock technologies aimed at testing for epigenetic age of different cell types also provide an opportunity to investigate how environmental stressors, social adversity, and unhealthy lifestyle can contribute to such disorders through epigenetic aging acceleration. In addition to their potential clinical and public health applications, epigenetic age and aging estimators may be used for non-medical purposes, such as insurance and forensic sciences. In this article, we present and discuss a set of potential ethical, legal, and social implications of non-medical uses of epigenetic clocks. We highlight concerns related to actuarial and moral fairness, free and informed consent, data governance and the protection of privacy, equity and non-discrimination principles, identification and surveillance, the moral liability of criminals, as well as scientific validity, test accuracy, and interpretation of test results. We argue that a human rights framework should guide further discussions about these important and timely questions.
Journal Article
Genomic tumor profiling tests (GTPTs) to find molecular targeted drugs for patients with advanced cancer are being introduced into clinical settings, which may result in secondary germline findings. Although small-scale qualitative studies have revealed patients’ attitudes toward GTPTs and preferences on receiving germline findings, no large-scale quantitative research exists that includes family members. We conducted anonymous surveys with 757 cancer patients (CPs), 763 family members (FMs), and 3697 general adults (GAs) in Japan. Awareness of GTPTs was low in all groups, however, both CPs and FMs showed a higher degree of recognition in the benefits of GTPTs. FMs wanted information on germline findings to be shared more than the CPs. Since advanced CPs may have psychological burdens that make it difficult to express their opinions on their therapeutic options and sharing germline findings, GTPTs should be offered with advanced care planning for patients.
Magazine Article
A scene from a play and interview with Ella Road, the author of “The Phlebotomist”
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The insurance industry in Japan is getting ready to create guidelines that would stop genetic discrimination by insurers in the country. They are seeking
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The use of genetic information collected by private companies in criminal investigations raises a number of issues about transparency and privacy.
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Rwanda has proposed the world’s first country-wide DNA database, a project that will involve collecting samples from all of the country’s 12 million citizens in an effort to crack down on crime.
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Deux juristes se penchent sur la récente décision de la Cour d'Appel relativement à la Loi sur la Non-Discrimination Génétique (LNDG).
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The life insurance industry is pushing ahead with the rollout of new rules on genetic testing despite a delay.
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Federal, Ontario governments leading the charge to include genetics as a protected ground from discrimination
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TOKYO -- A suprapartisan group of lawmakers on March 13 approved the draft outline of a bill to promote proper use of patients' gene information in disease treatment and prevention with a brake on genetic discrimination.
Journal Article
Genetic testing offers great benefit for the diagnosis of genetic conditions and to identify and manage risk for conditions such as familial breast cancer. However, potential personal insurance implications exist for some patients who undergo genetic testing in Australia. Currently, insurance companies offering risk-rated products such as life insurance can use genetic test results to discriminate, which may adversely affect applicants' ability to secure a policy. Many comparable countries have banned or restricted life insurers' use of genetic results, while Australia still permits it. However, the industry proposes to introduce a moratorium limiting the use of genetic results for life insurance underwriting in mid-2019.OBJECTIVEThis paper explores the implications of genetic testing for risk-rated insurance for the general practice workforce in Australia.DISCUSSIONAdvancements in technology and decreasing costs have resulted in rapid expansion in genetic/genomic testing, which is set to become part of mainstream healthcare. General practitioners (GPs) in Australia will have an increasingly significant part to play in the expanded use of this testing, and it is therefore important that GPs are aware of these issues.
Journal Article
Fear of genetic discrimination has led individuals worldwide to avoid medically recommended genetic testing and participation in genomics research, causing potential health effects as research and clinical care are stymied. In response, many countries have adopted policies that regulate how insurers, such as life, disability, or critical illness insurers, can underwrite using genetic test results. This article presents a comparison of policies in the United Kingdom, Canada, and Australia, through analysis of interviews with 59 key stakeholders representing insurance, government, advocacy, academia, and genetics. While the ultimate policy of each country is different, the policy motivations and issues raised share commonalities across the countries, particularly around themes of fairness, usefulness of genetic information, and the determination of actuarial fairness.
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La Cour d’appel du Québec a jugé la loi fédérale invalide juste avant Noël.
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Following the Quebec Court of Appeal’s opinion concerning the constitutionality of the Genetic Non-Discrimination Act, Marie-Claude Landry, Chief Commissioner of the Canadian Human Rights Commission, issues the following statement:
Journal Article
Background: Genetic testing offers great benefit for the diagnosis of genetic conditions and to identify and manage risk for conditions such as familial breast cancer. However, potential personal insurance implications exist for some patients who undergo genetic testing in Australia. Currently, insurance companies offering risk-rated products such as life insurance can use genetic test results to discriminate, which may adversely affect applicants' ability to secure a policy. Many comparable countries have banned or restricted life insurers' use of genetic results, while Australia still permits it. However, the industry proposes to introduce a moratorium limiting the use of genetic results for life insurance underwriting in mid-2019.
Objective: This paper explores the implications of genetic testing for risk-rated insurance for the general practice workforce in Australia.
Discussion: Advancements in technology and decreasing costs have resulted in rapid expansion in genetic/genomic testing, which is set to become part of mainstream healthcare. General practitioners (GPs) in Australia will have an increasingly significant part to play in the expanded use of this testing, and it is therefore important that GPs are aware of these issues.
Journal Article
In this article, the author evaluates whether the legal framework for the development of personalized medicine in Denmark can be legitimized as a form of solidarity.The article focuses on the recent amendments to the Health Act, which establishes the National Genome Centre. The article finds that some provisions of the law are not anchored in the patient's right to self-determination, as biological material can in some cases be stored and used for research without informed consent. To evaluate whether this practice can be explained as a form of solidarity, the author makes use of Prainsack and Buyx's description of solidarity, which states that solidarity requires transparency, truthfulness and that patients are protected from negative consequences. Based on this analysis, it is argued that the current law cannot be considered a form of solidarity because patients are not adequately informed that presumed consent applies in the Danish health care system. It is also criticized that children and adults without capacity to consent are included in the presumed consent model. It is therefore recommended that all patients be better informed that biological material may in some cases be stored and used for research and that the rights of children in relation to large-scale genome research be brought into focus.
Journal Article
Journal Article
Nartai Azhar, Shalkharov Yernar Sailaubekovich, International Kazakh-Turkish University after H.A.Yessevi, Bitemirov Kairat Turlybaevich, International Kazakh-Turkish University after H.A.Yessevi. System of Legal Regulation of Operations Related to Genome Maneuvers. Theoretical & Applied Science. 2018;68(12):376-378. Available from:
http://www.t-science.org/arxivDOI/2018/12-68/12-68-57.html
Today, surgery on the human genome is not uncommon. Genetic engineering works quite actively today in the field of elimination of human body deficiencies in the field of oncology, leukology, embryology and other priority areas. Consequently, it is important to designate the correctness of the legal classification, operations carried out on the human genome from the position of legal efficacy. In this context, it will be correct to designate the term “regulation”, which is considered to be correct from the point of view of civil legislation in the complex of existing normative acts in aggregate, which can be designated as a system.
Journal Article
Nartai Azhar, Shalkharov Yernar Sailaubekovich, International Kazakh-Turkish University after H.A.Yessevi, Bitemirov Kairat Turlybaevich, International Kazakh-Turkish University after H.A.Yessevi. The Place of Acts Regarding to Genetic Engineering in The System of Legal Regulation (Legal Analysis). Theoretical & Applied Science. 2018;68(12):373-375. Available from:
http://www.t-science.org/arxivDOI/2018/12-68/12-68-56.html
Being a legal state, the Republic of Kazakhstan is obliged first of all to consider all functioning segments from the position of legal analysis. Genetic engineering is also no exception. Designating the position of Kazakhstani legislation on the concept of human genetic material, it is equally important to designate the degree of maneuverability, the coefficient of elasticity of consideration of the human genome in the system of normative legal acts. Consideration of such in civil law is impossible due to the lack of elaboration of the provisions. Nevertheless, in criminal law there are two distinctions between “person and citizen” and “owner and donor”, which should be considered together in relation to the human genetic material in the context of considering human tissues. The present was taken as a basis because of the lack of regulation of the concept of genetic material in the system of current legislation, giving preference to organs and tissues.
Journal Article
Nartai Azhar, Shalkharov Yernar Sailaubekovich, International Kazakh-Turkish University after H.A.Yessevi, Bitemirov Kairat Turlybaevich, International Kazakh-Turkish University after H.A.Yessevi. The Role of Human Genome Related Legal Study Development. Theoretical & Applied Science. 2018;68(12):290-292. Available from:
http://www.t-science.org/arxivDOI/2018/12-68/12-68-43.html
Abstract: The century of rapidly developing technologies determines the need for a component for society at the moment when it most needs it. So today, undergoing a crisis of shortage of donor organs for transplantation, search for a suitable blood group for transfusion, issues of implantation, removal of a cancerous tumor, purification of blood serum components and other problems push humanity to reach new heights in solving such unsolvable problems. One of these solutions is biotechnology for the study of the human genome. Having successfully reproduced numerous clones of animals, mankind wondered how realistic it is to reproduce a living person for use in accordance with the need to solve global problems. The present has spawned many discussions on the part of theologians, ethics, biologists, medical workers and other segments of the population. The legal position is also among them. Since all decisions taken in a modern state should be regulated and covered in the system of regulatory legal acts, two positions were legally manifested. The first position implies an urgent need to depressurize in detail all the components associated with the study of the genome at the legislative level. The second position implies a number of sanctions related to illegal activities in the field of the study of the genome. This article discusses both positions.
Journal Article
Prince Anya E R. Political economy, stakeholder voices, and saliency: lessons from international policies regulating insurer use of genetic information. Journal of Law and the Biosciences. 2018;5(3):461-494. Available from:
https://doi.org/10.1093/jlb/lsz001
A decade ago, Congress passed the Genetic Information Nondiscrimination Act (GINA), with the goals to address fear of genetic discrimination and prevent adverse health insurance and employment decisions on the basis of one's genetic information. Yet, fear of discrimination remains because other insurers, notably life, long-term care, and disability insurers, are not covered by the law. Therefore, there have been persistent murmurings for a ‘GINA 2.0’ to extend the protections of the original law. Although it is plausible to assume that the insurance industry has the political economy to control future regulation, given the saliency of genetic discrimination, other stakeholders and bureaucrats may have greater influence. This paper explores the history of policy in four countries—the United Kingdom, Sweden, Australia, and Canada. Each country provides examples of continued policy debate and change following an initial period of reliance on insurance industry self-regulation, with change generally occurring over the objection of the insurance industry. This article argues that US insurers, regulators, and stakeholders should negotiate a consensus solution for insurer use of genetic information that balances between social and economic considerations. Without compromise, continued saliency and a weakened political economy of insurers will foster continued entrenched debate on the issue.
Journal Article
Pepper Michael S., Dandara Collet, de Vries Jantina, Dhai Amaboo, Labuschaigne Melodie, Mnyongani Freddy, et al. ASSAf consensus study on the ethical, legal and social implications of genetics and genomics in South Africa. S. Afr. J. Sci. 2018;114(11/12) Available from:
https://www.sajs.co.za/article/view/5822
This study aims to address the ethical, legal and social implications (ELSI) of genetics and genomics work, as it relates to research, health service provision and forensic applications (medical and legal) in South Africa. The study was undertaken by a 13-member panel appointed by the Academy of Science of South Africa (ASSAf). The deliberations in this report are centred on the broad philosophical approach of Ubuntu, a philosophical notion that refers to the essence or quality of being human. The report describes the benefits to be derived from genetic and genomics work, the need for boundaries to be clearly defined and adherence monitored to ensure that benefits are shared by all and that no harm is done. The report is divided into three thematic areas: Building Relationships, Respect for Persons and Good Stewardship. Each section is followed by recommendations which are ethically and legally sound, culturally appropriate, feasible, enforceable and sustainable, given the resources within the country, and balanced against competing national priorities.
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Genetic discrimination involves insurance companies refusing to insure those that have genetic mutations. This also applies to employers, schools, and many other third-parties, who can inflict unjust treatment on people because of genetic tests. The Genetic Non-Discrimination Act became law in Canada on May 4, 2017. However, Quebec’s government challenged the constitutionality of the act, stating it infringes on insurance regulations, which is a provincial jurisdiction. It was referred to Quebec’s Court of Appeal. The verdict on the law’s constitutionality will be known on Dec. 12.
Journal Article
In Australia, the USA and many Asian countries the life insurance industry is self-regulated. Individuals must disclose genetic test results known to them in applications for new or updated policies including cover for critical care, income protection and death. There is limited information regarding how underwriting decisions are made for policies with such disclosures. The Australian Financial Services Council (FSC) provided de-identified data collected on applications with genetic test result disclosure from its life insurance member companies 2010–2013 to enable repetition of an independent examination undertaken of applications 1999-2003: age; gender; genetic condition; testing result; decision-maker; and insurance cover. Data was classified as to test result alone or additional other factors relevant to risk and decision. Where necessary, the FSC facilitated clarification by insurers. 345/548 applications related to adult-onset conditions. The genetic test result solely influenced the decision in 165/345 applications: positive (n?=?23), negative (n?=?139) and pending (n?=?3). Detailed analyses of the decisions in each of these result categories are presented with specific details of 11 test cases. Policies with standard decisions were provided for all negative test results with evidence of reassessment of previous non-standard decisions and 20/23 positive results with recognition of risk reduction strategies. Disclosure of positive results for breast/ovarian cancer, Lynch syndrome and hereditary spastic paraplegia, and three pending results, generated non-standard decisions. The examination demonstrates some progress in addressing concerns in regard to utilisation of genetic test information but the self-regulatory system in Australia only goes some way in meeting internationally recommended best practice.
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Canada's border enforcement agency appears to be using genetic tests and DNA ancestry sites to determine country of origin for would-be deportees
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Le professeur Yann Joly lance une consultation en ligne.
Journal Article
This paper reviews the major legal instruments and self-regulations that bear heavily on the cross-border sharing of genomic data in China. It first maps out three overlapping frameworks on genomic data and analyzes their underpinning policy goals. Subsequent sections examine the regulatory approaches with respect to five aspects of responsible use and sharing of genomic data, namely, consent, privacy, security, compatible processing, and oversight. It argues that substantial centralised control exerted by the state is, and would probably remain, the dominant feature of genomic data governance in China, though concerns of individual protection are gaining momentum. Rather than revolving around a simplistic antinomy between privacy preservation and open science, the regulatory landscape is mainly shaped by the tension between government desires for national security, state competitiveness, and public health benefits.
Journal Article
Over more than two decades, various policies have been adopted worldwide to restrict the use of individual genetic information for non-medical reasons by third parties and prevent ‘genetic discrimination’. In this paper, we bring attention to the growing interest for individual epigenetic information by insurers and forensic scientists. We question whether such interest could lead to ‘epigenetic discrimination’ – the differential adverse treatment or abusive profiling of individuals or groups based on their actual or presumed epigenetic characteristics – and argue that we might already be facing the limitations of recently adopted normative approaches against genetic discrimination. First, we highlight some similarities and differences between genetic and epigenetic modifications, and stress potential challenges to regulating epigenetic discrimination. Second, we argue that most existing normative approaches against genetic discrimination fall short in providing oversight into the field of epigenetics. We conclude with a call for discussion on the issue, and the development of comprehensive and forward-looking preventive strategies against epigenetic discrimination.
Journal Article
Key points: (1) The Genetic Non-Discrimination Act (GNA) makes it a criminal offence for a service provider or anyone entering into a contract with a person to require or compel that person to take, or disclose the results of, a genetic test. (2) The GNA is critical for promoting the health of Canadians and ensuring Canada remains on the cutting edge of genomics research. (3) The Government of Quebec is challenging the constitutionality of the act. (4) Although the act passed into law only last May, it has already had a positive impact; it is therefore imperative that it remains intact for all Canadians.
Journal Article
May 21, 2018, marks the tenth anniversary of the signing into law of the Genetic Information Nondiscrimination Act. The Congressional deliberations for GINA were long and difficult. The original bill was introduced in 1995, and for many years, it did not look as if the bill would ever emerge from committee. Several of its provisions raised concerns for insurers, employers, and other stakeholders. After thirteen years, the controversial provisions were either deleted, revised, or clarified. At this ten-year mark, it is appropriate to take stock of GINA. In light of GINA's glacial legislative history, it is reasonable to start thinking about the necessity, wisdom, and feasibility of amending GINA or enacting new legislation to address unresolved or emerging issues of genetic discrimination and trends in genetics, genomics, precision medicine, and related technologies.
Journal Article
Wauters Annet, Van Hoyweghen Ine. Concerns about Genetic Discrimination after Regulation: A Qualitative Study of the Situation Regarding BRCA and Huntington’s Disease in Belgium. Laws. 2018;7(2):17. Available from:
http://www.mdpi.com/2075-471X/7/2/17
Although there is no unequivocal evidence of genetic discrimination (GD), and despite laws that prohibit it, individuals confronted with genetic diseases still seem to be concerned. The aim of this study was to gain in-depth understanding of experiences and concerns in relation to possible genetic discrimination. This article presents an analysis of semi-structured interviews with 42 individuals who had or were at risk of breast and ovarian cancer (BRCA) or Huntington’s disease (HD) in Belgium. Even after regulation, individuals at risk of BRCA and HD express concerns about possible genetic discrimination. These concerns relate to direct forms of GD, for instance those related to insurance and employment. Individuals were often unclear about and wary of legislation. Importantly, concerns were also expressed as to more subtle and indirect forms of GD, e.g., in social relations, where individuals fear being treated ‘differently’ and unfairly. Our study demonstrates how these concerns emerge at particular moments in life and how levels and forms of concern are influenced by the specific genetic disorder. Worries concerning these more subtle forms of genetic discrimination are more difficult to protect by law. Current legislative efforts do not appear to be effective in alleviating concerns about genetic discrimination. These regulations seem to be unclear, some participants are unsure about their effectiveness and they do not succeed in incorporating all forms of genetic discrimination. Particularly challenging is how to address indirect forms of genetic discrimination.
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Pour l’heure, en France, la loi protège l'intimité génétique de chacun. Mais la Suisse est sur le point de craquer. Et demain, les assurances trieront-elles leurs clients en fonction de leurs gènes?
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La récolte et l'utilisation des données génétiques se trouvent au coeur de la révision de la Loi fédérale sur l’analyse génétique humaine, en débat dès lundi au Conseil national.
Journal Article
During the 1990s, as the researchers working on the Human Genome Project were racing to map and sequence the human genome, many members of the public were concerned that predictive genetic information could be used to discriminate in employment and various forms of insurance, including life, health, disability, and long-term care.1 By the end of the decade, 48 states had enacted laws prohibiting genetic discrimination in health insurance2 and 35 states prohibited genetic discrimination in employment.3 In 2008, Congress enacted the Genetic Information Nondiscrimination Act (GINA),4 which outlawed discrimination based on genetic information in health insurance and employment. There has been little meaningful legislation enacted at the state or federal level to limit the use of genetic information in other types of insurance, including life insurance. Most state laws on genetics and life insurance merely require insurers to obtain informed consent before performing genetic tests5 or prohibit the use of genetic information in underwriting unless there is a sound actuarial justification.
Journal Article
Tiller Jane, Keogh Louise, Wake Samantha, Delatycki Martin, Otlowski Margaret, Lacaze Paul. Genetics, Insurance and Professional Practice: Survey of the Australasian Clinical Genetics Workforce. Frontiers in Public Health. 2018;6 Available from:
https://www.frontiersin.org/article/10.3389/fpubh.2018.00333
In Australia and New Zealand, by contrast with much of the developed world, insurance companies can use genetic test results to refuse cover or increase premiums for mutually-rated insurance products, including life, income protection and disability insurance. Genetics professionals regularly discuss insurance implications with clients and report the issue as a clinical challenge, yet no studies have examined clinical practices or opinions. This study surveyed genetic counsellors and clinical geneticists from Australia and New Zealand to (i) investigate variability in professional practice across the Australasian clinical genetic workforce relating to the insurance implications of genetic testing, and (ii) ascertain views regarding current regulation of the issue. There was considerable variability in training and clinical policies, especially around the communication of insurance implications. Almost half of participants reported receiving no training on the insurance implications of genetic testing, and almost 40% were unsure whether they could adequately advise clients. A number of deficits in professional knowledge and understanding of the issue were identified. Widespread concerns regarding regulation of this area were reported, with < 10% of Australian participants considering current Australian regulations as adequate to protect clients from genetic discrimination. The findings from this study highlight scope for greater education, consistency and professional training on the issue of genetics and insurance in Australasia, and strong agreement about the need for regulatory reform.
Journal Article
Lacaze Paul, Tiller Jane, Ryan Joanne. The Dangers of Direct-to-Consumer Genetic Testing for Alzheimer’s Disease. Bioethical Inquiry. 2017;14(4):585-587. Available from:
https://doi.org/10.1007/s11673-017-9817-6
The overarching issue with this case study is poor regulation and quality control over direct-to-consumer genetic testing, delivered in the absence of any medical oversight.
Journal Article
Dalpe Gratien, Ngueng Feze Ida, Salman Shahad, Joly Yann, Hagan Julie, Lévesque Emmanuelle, et al. Breast Cancer Risk Estimation and Personal Insurance: A Qualitative Study Presenting Perspectives from Canadian Patients and Decision Makers. Frontiers in Genetics. 2017;8 Available from:
http://journal.frontiersin.org/article/10.3389/fgene.2017.00128/full
Genetic stratification approaches in personalized medicine may considerably improve our ability to predict breast cancer risk for women at higher risk of developing breast cancer. Notwithstanding these advantages, concerns have been raised about the use of the genetic information derived in these processes, outside of the research and medical health care settings, by third parties such as insurers. Indeed, insurance applicants are asked to consent to insurers accessing their medical information (implicitly including genetic) to verify or determine their insurability level, or eligibility to certain insurance products. This use of genetic information may result in the differential treatment of individuals based on their genetic information, which could lead to higher premium, exclusionary clauses or even the denial of coverage. This phenomenon has been commonly referred to as “Genetic Discrimination” (GD). In the Canadian context, where federal Bill S-201, An Act to prohibit and prevent genetic discrimination, has recently been enacted but may be subject to constitutional challenges, information about potential risks to insurability may raise issues in the clinical context. We conducted a survey with women in Quebec who have never been diagnosed with breast cancer to document their perspectives. We complemented the research with data from 14 semi-structured interviews with decision-makers in Quebec to discuss institutional issues raised by the use of genetic information by insurers. Our results provide findings on five main issues: (1) the reluctance to undergo genetic screening test due to insurability concerns, (2) insurers' interest in genetic information, (3) the duty to disclose genetic information to insurers, (4) the disclosure of potential impacts on insurability before genetic testing, and (5) the status of genetic information compared to other health data. Overall, both groups of participants (the women surveyed and the decision-makers interviewed) acknowledged having concerns about GD and reported a need for better communication tools discussing insurability risk. Our conclusions regarding concerns about GD and the need for better communication tools in the clinical setting may be transferable to the broader Canadian context.
Journal Article
Genetic discrimination (GD) is one of the most pervasive issues associated with genetic research and its large-scale implementation. An increasing number of countries have adopted public policies to address this issue. Our research presents a worldwide comparative review and typology of these approaches. We conclude with suggestions for public policy development.
Journal Article
Joly Yann, Salman Shahad, Ngueng Feze Ida, Granados Moreno Palmira, Stanton-Jean Michèle, Lacey Jacqueline, et al. DNA Testing for Family Reunification in Canada: Points to Consider. Int. Migration & Integration. 2017;18(2):391-404. Available from:
http://link.springer.com/10.1007/s12134-016-0496-7
Countries have adopted different laws, policies, and practices that allow immigration officers to request in certain cases DNA tests to confirm biological relationships in the context of family reunification. In Canada, Citizenship and Immigration Canada has adopted a policy of suggesting DNA testing only as a last resort in cases where no documentary evidence has been submitted or where the evidence provided is deemed unsatisfactory. However, in practice, there have been concerns on the increasing use of DNA tests in family reunification processes of nationals from certain regions including Africa, Asia, and Latin America. Moreover, the Immigration and Refugee Protection Regulations (IRPR) presents a biological definition of family as a determinant of parenthood in the context of family reunification that is inconsistent with the psychosocial definition used in provincial family laws. Although there are cases that can justify the request for DNA tests, there are also significant social, legal, and ethical issues, including discrimination and unfair practices, raised by this increasing use of genetic information in immigration. This policy brief identifies points to consider for policymakers regarding the use of DNA testing in Canadian family reunification procedures. These include (1) the need to refine the policy of “using DNA testing as a last resort” and its implementation, (2) the need to modify the definition of “dependent child” under the IRPR to reflect the intrinsic reality of psychosocial family ties, and (3) the importance of conducting more research on the use of DNA testing in other immigration contexts.
Journal Article
With rapid scientific and technological advances, a new genetic era is emerging. However, these advances raise ethical and legal issues, particularly genetic discrimination, that may threaten advancing science in the absence of appropriate regulation. There is currently no concrete legislative position in this area at eu level, but rather a patchwork of diverging legislative approaches amongst Member States. Genetic discrimination has been singled out as an area of reform in Europe as evidenced, for example in eu Charter of Fundamental Rights, Article 21.1 prohibiting discrimination based on ‘genetic features.’ The United Nations Convention on the Rights of Persons with Disabilities also informs this debate and may spur legislative action. From a transatlantic perspective, the United States’ federal legislation (Genetic Information Non Discrimination Act) is noteworthy. Considering scientific and technological developments, the rights at stake and the various regulatory benchmarks, this paper explores the regulation of genetic information in the eu .
Journal Article
Joly Yann, Ngueng Feze Ida, Song Lingqiao, Knoppers Bartha Maria. Normative Approaches to Address Genetic Discrimination: Placebo or Panacea?. . 2017; Available from:
https://papers.ssrn.com/abstract=2911199
Genetic discrimination is one of the most pervasive issues associated with genetic research and its large-scale implementation in developed countries. In the past decades, governments of an increasing number of countries have adopted public policies to protect their populations from genetic discrimination. Our research presents a comparative review of laws and policies addressing genetic discrimination worldwide. It provides a concise typology and critical appraisal of existing normative approaches. After analyzing these documents and regrouping them under eight policy approaches, our article concludes by formulating some suggestions for future development public policy development.
Journal Article
The new developments of gene techologies by the mid 2010's made easiest and cheapest the maping of the individual genome and, consequently, facilitate the access to personal data with high potential to predict the future health of an insured. Will then the insurers take profit of this opportunity to use these data for a more detailed underwritting of the insured specially in the field of life insurance and at a time where competition is great among insurers ? Taking into account that Australia and France have been early aware of the risks raised by the use of gene technology for insurance purpose (in the early 1990's at the time of the launching of the Human Genome Program), this study is analysing the way the countries have elaborated their own policy, based on the same principle-non-discrimination- but nevertheless very different in building a regulatory system, the Australian one being based on a cooperative approach and the French one on an interventionist attitude. The questions are then : how each system was efficient in preventing and fighting discrimination and how is today its capacity to react to the new genetic revolution ? This implies to keep a look on the socia-political context and on the nature and function of insurance in society.
Journal Article
Ancestry testing is a home DNA test with many dimensions; in some cases, the implications and outcomes of testing cross over into the health sphere. Common reasons for seeking ancestry testing include determining an estimate of customer's ethnic background, identifying genetic relatives, and securing a raw DNA data file that can be used for other purposes. As the ancestry test marketplace continues to grow, and third-party vendors empower the general public to analyze their own genetic material, the role of the genetic counselor is likely to evolve dramatically. Roles of the genetic counselor may include assisting clients with the interpretation of and adaptation to these results, as well as advising the companies involved in this sector on the ethical, legal, and social issues associated with testing. This paper reviews the history, fundamentals, intended uses, and unintended consequences of ancestry genetic testing. It also discusses the types of information in an ancestry testing result, situations that might involve a clinical genetic counselor, and the benefits, limitations, and functions that ancestry genetic testing can play in a clinical genetics setting.
Journal Article
DNA contains the blueprint of life. Variations in the script determine the great diversity that characterises our planet. As the analysis of large datasets derived from DNA reveals the hidden secrets of normal and abnormal structure and function as well as our ancestry, the movement of DNA between research laboratories is becoming commonplace. DNA is a resource that can be used for the benefit or to the detriment of the individuals and communities from which it is derived. But can DNA be treated as a simple commodity? How do we deal with questions such as sovereignty, discrimination and commercialisation? What underlies the current trends in attempting to regulate the movement of DNA? And how can we achieve a balance between preventing exploitation and promoting innovation? This brief overview attempts to contextualise the current landscape in South Africa with regard to the DNA that is destined to leave our shores.
Report
In recent years, genetic research has led to the creation of screening tests capable of predicting a person’s risk for various diseases, including breast cancer and Alzheimer’s, or an individual’s response to a given drug. In addition, the latest high-throughput sequencing technologies can now be used to sequence the whole genome of a human being. Genetic tests and technologies are at the forefront of a new type of personalized medicine, whose purpose is to treat patients with greater precision based on their genetic, clinical and environmental data. The recent advent of techniques used to transfer mitochondrial DNA and edit the genome suggests that in the not-so distant future, it may be possible to modify the genome of individuals at varying stages of development to protect them from disease. The promises of genetics in health care, however, remain to be demonstrated through further research. Genetic information can also be used outside the medical context. This is the case, for example, with genealogical studies used to demonstrate biological lineage among family members or DNA testing done to prove the identity of a suspect during criminal investigations. The use of genetic information outside the context of medicine or medical research can, therefore, be a valuable asset on condition that it respects the values and fundamental rights of our society. Genetic discrimination occurs when a person is excessively profiled or treated negatively based on genetic characteristics (suspected or proven). As with other forms of discrimination involving gender, ethnicity or disability, genetic discrimination can be a source of exclusion. It can limit a person’s social and professional opportunities. When this is the case, a person’s rights and freedoms may be compromised. One thing is certain, however. Genetic discrimination leads to the psychological distress of those involved. At the moment, no major empirical study evaluating the extent of genetic discrimination in Québec has been conducted. In Canada, too, there is too little data on the subject, which further complicates matters in terms of our understanding of the problem at the provincial level. Moreover, the studies available deal with specific situations, such as life insurance coverage for people at risk of developing Huntington’s disease. No other evidence offers compelling data confirming the existence of widespread genetic discrimination. The fear of being the target of discriminatory practices based on genetics is, however, pervasive in Canada. It stands to reason that this reflects the views of people in Québec as well. The purpose of this Policy Brief is to provide policymakers with recent and contextualized data on genetic discrimination and offer recommendations for follow-up to help them develop a Québec prevention strategy.
Journal Article
In 2013, twenty-two states enacted seventy provisions restricting access to abortion. The legislation restricted access to abortions by instituting more regulations on providers and facilities, by prohibiting abortion prior to viability, by restricting funding available to patients and by requiring patients to wait a mandatory time period before having a procedure. Genetic counselors are trained to provide unbiased, comprehensive information in a non-directive style in order to allow patients to exercise their reproductive freedom. We developed a survey of 37 questions for genetic counselors to gauge the potential impact these provisions will have on their ability to be a patient advocate. A total of 286 individuals completed the survey; however, not all respondents answered all questions. Qualitative questions complemented quantitative survey entries, allowing respondents to input thoughts and examples. Results indicate genetic counselors in all regions share similar professional opinions about the provisions. More genetic counselors in the South and Midwest noticed changes impacting patients since the provisions have been enacted. These regional differences correlate with the location of states that have seem the greatest increase in antiabortion provisions.
Journal Article
Newson Ainsley J., Tiller Jane, Keogh Louise A., Otlowski Margaret, Lacaze Paul. Genetics and Insurance in Australia: Concerns around a Self-Regulated Industry. PHG. 2017;20(4):247-256. Available from:
https://www.karger.com/Article/FullText/481450
Regulating the use of genetic information in insurance is an issue of ongoing international debate. In Australia, providers of life and other mutually rated insurance products can request applicants to disclose all results from any genetic test. Insurers can then use this information to adjust premiums and make policy decisions. The Australian Financial Services Council (FSC; an industry body) developed and maintains the relevant industry standard, which was updated in late 2016. Aims/Objective: To review the 2016 FSC Standard in light of relevant research and determine the legitimacy of the Australian regulatory environment regarding use of genetic information by insurers. Results: We identified five concerns arising from the 2016 FSC Standard: (1) use of results obtained from research; (2) the requirement for an applicant to disclose whether they are “considering” a genetic test; (3) failure to account for genome sequencing and other technology developments; (4) limited evidence regarding adverse selection; and (5) the inappropriateness of industry self-regulation. Conclusion: Industry self-regulation of the use of genetic information by life insurers, combined with a lack of government oversight, is inappropriate and threatens to impede the progress of genomic medicine in Australia. At this critical time, Australia requires closer government oversight of the use of genetic information in insurance.
Journal Article
There is continuing societal debate about whether insurers should be able to collect, access, or use genetic test results when considering applications or setting premium and coverage levels.1 This debate centers around deeply rooted beliefs over the privacy and personal nature of genetic information on the one hand and the financial necessities and economic considerations of the insurance industry on the other. Insurers argue access to applicants’ genetic test results is essential for the industry’s financial security. However, public distrust of insurance companies, coupled with anecdotal evidence of individuals unable to secure insurance, led to calls for barring insurers from considering genetic test results and, in the context of health insurance, the realization of this goal.2 In 2008, Congress passed the Genetic Information Nondiscrimination Act (GINA), which bars covered health insurers and employers from collecting and using genetic information.3 Other insurers, such as life, long-term care, and disability insurers, are exempt from the law.4 Since GINA’s passage, continued suggestions have been raised to expand legislation to these other insurances, but to date regulation has been limited, variable, and confined to the state level.5 It remains an open question whether and how the use of genetic test results by life, long-term care, and disability insurers should be circumscribed.
Journal Article
Under current Australian regulation, life insurance companies can require applicants to disclose all genetic test results, including results from research or direct-to-consumer tests. Life insurers can then use this genetic information in underwriting and policy decisions for mutually rated products, including life, permanent disability, and total income protection insurance. Over the past decade, many countries have implemented moratoria or legislative bans on the use of genetic information by life insurers. The Australian government, by contrast, has not reviewed regulation since 2005 when it failed to ensure implementation of recommendations made by the Australian Law Reform Commission. In that time, the Australian life insurance industry has been left to self-regulate its use of genetic information. As a result, insurance fears in Australia now are leading to deterred uptake of genetic testing by at-risk individuals and deterred participation in medical research, both of which have been documented. As the potential for genomic medicine grows, public trust and engagement are critical for successful implementation. Concerns around life insurance may become a barrier to the development of genomic health care, research, and public health initiatives in Australia, and the issue should be publicly addressed. We argue a moratorium on the use of genetic information by life insurers should be enacted while appropriate longer term policy is determined and implemented.
Journal Article
Emerging ethical, legal, and social implications (ELSI) scholarship in epigenetics has focused largely on hypothetical issues involving institutional racism, discrimination, and eugenics. To avoid an unwarranted backlash against this promising research field, we encourage a more balanced ELSI discussion conveying the full spectrum of issues faced by stakeholders.
Journal Article
Wauters Annet, Van Hoyweghen Ine. Global trends on fears and concerns of genetic discrimination: a systematic literature review. J Hum Genet. 2016;61(4):275-282. Available from:
https://www.nature.com/articles/jhg2015151
Since the 1990s, developments in the field of genetics have led to many questions on the use and possible misuse of genetic information. ‘Genetic discrimination’ has been defined as the differential treatment of asymptomatic individuals or their relatives on the basis of their real or assumed genetic characteristics. Despite the public policy attention around genetic discrimination, there is currently still much confusion surrounding this phenomenon. On the one hand, there is little evidence of the occurrence of genetic discrimination. On the other hand, it appears that people remain concerned about this theme, and this fear influences their health and life choices. This article makes use of a systematic literature review to investigate what is already known about the nature, extent and background of these fears and concerns. The 42 included studies have found considerable levels of concerns about genetic discrimination. Concerns dominate in insurance contexts and within personal interactions. The extent of concerns appears to vary depending on the type of genetic illness. Furthermore, installed laws prohibiting genetic discrimination do not seem to alleviate existing fears. This raises important questions as to the origins of these fears. Based on the findings, recommendations for future research are made. First, research on the background of fears is needed. Second, future research needs to assess more fully all different forms (for example, direct and indirect) of genetic discrimination. Thirdly, it has to be studied whether genetic discrimination is a form of discrimination that is distinguishable from discrimination based on an illness or disability. Finally, a last element that should be addressed in future research is the most recent developments in research on genomics, such as next-generation sequencing or genome-wide association studies.
Journal Article
Next-generation sequencing (NGS) has truly transformed human genetics and is now an integral discovery tool in the field. Whole-exome sequencing (WES) - an NGS application focused on the protein-coding regions of the human genome - has already bridged the bench-to-bedside divide internationally and is offered as a clinical test by several accredited laboratories.[1,2] Clinical WES is not currently offered in South Africa (SA) for a number of reasons, including technological constraints, insufficient storage for the resulting large datasets, ethical considerations and limitations of our understanding of the impact of human genetic variants on health and in terms of clinical utility. The historical under-representation of individuals of black African descent in genomics research further complicates the interpretation of results obtained from WES data in black Africans.
Journal Article
New developments in genetics could affect a variety of real property rights. Mortgage lenders, mortgage insurers, real estate sellers, senior living centers, retirement communities, or other parties in residential real estate transactions begin requiring predictive genetic information as part of the application process. One likely use would be by retirement communities to learn an individual's genetic risk for Alzheimer's disease. The federal Fair Housing Act prohibits discrimination based on disability, but it is not clear that it would apply to genetic risk assessments. Only California law explicitly applies to this situation and there have been no reported cases.
Journal Article
Although medical care delivery by one's personal physician is the paradigmatic American healthcare arrangement, in the workplace setting, many Americans undergo medical evaluations to assess their fitness for duty or degree of impairment. This Article explores the complex and evolving legal status of occupational medical evaluations. Beginning with the legal and ethical frameworks of occupational medical practice, the Article then examines the effects of increasingly detailed legal regulation under the Americans with Disabilities Act and the Genetic Information Nondiscrimination Act on employees, employers, and physicians.
Journal Article
Rothstein Mark A. Innovations of the Americans With Disabilities Act: Confronting Disability Discrimination in Employment. JAMA. 2015;313(22):2221-2222. Available from:
https://doi.org/10.1001/jama.2015.3417
The Americans with Disabilities Act of 1990 (ADA) is the nation's first comprehensive and broadly applicable law prohibiting discrimination in employment on the basis of disability. Adopting key language from the Rehabilitation Act of 1973, an earlier federal law with more limited coverage, as well as other federal and state employment discrimination laws, the ADA introduced a series of statutory innovations to advance the goal of ensuring greater employment opportunities for the millions of Americans with disabilities. This Viewpoint explores 3 notable innovations in the ADA relating to coverage, medical examinations and inquiries, and reasonable accommodation.
Journal Article
Shalkharov Yernar Sailaubekovich, Nakipov Balgabay Isakulovich, International Kazakh Turkish University by name of K.A.Yessevi, Batyrbaev Nurlan Muhtarovich, International Kazakh Turkish University by name of K.A.Yessevi, Urazbaev Kuanyshbek Baimbetovich, et al. Perspective of Theoretical Consideration in the Text of the Article "Cloning of the Person" of the New Criminal Code of the Republic of Kazakhstan from the Position of the International and Foreign Experience of Countries of Western Europe in particular the United Kingdom: Comparative Analysis. Theoretical & Applied Science. 2015;23(03):138-145. Available from:
http://www.t-science.org/arxivDOI/2015/03(23)/03(23)_24.html
Journal Article
Against the backdrop of rapid developments in genetic science and technology, one of the main concerns arising in this area is the potential use of genetic testing to discriminate, especially in the employment and insurance contexts. Employers and insurance companies may use the results of genetic tests to discriminate (primarily for economic advantage, based on perceptions of future health risks or future disabilities. The article explores the scope of the EU to effectively address genetic discrimination and the misuse of genetic information. It first provides a theoretical overview of the choice of regulatory frameworks. It then examines the scope and protection of current non-discrimination laws in the EU and investigates the possibility of an EU level response to address the misuse of genetic information.
Journal Article
Akmadov Shamuhamet Nurmuhamedovich, Batyrbaev Nurlan Muhtarovich, International Kazakh-Turkish University by name of H.A.Yessevy Kazakhstan, Shalkharov Yernar Sailaubekovich, International Kazakh-Turkish University by name of H.A.Yessevi. Kazakhstan. Problems of Consumer Protection Legislation in the Sphere of Medical Education System as a Course to Achieve Goal of Correct Connection Between Doctor and Patient in Kazakhstan, Central Asia (Discripting Approach). Theoretical & Applied Science. 2015;21(01):126-128. Available from:
http://www.t-science.org/arxivDOI/2015/01(21)/01(21)_21.html
In this article there were shown the main features of consumer legal relationship in the sphere of medical education, based on the main principles of developing education system from the point of consumer protection legislation. It is very necessary to improve the situation in medical conflicts during the present situation in Kazakhstan.
Journal Article
Dusipov Erkin Shajaevich, Batyrbaev Nurlan Muhtarovich, International Kazakh-Turkish University by name of H.A.Yessevy Kazakhstan, Uderbaev Nurlybek Nurlanovich, Kazakh Medical University of Continuing Education Kazakhstan, Shalkharov Yernar Sailaubekovich, et al. Applied Aspects of Application of Insurance of Professional Responsibility of Doctor in Medical Conflicts and Affecting Mechanisms on Area of Prosecution in Kazakhstan Republic, Central Asia: Description Approach. Theoretical & Applied Science. 2015;21(01):89-93. Available from:
http://www.t-science.org/arxivDOI/2015/01(21)/01(21)_16.html
In this paper there were shown problems of solving medical conflicts and the integrating ways of developing medical workers protecting system. Authors illustrate present situation base on issue of statistic agency of Kazakhstan Republic about the potential threats from criminal code.
Journal Article
RNA sequencing (RNA-Seq) uses the capabilities of high-throughput sequencing methods to provide insight into the transcriptome of a cell. Compared to previous Sanger sequencing- and microarray-based methods, RNA-Seq provides far higher coverage and greater resolution of the dynamic nature of the transcriptome. Beyond quantifying gene expression, the data generated by RNA-Seq facilitate the discovery of novel transcripts, identification of alternatively spliced genes, and detection of allele-specific expression. Recent advances in the RNA-Seq workflow, from sample preparation to library construction to data analysis, have enabled researchers to further elucidate the functional complexity of the transcription. In addition to polyadenylated messenger RNA (mRNA) transcripts, RNA-Seq can be applied to investigate different populations of RNA, including total RNA, pre-mRNA, and noncoding RNA, such as microRNA and long ncRNA. This article provides an introduction to RNA-Seq methods, including applications, experimental design, and technical challenges.
Journal Article
As research focused on personalized medicine has developed over the past decade, bioethics scholars have contemplated the ethical, legal and social implications of this type of research. In the next decade, there will be a need to broaden the focus of this work as personalized medicine moves into clinical settings. We consider two broad issues that will grow in importance and urgency. First, we analyze the consequences of the significant increase in health information that will be brought about by personalized medicine. Second, we raise concerns about the potential of personalized medicine to exacerbate existing disparities in healthcare.
Journal Article
Genetic discrimination in the context of genetic testing has been identified as a concern for symptomatic and asymptomatic individuals for more than three decades. Genetic counselors are often the health care professionals who discuss risks and benefits of genetic testing with patients, thereby making them most appropriate to address patient concerns about genetics and personal insurance (i.e., life, life as related to mortgage or group insurance, disability, critical illness and travel). A pilot study was conducted to ascertain the current practices of Canadian cancer genetic counselors in regard to their discussions with patients about genetic testing and access to personal insurance. Among the 36 counselors surveyed, 100 % reported discussing the issue of genetic testing and personal insurance with their patients. Several factors influenced the content, depth and length of these discussions including age, cancer status, family members, and patients’ current and future insurance needs. Counselors reported discussing with patients the possible impact of genetic test results on access to personal insurance, possible access and use of patient genetic information by insurance companies, and whom patients should contact if they have additional questions. The most commonly reported inquiries from patients included questions about the possible impact of genetic testing on their ability to obtain insurance, and the insurability of family members. While 28 % of counselors reported having been contacted by an insurer requesting access to patient information, only one counselor was aware of or could recall the outcome of such a request. This pilot study revealed that issues concerning genetics and personal insurance are commonly discussed in Canadian cancer genetic counseling sessions. Counselors furthermore expressed a need for additional educational resources on the topic of genetics and personal insurance for themselves and their patients.
Book
This book explores the different forms and potential uses of genetic testing. Drawing together leading experts in disability law, bioethics, health law and a range of related fields, it highlights the ethical and legal challenges arising as a result of emerging and rapidly advancing genetic science. On examining transatlantic perspectives on the matter, chapters in the book ask whether the US Genetic Information Nondiscrimination Act (GINA) is proving to be an effective tool in addressing the issue of genetic discrimination and alleviating fears of discrimination. The book also reviews what insights may be gained from GINA within employment and health insurance contexts, and asks how the UN Convention on the Rights of Persons with Disabilities (CRPD) may impact similar debates within the European Union. The book focuses particularly on the legislative and policy framework in the European Union, with an emphasis on the gaps in protection and the scope for specific legislative action in this area.
Journal Article
Vives Corrons Joan-Lluis, del Mar Mañú Pereira María, Romeo-Casabona Carlos, Nicolás Pilar, Gulbis Béatrice, Eleftheriou Androulla, et al. Recommendations for Centres of Expertise in Rare Anaemias. The ENERCA White Book. Thalassemia Reports. 2014;4(3):86-90. Available from:
https://www.mdpi.com/2039-4365/4/3/4878
The Community added value of Centres of Expertise (CoE) and European Reference Networks (ERN) is particularly high for rare diseases (RD) due to the rarity of these conditions, which implies both a small number of patients and scarcity of expertise within a single country. Gathering expertise at the European level is therefore, paramount in order to ensure equal access to accurate information, appropriate and timely diagnosis and high quality clinical care and follow up for patients with rare diseases. This applies particularly to rare anaemias due to the high number of different rare diseases that constitute this group. In this context, the European Network for Rare and Congenital Anaemias (ENERCA), co-financed by the European Commission, was created in 2002 with the aim of prevention and management of rare anaemias (RA) and the development and promotion of policies to improve the well-being of European Union citizens. The ENERCA White Book is a position paper, developed as a deliverable of the ENERCA (phase 3) project that intends to contribute to the creation of a ERN in RA (ERN-RA) by preparation of the recommendations and, in particular, the definition of the criteria that CoE, local centres (LC) and their interrelations have to fulfil as healthcare providers. It has been nourished by all the activities that have been performed over the past ten years within the ENERCA framework. The White Book is addressed to authorities in charge of the identifying CoE, as an essential requirement for the official recognition of the ERN, to European and national health authorities, Healthcare centres and health professionals, as well as to all other stakeholders interested in RA. It is also addressed to the patients, as a way to empower their community in this process. One particular characteristic of the White Book is the integration of the three main aspects of a CoE: (a) ethical and legal frameworks to ensure the non-discrimination and non-stigmatisation of rare disease patients across Europe, within their sphere of competencies; (b) clinical and laboratory frameworks for defining technical and quality criteria including scope, general and disease specific elements currently defined as technical and professional standards for the diagnosis, treatment and follow-up of patients with RA; and (c) the expectations patients have of CoE. Conceived as a working tool directed to a broad range of stakeholders, the White book has been designed and structured to be comprehensible even to non-technical and /or non-professional audiences. The reader will find an up-to-date description and epidemiological information on RA as well as the European Union background policies for defining CoE and ERN-RA. A working group was created with experts of different profiles, known as the European Working Group on Rare Anaemias (EGRA). In order to achieve its objectives, the methodology used by EGRA, was characterised by three main principles: Interdisciplinary, European coverage, and evidence-based principles. Work has been developed into four sequential steps: 1. Analysis of the current situation of RA in Europe by healthcare professionals in order to identify the most relevant issues that have to be addressed by a centre in order for it to be recommended as CoE. 2. Preparation of questionnaires to perform surveys on how the relevant issues identified in step 1 can be translated into practical recommendations. 3. Analysis of the questionnaire results by face to face meetings, feedback and consensus evaluation, and 4. Preparation of a report on ENERCA policy recommendations for CoE. This report is presented in a user-friendly format, easy to understand and available through the ENERCA website (www.enerca.org). Several important conclusions can be drawn from the ENERCA White Book, including the importance of laboratories involved in the diagnosis of RA, patient oriented and multidisciplinary care at the CoE, the need for coordination and cooperation within and outside the centre, the provision of information to patients and health professionals and the involvement of public authorities at the national and European levels. Official recognition of this structure and assurance of its long term sustainability will only be achieved if public authorities work hand by hand with both professionals experts in different disciplines and patients. Finally, the ENERCA White book aims to be a practical tool for health authorities of Member States (MS) that are preparing their national directory of formally designated CoE. For this, it is important that MS authorities recognise RA as an important health component to be included within the National Plans or Actions for Rare Diseases.
Journal Article
The passage of the Genetic Information Non Discrimination Act (GINA) was hailed as a pivotal achievement that was expected to calm the fears of both patients and research participants about the potential misuse of genetic information. However, 6 years later, patient and provider awareness of legal protections at both the federal and state level remains discouragingly low, thereby, limiting their potential effectiveness. The increasing demand for genetic testing will expand the number of individuals and families who could benefit from obtaining accurate information about the privacy and anti-discriminatory protections that GINA and other laws extend. In this paper we describe legal protections that are applicable to individuals seeking genetic counseling, review the literature on patient and provider fears of genetic discrimination and examine their awareness and understandings of existing laws, and summarize how genetic counselors currently discuss genetic discrimination. We then present three genetic counseling cases to illustrate issues of genetic discrimination and provide relevant information on applicable legal protections. Genetic counselors have an unprecedented opportunity, as well as the professional responsibility, to disseminate accurate knowledge about existing legal protections to their patients. They can strengthen their effectiveness in this role by achieving a greater knowledge of current protections including being able to identify specific steps that can help protect genetic information.
Book Section
This book explores the different forms and potential uses of genetic testing. Drawing together leading experts in disability law, bioethics, health law and a range of related fields, it highlights the ethical and legal challenges arising as a result of emerging and rapidly advancing genetic science. On examining transatlantic perspectives on the matter, chapters in the book ask whether the US Genetic Information Nondiscrimination Act (GINA) is proving to be an effective tool in addressing the issue of genetic discrimination and alleviating fears of discrimination. The book also reviews what insights may be gained from GINA within employment and health insurance contexts, and asks how the UN Convention on the Rights of Persons with Disabilities (CRPD) may impact similar debates within the European Union. The book focuses particularly on the legislative and policy framework in the European Union, with an emphasis on the gaps in protection and the scope for specific legislative action in this area.
Journal Article
Whole genome sequencing makes risk assessment for common diseases a realistic scenario and has led to renewed interest in the use of genetic information for life insurance underwriting. Despite the debate there is little empirical evidence. There is currently no Canadian legislation that explicitly prohibits access to genetic data for the purposes of underwriting by life insurers, although several recent bills have been introduced for this purpose. In this paper we review the arguments, the evidence and the state of Canadian legislation regarding genetic discrimination and life insurance underwriting. Addressing concerns about the potential for genetic discrimination is not just a question of academic or legal interest. If the public and patients are reticent about who might be able to access genetic information, then they may forego the opportunity of screening or testing and the associated health benefits.
Journal Article
Concerns about genetic discrimination (GD) have been reported since the 1980s. The potential chilling effects of GD both in the clinical and research settings have prompted the adoption of a myriad of laws and moratoria on access to genetic data in Europe and the United States. Recent studies in Canada, Australia and Germany concerning patients and family members at-risk for Huntington’s disease have raised concerns about GD and life insurance. However, broader empirical evidence on the occurrence of GD (ex. involving complex genetic disorders in the context of personalized medicine) remains scarce. This study identifies the information that Canadian life insurers request in their primary proposal forms. 21 forms from different insurers, available online, were assessed to determine 1) whether insurers are explicitly or specifically requesting genetic information from applicants, 2) whether insurers are using open-ended questions in a way that may compel the broad disclosure of personal information, and 3) what type of authorization is requested from applicants to enable insurers to verify the accuracy and completeness of the information submitted on the form. Our findings show that Canadian life insurers do not explicitly request that applicants disclose their genetic test results on insurance questionnaires. However, their use of broad terminology and open questions, provide them access to a wealth of medical information (including genetic test results) in addition to family history of diseases. Both the breadth of information currently being collected through their proposal forms and the lack of standardization across insurance groups raise concerns about the equity, transparency and overall coherence of the process. Although the findings have to be interpreted in the context of the inherent limitations of this type of study, they carry important consequences for the translation of personalized medicine which requires and generates a wealth of genomic information for patients.
Journal Article
Joly Yann, Burton Hilary, Knoppers Bartha Maria, Feze Ida Ngueng, Dent Tom, Pashayan Nora, et al. Life insurance: genomic stratification and risk classification. Eur J Hum Genet. 2014;22(5):575-579. Available from:
http://www.nature.com/articles/ejhg2013228
With the development and increasing accessibility of new genomic tools such as next-generation sequencing, genome-wide association studies, and genomic stratification models, the debate on genetic discrimination in the context of life insurance became even more complex, requiring a review of current practices and the exploration of new scenarios. In this perspective, a multidisciplinary group of international experts representing different interests revisited the genetics and life insurance debate during a 2-day symposium ‘Life insurance: breast cancer research and genetic risk prediction seminar' held in Quebec City, Canada on 24 and 25 September 2012. Having reviewed the current legal, social, and ethical issues on the use of genomic information in the context of life insurance, the Expert Group identified four main questions: (1) Have recent developments in genomics and related sciences changed the contours of the genetics and life insurance debate? (2) Are genomic results obtained in a research context relevant for life insurance underwriting? (3) Should predictive risk assessment and risk stratification models based on genomic data also be used for life insurance underwriting? (4) What positive actions could stakeholders in the debate take to alleviate concerns over the use of genomic information by life insurance underwriters? This paper presents a summary of the discussions and the specific action items recommended by the Expert Group.
Journal Article
Rapid developments in genetic testing have given rise to fundamental ethical, legal, and social questions that need to be dealt with in society. Results of genetic tests may be of interest to third parties such as private insurance companies, leading to fears of genetic discrimination. In Germany, the Government adopted the Genetic Diagnosis Act (Gendiagnostikgesetz, GenDG) in 2009 to protect people from, inter alia, genetic discrimination in obtaining life or health insurance. Given the sensitivity of the topic, this legislation was continually revised between 2001 and 2009. In this article, we reconstruct the process of formulating the GenDG with regard to genetics and insurance. The article begins with the parliamentary Enquete Commission in 2000 to develop a strategy and recommendations for the governance of genetic diagnostics, and analyzes how these recommendations were applied during the legislative process. We demonstrate that the legislative process of GenDG was largely determined by conventional methods of governance, rather than Streitkultur called for by the Enquete Commission in 2002. We conclude that though Streitkultur was defined as a mechanism to develop a robust approach to the governance of genetic diagnostics, it failed to influence a crucial element in genetic testing and insurance; namely, to fully protect insurees from genetic discrimination.
Journal Article
Since the late 1980s, genetic discrimination has remained one of the major concerns associated with genetic research and clinical genetics. Europe has adopted a plethora of laws and policies, both at the regional and national levels, to prevent insurers from having access to genetic information for underwriting. Legislators from the United States and the United Kingdom have also felt compelled to adopt protective measures specifically addressing genetics and insurance. But does the available evidence really confirm the popular apprehension about genetic discrimination and the subsequent genetic exceptionalism?
Journal Article
The first of three commentaries on “A Defense of Genetic Discrimination,” from the July-August 2013 issue.
Journal Article
Hazin Ribhi, Brothers Kyle B., Malin Bradley A., Koenig Barbara A., Sanderson Saskia C., Rothstein Mark A., et al. Ethical, legal, and social implications of incorporating genomic information into electronic health records. Genet Med. 2013;15(10):810-816. Available from:
https://www.nature.com/articles/gim2013117
The inclusion of genomic data in the electronic health record raises important ethical, legal, and social issues. In this article, we highlight these challenges and discuss potential solutions. We provide a brief background on the current state of electronic health records in the context of genomic medicine, discuss the importance of equitable access to genome-enabled electronic health records, and consider the potential use of electronic health records for improving genomic literacy in patients and providers. We highlight the importance of privacy, access, and security, and of determining which genomic information is included in the electronic health record. Finally, we discuss the challenges of reporting incidental findings, storing and reinterpreting genomic data, and nondocumentation and duty to warn family members at potential genetic risk.
Journal Article
Currently, there is debate abou
