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Yanes Tatiane, Tiller Jane, Haining Casey, Wallingford Courtney, Otlowski Margaret, Keogh Louise, et al. Future implications of polygenic risk scores for life insurance underwriting.. npj Genomic Medicine. 2024;9
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Genetic testing's increased availability has raised concerns about “genetic discrimination” (GD), where individuals may face unfair treatment, particularly when purchasing personal insurance, because of their genetic characteristics. In 2017, Canada passed the Genetic Non-Discrimination Act (GNDA) to prevent GD. This manuscript reviews post-GNDA life insurance application forms and compares them with pre-2014 application forms to assess the impact of the GNDA on insurance practices in Canada. Based on our comparative assessment, we found that the GNDA has had a modest impact on the practice of life insurers in Canada. Our study also confirms that questions about family history of disease and broadly formulated inquiries are still used on life insurance application forms. Both can, in the absence of clear instructions, lead applicants to disclose protected genetic information.
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Macdonald Angus S. Genetic testing and actuarial science. Annuals of Actuarial Science. 2024;1(4)
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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
Article de revue
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.
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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.
Article de revue
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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Article de revue
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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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.
Article de revue
Dalpé Gratien, Huerne Katherine, Dupras Charles, Cheung Katherine, Winkler Eva, Alex Karla, et al. Defusing the legal and ethical minefield of epigenetic applications in the military, defense, and security context. Journal of Law & Bioethics. 2023;
Article de revue
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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Article de revue
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.
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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
Article de revue
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.
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Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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
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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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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 …
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Chapitre de livre
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.)
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Chapitre de livre
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
Article de revue
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.
Chapitre de livre
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
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Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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 .
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Rapport
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Livre
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.
Article de revue
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.
Article de revue
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.
Chapitre de livre
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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.
Article de revue
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?
Article de revue
The first of three commentaries on “A Defense of Genetic Discrimination,” from the July-August 2013 issue.
Article de revue
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.
Article de revue
Currently, there is debate about life insurance companies' use of genetic information for assessing applicants. In his early 20s, James (pseudonym) was denied full life insurance cover because he revealed that he had discussed genetic testing with a genetic counsellor. He was later tested and found to carry a mutation in the MSH6 gene; after disclosing this, he was denied cover for cancer by two other life insurance companies. Unsatisfied with the insurance companies' risk assessments, and based on his understanding that regular colonoscopy significantly reduced his risk of cancer, James made a complaint to the Australian Human Rights Commission. After informing the third insurance company that he had done so, he was offered full coverage, which suggests that the company did not have actuarial data to justify its decision. This case provides evidence of the high level of initiative and proactivity required for a consumer to achieve a fair result. Few Australians would be in a position to pursue the level of research and advocacy undertaken by James (a professional with scientific training). We call on a collaborative approach between industry, government and researchers to address the issues that James's case raises about genetic testing and life insurance.
Article de revue
Caulfield Timothy, Chandrasekharan Subhashini, Joly Yann, Cook-Deegan Robert. Harm, hype and evidence: ELSI research and policy guidance. Genome Medicine. 2013;5(3):21. Available from:
https://doi.org/10.1186/gm425
There has been much investment in research on the ethical, legal and social issues (ELSI) associated with genetic and genomic research. This research should inform the development of the relevant policy. So far, much of the relevant policy - such as in the areas of patents, genetic testing and genetic discrimination - seems to be informed more by speculation of harm and anecdote than by available evidence. Although a quest for evidence cannot always be allowed to delay policy choice, it seems axiomatic to us that policy options are improved by the incorporation of evidence.
Article de revue
McClellan Kelly A, Avard Denise, Simard Jacques, Knoppers Bartha M. Personalized medicine and access to health care: potential for inequitable access?. Eur J Hum Genet. 2013;21(2):143-147. Available from:
http://www.nature.com/articles/ejhg2012149
Personalized medicine promises that an individual's genetic information will be increasingly used to prioritize access to health care. Use of genetic information to inform medical decision making, however, raises questions as to whether such use could be inequitable. Using breast cancer genetic risk prediction models as an example, on the surface clinical use of genetic information is consistent with the tools provided by evidence-based medicine, representing a means to equitably distribute limited health-care resources. However, at present, given limitations inherent to the tools themselves, and the mechanisms surrounding their implementation, it becomes clear that reliance on an individual's genetic information as part of medical decision making could serve as a vehicle through which disparities are perpetuated under public and private health-care delivery models. The potential for inequities arising from using genetic information to determine access to health care has been rarely discussed. Yet, it raises legal and ethical questions distinct from those raised surrounding genetic discrimination in employment or access to private insurance. Given the increasing role personalized medicine is forecast to play in the provision of health care, addressing a broader view of what constitutes genetic discrimination, one that occurs along a continuum and includes inequitable access, will be needed during the implementation of new applications based on individual genetic profiles. Only by anticipating and addressing the potential for inequitable access to health care occurring from using genetic information will we move closer to realizing the goal of personalized medicine: to improve the health of individuals.
Article de revue
There has been a recent increase in genetic rights legislation as states have begun to grapple with the question of what rights individuals have to their genetic information. Most states have enacted legislation regulating third party use of genetic information; however, the majority of these statutes mirror the federal Genetic Information Nondiscrimination Act in that they only address health insurance companies and employers. Fifteen states have passed broader legislation that endows individuals with more comprehensive control over their genetic information. Of these states, five provide individuals with a property interest in their genetic data and ten grant a privacy interest. This article argues that the laws are so broadly written that they may become unworkable in practice and therefore will fail to adequately protect individuals and their genetic interests. State legislatures would benefit from a narrowly-tailored model law that addresses individuals’ concerns. Additionally, states should create regulations for areas such as newborn screening, paternity testing, and law enforcement biobanks to ensure full protection for individuals in all situations.
Livre
Privacy is an unwieldy concept that has eluded an essentialised definition despite its centrality and importance in the body of bioethics. The compilation presented in this volume represents continuing discussions on the theme of privacy in the context of genetic information. It is intended to present a wide range of expert opinion in which the notion of privacy is examined from many perspectives, in different contexts and imperatives, and in different societies, with the hope of advancing an understanding of privacy through the examination and critique of some of its evolving component concepts such as notions of what constitute the personal, the context of privacy, the significance and impact of the relational interests of others who may share the same genetic inheritance, and mechanisms for the protection of privacy (as well as of their limitations), among others. More specifically, the discussions in this volume encourages us to think broadly about privacy, as encompassing values that are entailed in the sociality of context and of relations, and also as freedom from illegitimate and excessive surveillance. A long-standing question that continues to challenge us is whether genetic information should be regarded as exceptional, as it is often perceived. A conclusion that could be derived from this volume is that while genetic information may be significant, it is not exceptionally so. The work presented in this volume underlines the continuing and growing relevance of notions of privacy to genomic science, and the need to take ownership of a genetic privacy for the future through broad, rigorous and open discussion.Contributors: Alastair V Campbell, Benjamin Capps, Jacqueline JL Chin, Oi Lian Kon, Kenji Matsui, Thomas H Murray, Nazirudin Mohd Nasir, Dianne Nicol, Anh Tuan Nuyen, Onora O'Neill, Margaret Otlowski, Yvette van der Eijk, Chunshui Wang, Ross S White.
Article de revue
Advances in genomics and postgenomics have renewed interest in the impact of genomic health information on private life insurance across Europe. These developments reopen the issue of how genes – apart from being the object of discrimination (exclusion) – also operate as generators of solidarity (inclusion). This article traces several developments in regulating genetics and life insurance and its social implications in the European context. At first, genes were viewed as a source of differentiation, which led to fears of ‘genetic discrimination’ in life insurance. In response, genetic nondiscrimination regulations were enacted across Europe. Current debates on the use of genomic health information in life insurance have actually opened up possibilities for a form of genomic solidarity between ‘all of us’. The introduction of genes and genomes appears to turn private life insurance practices of actuarial risk discrimination increasingly into ‘discriminatory’ practices by challenging the larger fundamental ‘right to underwrite’.
Article de revue
Geelen Els, Horstman Klasien, Marcelis Carlo LM, Doevendans Pieter A, Van Hoyweghen Ine. Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts. Eur J Hum Genet. 2012;20(10):1018-1023. Available from:
http://www.nature.com/articles/ejhg201253
Since the 1990s, many countries in Europe and the United States have enacted genetic non-discrimination legislation to prevent people from deferring genetic tests for fear that insurers or employers would discriminate against them based on that information. Although evidence for genetic discrimination exists, little is known about the origins and backgrounds of fears of discrimination and how it affects decisions for uptake of genetic testing. The aim of this article is to gain a better understanding of these fears and its possible impact on the uptake of testing by studying the case of hypertrophic cardiomyopathy (HCM). In a qualitative study, we followed six Dutch extended families involved in genetic testing for HCM for three-and-a-half years. Semi-structured interviews were conducted with 57 members of these families. Based on the narratives of the families, we suggest that fears of discrimination have to be situated in the broader social and life-course context of family and kin. We describe the processes in which families developed meaningful interpretations of genetic discrimination and how these interpretations affected family members’ decisions to undergo genetic testing. Our findings show that fears of genetic discrimination do not so much stem from the opportunity of genetic testing but much more from earlier experiences of discrimination of diseased family members. These results help identify the possible limitations of genetic non-discrimination regulations and provide direction to clinicians supporting their clients as they confront issues of genetic testing and genetic discrimination.
Article de revue
Bombard Yvonne, Palin JoAnne, Friedman Jan M., Veenstra Gerry, Creighton Susan, Bottorff Joan L., et al. Beyond the patient: The broader impact of genetic discrimination among individuals at risk of Huntington disease. Am. J. Med. Genet.. 2012;159B(2):217-226. Available from:
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.b.32016
We aimed to address gaps in current understanding of the scope and impact of discrimination, by examining a cohort of individuals at-risk for Huntington disease (HD), to describe the prevalence of concern for oneself and one's family in multiple domains; strategies used to mitigate discrimination; and the extent to which concerns relate to experiences. We conducted a cross-sectional survey of 293 individuals at-risk for HD (80% response rate); 167 respondents were genetically tested and 66 were not. Fear of discrimination was widespread (86%), particularly in the insurance, family and social settings. Approximately half of concerned individuals experienced discrimination (40-62%, depending on genetic status). Concern was associated with "keeping quiet" about one's risk of HD or "taking action to avoid" discrimination. Importantly, concern was highly distressing for some respondents (21% for oneself; 32% for relatives). Overall, concerned respondents with high education levels, who discovered their family history at a younger age, and those who were mutation-positive were more likely to report experiences of discrimination than others who were concerned. Concerns were rarely attributed to genetic test results alone. Concern about genetic discrimination is frequent among individuals at-risk of HD and spans many settings. It influences behavioral patterns and can result in high levels of self-rated distress, highlighting the need for practice and policy interventions.
Article de revue
The Genetic Information Nondiscrimination Act of 2008 (GINA) was passed to encourage patients to seek genetic testing that could improve health outcomes and provide opportunities for preventive measures. GINA protects individuals from discrimination based upon genetic information, but not upon manifested diseases and conditions. Because the manifestation of a disease establishes a threshold of protection for individuals under GINA, the definition of manifestation is crucial to understanding the scope of the bill. This paper examines the range of possible legal definitions of disease manifestation and explores the historical struggle that courts have faced when trying to apply these different definitions. Specifically, the paper examines three frameworks that courts have used in the past to interpret the manifestation of a disease; "manifestation as apparent symptoms,""manifestation as patient action," and "manifestation as physician action." We argue that the "manifestation as physician action" is the best framework to utilize in this law generally, but that the definition of manifestation should be read in the light most favorable to a plaintiff in order to achieve the underlying goals of GINA.
Article de revue
Genetic discrimination (GD) is a complex, multifaceted ethical, psychosocial, and legal phenomenon. It is defined as the differential treatment of asymptomatic individuals or their relatives on the basis of their real or assumed genetic characteristics. This article presents an overview of GD within the contemporary international context. It describes the concept of GD and its contextual features, reviews research evidence regarding people's experiences of GD and the impact of GD within a range of domains, and provides an overview of legal and policy responses to GD that have emerged globally. We argue that GD is a significant and internationally established phenomenon that requires multilevel responses to ensure social justice and equitable outcomes for all citizens. Future research should monitor GD and its impacts within the community as well as institutions and should evaluate the effectiveness of legislative, policy, community education, and systemic responses.
Article de revue
Bombard Yvonne, Palin JoAnne, Friedman Jan M., Veenstra Gerry, Creighton Susan, Paulsen Jane S., et al. Factors associated with experiences of genetic discrimination among individuals at risk for huntington disease. Am. J. Med. Genet.. 2011;156(1):19-27. Available from:
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.b.31130
The purpose of this study was to identify factors that are associated with experiencing genetic discrimination (GD) among individuals at risk for Huntington disease (HD). Multivariable logistic regression analysis was used to examine factors associated with experiencing GD in data from a cross-sectional, self-report survey of 293 individuals at risk for HD. The study sample comprised 167 genetically tested respondents, and 66 who were not tested (80% response rate). Overall, individuals who learn they are at risk for HD at a younger age (OR = 3.1; 95% CI: 1.5-6.2; P = 0.002), are mutation-positive (OR = 2.8; 95% CI: 1.4-6.0; P = 0.006), or are highly educated (OR = 2.7; 95% CI: 1.4-5.1; P = 0.002) are more likely to experience GD, particularly in insurance, family, and social settings. Further, younger age was associated with discrimination in insurance (OR = 0.97; 95% CI: 0.94-1.00; P = 0.038). This study provides evidence that some people who are at risk for HD were more likely to experience GD than others. Individuals who learned they are at risk for HD at a younger age and those who are mutation-positive were more likely to experience GD, particularly in insurance, family, and social settings. Younger individuals were more likely to experience discrimination in the insurance setting. Overall, highly educated individuals were also more likely to report discrimination. These results provide direction for clinical and family discussions, counseling practice, and policy aimed at mitigating experiences of GD.
Article de revue
In an era of personalized medicine rife with population databases and international consortia, genetic discrimination is once again moving to the forefront of the genetics policy debate. In North America and Europe, many countries have taken a political stance on the use of predictive genetic information by insurers. Asia is also becoming more conscious of the challenge raised by genetic discrimination. In this paper, we present data on the different policy options adopted to resolve the genetic and insurance dilemma in 47 different countries located in four world regions. Approaches varied according to legal traditions, the role insurance plays in each state, and the interplay between private and public health care systems. We conclude that a truly informed international debate on genetic discrimination in insurance should properly account for the limits of genetic predictive information and the social value of health and life insurance as perceived by the public.
Article de revue
This article introduces thinking from science and technology studies (STS) and in particular the work of Callon to study the topic of genetic testing and private insurance markets. To explore the fruitfulness of this STS approach, I will reconstruct the conventional framing of genetics and insurance as a way of understanding the underlying mechanisms that have led to the solutions of enacting Genetic Non-Discrimination Acts (GNDAs) in private insurance markets. I argue how this conventional framing has been underpinned by a shared paradigm of genetic exceptionalism and I indicate the role of genes as operators of solidarity in aligning a hybrid coalition of concerned groups and people, captured by the trope of genetic discrimination. Using this STS approach, I will point to the unanticipated effects of GNDAs in insurance markets, in the sense that new issues may arise – for example new struggles for solidarity – issues that cannot be identified by the conventional framing of genetics and insurance. This may pave the way for new configurations of solidarity in insurance in the molecular age. I suggest how genes, instead of simply being an object of discrimination, can be important operators of solidarity. Sensibility to the co-shaping of genes and the social, and the new identities, groups and biosocial relations involved in the manufacture of biosciences, law and insurance classifications is essential for better understanding of the politics of insurance markets, for the role of genes in reconfiguring solidarity in insurance markets and for informed governance. This article should be seen as programmatic, fleshing out important contemporary issues in the relationship between genetic technologies, insurance markets and politics that really need much more detailed analyses and discussion.
Article de revue
Advances in genetic science and technology have resulted in an increasing number of genetic tests capable of identifying variations in genes associated with diseases and disorders. While this capacity brings tremendous potential for promoting health and informed decision-making, it also has attendant dangers. In particular, there are concerns that predictive genetic test information may be used by third parties to discriminate against individuals. Alleged accounts of such discrimination have been documented in Australia and overseas jurisdictions and have been the subject of various government initiated inquiries. The focus of this paper is the employment component of a major national study funded by the Australian Research Council called the "Genetic Discrimination Project.".
Article de revue
Erwin Cheryl, Williams Janet K., Juhl Andrew R., Mengeling Michelle, Mills James A., Bombard Yvonne, et al. Perception, experience, and response to genetic discrimination in Huntington disease: The international RESPOND-HD study. Am. J. Med. Genet.. 2010;9999B:n/a-n/a. Available from:
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.b.31079
Genetic discrimination-defined as the denial of rights, privileges, or opportunities or other adverse treatment based solely on genetic information (including family history)-is an important concern to patients, healthcare professionals, lawmakers, and family members at risk for carrying a deleterious gene. Data from the United States, Canada, and Australia were collected from 433 individuals at risk for Huntington disease (HD) who have tested either positive or negative for the gene that causes HD and family members of affected individuals who have a 50% risk for developing the disorder but remain untested. Across all three countries, a total of 46.2% of respondents report genetic discrimination or stigma based on either their family history of HD or genetic testing for the HD gene mutation. We report on the overall incidence of discrimination and stigma in the domains of insurance (25.9%), employment (6.5%), relationships (32.9%), and other transactions (4.6%) in the United States, Canada, and Australia combined. The incidence of self-reported discrimination is less than the overall worry about the risk of discrimination, which is more prevalent in each domain. Despite a relatively low rate of perceived genetic discrimination in the areas of health insurance and employment, compared to the perception of discrimination and stigma in personal relationships, the cumulative burden of genetic discrimination across all domains of experience represents a challenge to those at risk for HD. The effect of this cumulative burden on daily life decisions remains unknown.
Article de revue
Williams Janet K., Erwin Cheryl, Juhl Andrew R., Mengeling Michelle, Bombard Yvonne, Hayden Michael R., et al. In their own words: Reports of stigma and genetic discrimination by people at risk for Huntington disease in the International RESPOND-HD study. Am. J. Med. Genet.. 2010;9999B:n/a-n/a. Available from:
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.b.31080
Genetic discrimination may be experienced in the day-to-day lives of people at risk for Huntington disease (HD), encompassing occurrences in the workplace, when seeking insurance, within social relationships, and during other daily encounters. At-risk individuals who have tested either positive or negative for the genetic expansion that causes HD, as well as at-risk persons with a 50% chance for developing the disorder but have not had DNA testing completed the International RESPOND-HD (I-RESPOND-HD) survey. One of the study's purposes was to examine perceptions of genetic stigmatization and discrimination. A total of 412 out of 433 participants provided narrative comments, and 191 provided related codable narrative data. The core theme, Information Control, refers to organizational policies and interpersonal actions. This theme was found in narrative comments describing genetic discrimination perceptions across employment, insurance, social, and other situations. These reports were elaborated with five themes: What They Encountered, What They Felt, What Others Did, What They Did, and What Happened. Although many perceptions were coded as hurtful, this was not true in all instances. Findings document that reports of genetic discrimination are highly individual, and both policy as well as interpersonal factors contribute to the outcome of potentially discriminating events.
Article de revue
It is hard to be critical of the Genetic Information Non-Discrimination Act of 2008 (GINA). After all, it is the first federal law enacted to prohibit genetic discrimination, and passing it took 13 years of work by people whose goals I share. In analyzing the law, however, it is apparent that GINA fails to resolve or even address many of the basic concerns that drove the legislative effort. It is also clear why, despite 13 years of wrangling on Capitol Hill the final version of GINA was passed unanimously in the Senate and received only one negative vote in the Houses of Representatives - and that from inveterate naysayer, Representative Ron Paul.
Article de revue
New advances in epigenetics research are being reported at an accelerating rate. Intriguing research findings, primarily from animal studies, show that epigenetic changes tend to occur at a much higher frequency than mutations in DNA sequence, that the susceptibility to epigenetic changes is greater at earlier stages of development, and that epigenetic changes are often reversible1,2. Importantly, a growing body of data from animal and human studies suggests that alterations in gene expression that are due to epigenetic processes, such as DNA methylation, can be inherited and affect future generations.
Article de revue
Barlow-Stewart Kristine, Taylor Sandra D, Treloar Susan A, Stranger Mark, Otlowski Margaret. Verification of consumers' experiences and perceptions of genetic discrimination and its impact on utilization of genetic testing.. Genetics in medicine : official journal of the American College of Medical Genetics. 2009;11(3):193-201. Available from:
https://www.nature.com/articles/gim200928
Purpose: To undertake a systematic process of verification of consumer accounts of alleged genetic discrimination.METHODSVerification of incidents reported in life insurance and other contexts that met the criteria of genetic discrimination, and the impact of fear of such treatment, was determined, with consent, through interview, document analysis and where appropriate, direct contact with the third party involved. The process comprised obtaining evidence that the alleged incident was accurately reported and determining whether the decision or action seemed to be justifiable and/or ethical.RESULTSReported incidents of genetic discrimination were verified in life insurance access, underwriting and coercion (9), applications for worker's compensation (1) and early release from prison (1) and in two cases of fear of discrimination impacting on access to genetic testing. Relevant conditions were inherited cancer susceptibility (8), Huntington disease (3), hereditary hemochromatosis (1), and polycystic kidney disease (1). In two cases, the reversal of an adverse underwriting decision to standard rate after intervention with insurers by genetics health professionals was verified. The mismatch between consumer and third party accounts in three life insurance incidents involved miscommunication or lack of information provision by financial advisers.CONCLUSIONThese first cases of verified genetic discrimination make it essential for policies and guidelines to be developed and implemented to ensure appropriate use of genetic test results in insurance underwriting, to promote education and training in the financial industry, and to provide support for consumers and health professionals undertaking challenges of adverse decisions.
Article de revue
Epigenetics is one of the most scientifically important, and legally and ethically significant, cutting-edge subjects of scientific discovery. Epigenetics link environmental and genetic influences on the traits and characteristics of an individual, and new discoveries reveal that a large range of environmental, dietary, behavioral, and medical experiences can significantly affect the future development and health of an individual and their offspring. This article describes and analyzes the ethical and legal implications of these new scientific findings.
Article de revue
In spite of recent legislation, tougher laws are needed to prevent insurers and employers from discriminating on the basis of genetic tests.
Article de revue
In this issue, the article by Lowstuter et al. (page 691) is especially important in light of the recently enacted federal law prohibiting genetic discrimination in health insurance and employment. The subject of genetic discrimination has beguiled clinical and research geneticists, genetic counselors, and patients for many years, but the new law is unlikely to resolve the uncertainty surrounding the lawful uses of genetic information.
Article de revue
One of the most contentious topics in public policy debates on genetics has been the use of genetic information by insurance companies. In the rush to confront concerns about potential misuses of genetic information, most European countries have since 1990 enacted genetic nondiscrimination legislation for life or health insurance. In the United States, the Genetic Information Nondiscrimination Act (GINA) was recently signed into law to provide protection against genetic discrimination for employment and health insurance.1,2
Article de revue
McGuire Amy L., Fisher Rebecca, Cusenza Paul, Hudson Kathy, Rothstein Mark A., McGraw Deven, et al. Confidentiality, privacy, and security of genetic and genomic test information in electronic health records: points to consider. Genet Med. 2008;10(7):495-499. Available from:
https://www.nature.com/articles/gim200876
As clinical genetics evolves, and we embark down the path toward more personalized and effective health care, the amount, detail, and complexity of genetic/genomic test information within the electronic health record will increase. This information should be appropriately protected to secure the trust of patients and to support interoperable electronic health information exchange. This article discusses characteristics of genetic/genomic test information, including predictive capability, immutability, and uniqueness, which should be considered when developing policies about information protection. Issues related to “genetic exceptionalism”; i.e., whether genetic/genomic test information should be treated differently from other medical information for purposes of data access and permissible use, are also considered. These discussions can help guide policy that will facilitate the biological and clinical resource development to support the introduction of this information into health care.
Article de revue
We report first results from the Australian Genetic Discrimination Project of clinical genetics services clients' perceptions and experiences regarding alleged differential treatment associated with having genetic information. Adults (n = 2667) who had presented from 1998 to 2003 regarding predictive or presymptomatic testing for designated mature-onset conditions were surveyed; 951/1185 respondents met inclusion criteria for current asymptomatic status. Neurological conditions and familial cancers were primary relevant conditions for 87% of asymptomatic respondents. Specific incidents of alleged negative treatment, reported by 10% (n = 93) of respondents, occurred in life insurance (42%), employment (5%), family (22%), social (11%) and health (20%) domains. Respondents where neuro-degenerative conditions were relevant were more likely overall to report incidents and significantly more likely to report incidents in the social domain. Most incidents in the post-test period occurred in the first year after testing. Only 15% of respondents knew where to complain officially if treated negatively because of genetics issues. Recommendations include the need for increased community and clinical education regarding genetic discrimination, for extended clinical genetics sector engagement and for co-ordinated monitoring, research and policy development at national levels in order for the full benefits of genetic testing technology to be realised.
Article de revue
Penziner Elizabeth, Williams Janet K., Erwin Cheryl, Bombard Yvonne, Wallis Anne, Beglinger Leigh J., et al. Perceptions of discrimination among persons who have undergone predictive testing for Huntington's disease. Am. J. Med. Genet.. 2008;147B(3):320-325. Available from:
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.b.30600
Potential discrimination from genetic testing may undermine technological advances for health care. Researching long-term consequences of testing for genetic conditions that may lead to discrimination is a public health priority. The consequences of genetic discrimination generate social, health, and economic burdens for society by diminishing opportunities for at-risk individuals in a range of contexts. The current study objective was to investigate perceptions of genetic stigmatization and discrimination among persons who completed predictive testing for Huntington’s disease (HD). Using semi-structured interviews and computerized qualitative analysis, the perceptions of 15 presymptomatic persons with a positive gene test predicting HD were examined with regard to differential treatment following testing. The sample comprised 11 women, 4 men, mostly married (73%), aged between 22 and 62 years, average education of 14.6 years (SD ± 2.57) , and residing in urban, rural and suburban settings of eight U.S. States. Participants reported consequences following disclosure of genetic test results in three areas: employment, insurance, and social relationships. Although most employed participants (90%) revealed their test results to their employers, nearly all reported they would not disclose this information to future employers. Most (87%) participants disclosed test results to their physician, but a similar majority (83%) did not tell their genetic status to insurers. Most participants (87%) disclosed test results to family and peers; patterns of disclosure varied widely.
Article de revue
Bombard Yvonne, Penziner Elizabeth, Suchowersky Oksana, Guttman Mark, Paulsen Jane S, Bottorff Joan L, et al. Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease. Eur J Hum Genet. 2008;16(3):279-289. Available from:
http://www.nature.com/articles/5201937
It has been over 20 years since the inception of predictive testing for Huntington disease (HD), yet the social implications of knowing one's genetic risk for HD have not been fully explored. Genetic discrimination (GD) is a potential risk associated with predictive testing. Although anecdotal reports of GD have been documented, there is a paucity of research on the nature and experiences of GD in the context of HD. The purpose of this study was to describe the concerns and experiences of GD in the HD community. Semistructured interviews were conducted with 45 genetically tested and 10 untested individuals and analyzed using grounded theory methods. Our findings demonstrate that a majority of individuals were concerned about (37/55) and experienced GD (32/55) across a variety of contexts that extend beyond the traditionally examined contexts of insurance and employment to include family, social, government, and health-care domains. We describe a process of engagement with GD in which individuals formed meaningful interpretations of GD and personalized its risk and consequences in their lives. Our findings provide an insight into some of the specific processes and factors influencing engagement with GD. These results help identify areas where more education and support is needed and provide direction to genetic professionals supporting their clients as they confront issues of GD and genetic testing.
Article de revue
The Genetic Information Nondiscrimination Act of 2008 (GINA)1 was signed into law on May 21, 2008, after a 13-year struggle in Congress. GINA prohibits genetic discrimination in employment and health insurance, thereby supplementing existing federal protections against genetic discrimination in employer-sponsored group health plans contained in the federal Health Insurance Portability and Accountability Act of 1996 (HIPAA)2 and state laws prohibiting genetic discrimination in employment and individual health insurance.
Article de revue
It has been pending in Congress for twelve years, despite the support of the last two presidential Administrations and the National Institutes of Health. It has been the subject of extensive affirmative lobbying by academic medical centers, pharmaceutical and biotech companies, genetic disease advocacy groups, and civil rights organizations. It has overcome vehement objections by employers and insurers. Its final passage, however, has been thwarted by a few Congressional leaders, who have prevented enactment despite overwhelming bipartisan support in both houses of Congress. Based on this legislative history, one could not help but assume that the Genetic Information Nondiscrimination Act (GINA) is a revolutionary piece of legislation that, if finally enacted, would provide extensive, effective, and comprehensive protection against genetic discrimination in health insurance and employment Unfortunately, such an assessment would be incorrect. Indeed, GINA may be a case of too much ado about too little.
Article de revue
Otlowski Margaret, Taylor Sandra, Barlowstewart Kristine, Stranger Mark, Treloar Susan. The Use of Legal Remedies in Australia for Pursuing Allegations of Genetic Discrimination: Findings of an Empirical Study. International Journal of Discrimination and the Law. 2007;9(1):3-35. Available from:
https://doi.org/10.1177/135822910700900102
Differential treatment on the basis of genetic status (genetic discrimination), has become an issue of international concern. The Genetic Discrimination Project (GDP) is an Australia-wide study which has empirically examined the nonmedical/health advantages and disadvantages for individuals who have gained specific information about their genetic status (typically through genetic testing). A major component of this project has been the Legal System Study which investigated and documented all cases involving allegations of genetic discrimination coming before anti-discrimination tribunals and other relevant bodies in Australia. Another major component of the project, the Consumer Study, investigated allegations of genetic discrimination from consumers of genetic tests. While the study identified a relatively small number of cases where allegations of genetic discrimination have been pursued under Australian anti-discrimination legislation, a key finding was the notable lack of uptake of legal remedies by those who may have experienced such discrimination. This paper explores possible factors contributing to this lack of uptake and makes recommendations to facilitate access to legal remedies by those who may have been subject to unlawful genetic discrimination.
Article de revue
Van Hoyweghen Ine, Horstman Klasien, Schepers Rita. Genetic ‘Risk Carriers’ and Lifestyle ‘Risk Takers’. Which Risks Deserve our Legal Protection in Insurance?. Health Care Anal. 2007;15(3):179-193. Available from:
https://link.springer.com/10.1007/s10728-006-0041-5
Over the past years, one of the most contentious topics in policy debates on genetics has been the use of genetic testing in insurance. In the rush to confront concerns about potential abuses of genetic information, most countries throughout Europe and the US have enacted genetics-specific legislation for insurance. Drawing on current debates on the pros and cons of a genetics-specific legislative approach, this article offers empirical insight into how such legislation works out in insurance practice. To this end, ethnographic fieldwork was done in the underwriting departments of Belgian insurance companies. Belgium was one of the first European countries introducing genetics-specific legislation in insurance. Although this approach does not allow us to speak in terms of ' the causal effects of the law', it enables us to point to some developments in insurance practice that are quite different than the law's original intentions. It will not only become clear that the Belgian genetics-specific legislation does not offer adequate solutions to the underlying issues it was intended for. We will also show that, while the legislation's focus has been on the inadmissibility of genetic discrimination, at the same time differences are made in the insurance appraisal within the group of the asymptomatic ill. In other words, by giving exclusive legal protection to the group of genetic risks, other non-genetic risk groups are unintendedly being under-protected. From a policy point of view, studying genetics-specific legislation is especially valuable because it forces us to return to first principles: Which risks deserve our legal protection in insurance? Who do we declare our solidarity with?
Article de revue
A major component of the Genetic Discrimination Project (GDP), an Australia-wide study to examine the advantages and disadvantages for individuals of having genetic information and cases of alleged genetic discrimination, is the analysis of insurers' use of genetic test results. The peak life insurance body, IFSA, had collected data through the Australian Institute of Actuaries (AIA) for the period June 1999-May 2003 from life insurance companies in Australia regarding their use of genetic test results in insurance underwriting. The GDP negotiated with IFSA and the AIA for access to this data for independent analysis. Applications from 288 individuals who had disclosed a genetic test result included products for cover for death, trauma/crisis, income protection/disability and total and permanent disablement. A total of 81% (234/288) contained usable data for analysis. These cases involved the genetic conditions haemochromatosis (71%), Huntington disease (12%) and breast/ovarian cancer (6%). In 49% of cases, the genetic test result was described as the only influencing factor and of these, 32% involved a "positive" genetic test result. Whilst underwriting in most cases appeared to be reasonable, the article highlights several cases involving disclosure of a positive predictive test result for breast/ovarian cancer that required further investigation.
Article de revue
Taylor Sandra, Treloar Susan, Barlow-Stewart Kristine, Otlowski Margaret, Stranger Mark. Investigating Genetic Discrimination in Australia: Perceptions and Experiences of Clinical Genetics Service Clients regarding Coercion to Test, Insurance and Employment. Australian Journal of Emerging Technologies and Society. 2007;5(2):63-83. Available from:
https://espace.library.uq.edu.au/view/UQ:134802
Survey and interview-based findings from the Consumer Study of the Australian Genetic Discrimination Project (GDP) are reported. These involve perceptions and experiences of clinical genetics clients regarding coercion to undertake genetic testing and insurance and employment-related issues. Genetic discrimination is defined as the differential treatment of asymptomatic individuals because of actual or presumed genetic differences. Eligible adults (n=2667) who had requested predictive testing for designated mature-onset conditions, 1998 to 2003, were surveyed; 951/1185 respondents met asymptomatic inclusion criteria. Neurological disorders and familial cancers were relevant to the majority. Sources of coercion, where reported, included family members, doctors, geneticists/counsellors and life insurers. Insurance and employment related issues were raised; some respondents reported avoiding or being advised not to apply for life insurance. Interview data further elucidate context and impact of coercion and/or negative treatment. The experiences of respondents where neurological conditions were relevant differed from others. Implications of the study are discussed. Adapted from the source document.
Chapitre de livre
Otlowski M, Skene L. Consumer Experiences and Predictive Genetic Testing. In: Stranger, M, editor. Human Biotechnology and Public Trust: Trends, Perceptions and Regulation. Centre for Law and Genetics; 2007. Available from:
https://eprints.utas.edu.au/5980/
This paper presents an overview of predictive genetic testing in Australia and reviews key literature regarding the complexity of the decision to undertake predictive genetic testing, including concerns about post-test genetic discrimination. Particular attention is given to predictive testing involving inherited neuro- degenerative conditions and familial cancers. Previous research undertaken by the author4 including selected findings from the Consumer Study within the Australian Genetic Discrimination Project (GDP) 5 are presented and discussed.
Article de revue
DNA identification methods are such an established part of our law enforcement and criminal justice systems it is hard to believe that the technologies were developed as recently as the mid-1980s, and that the databases of law enforcement profiles were established in the 1990s. Although the first databases were limited to the DNA profiles of convicted rapists and murderers, the success of these databases in solving violent crimes provided the impetus for Congress and state legislatures to expand the scope of the databases with little critical examination of each expansion's value to law enforcement or cost to privacy and civil liberties. We are now entering a new stage of DNA forensics, in which successive database expansions over the last decade have raised the possibility of creating a population-wide repository. In addition, new applications of DNA profiling, including familial and low stringency searches, have been added to DNA dragnets, the use of medical samples for forensic analysis, and other measures to create a series of crucial, yet largely unexplored, second-generation legal and policy issues.
Chapitre de livre
This book replaces the successful Controversies in Health Law. Under the same editorship and much the same authorship, it is substantially larger (30 chapters instead of 18) and correspondingly more comprehensive. It retains the lively analysis and the focus on controversial and cutting-edge problems. The chapters are broken up into parts covering Litigation and Liabilty; Reproductive Technologies; The Sequelae of the End of Life; Public Health; Ethical Frameworks and Dilemmas; Regulation; Human Rights and Therapeutic Jurisprudence; Research and Vulnerability and Information, Privacy and Confidentiality . They consider issues raised by new technologies, changing legislation and altering community expectations; by new regulatory processes for medicine and all of the health professions; by the fundamental changes to civil liability for medical negligence; by the fierce debate over the role of coroners. Disputes and Dilemmas in Health Law covers questions on property in human tissue and on the ethical and legal aspects of the genetics revolution; provides a modern take on "old" issues such as reproductive law; takes account of changes relating to expert evidence; and discusses how difficult cases in relation to psychiatric injury and wrongful life are pushing compensability to its edges.
Article de revue
The new knowledge from the Human Genome Project has created much interest and anticipation of improved health for the population. A significant aspect of this has been the expanded use of genetic testing to identify whether a person has the affected gene and is therefore at risk of developing a particular condition or, in the case of conditions inherited on an autosomal dominant basis, establishing that a person is presymptomatic of a condition that they will almost certainly develop. Whilst knowledge of genetic risk can be of great benefit, in allowing life-planning in the knowledge of that risk, and in some cases, taking of preventative measures, concerns have been generated about the availability of genetic test information, and the use that commercial third parties may seek to make of this information.
Article de revue
Freishtat R. J., Joly Y., Avard D., Ellenberg M., Knoppers B. M. Genetic Discrimination By Insurers As A Result Of Genetic Research And Testing: A Comparison Of National Policies. J Investig Med. 2005;53(2):S396.2-S396. Available from:
https://jim.bmj.com/lookup/doi/10.2310/6650.2005.00205.52
Fear of discrimination by health and life insurers has been shown to deter individuals from participating in genetic research and testing. We aimed to construct a comparison of genetic discrimination policies in Canada, Australia, the United Kingdom, and the United States providing useful lessons regarding the management of genetic discrimination public policy.
Article de revue
The issue of genetic discrimination has attracted growing attention and has been the focus of a recent major Australian inquiry. It is, however, a complex and loaded notion, open to interpretation. This paper explores the concept of genetic discrimination in both its theoretical and practical dimensions. It examines its conceptual underpinnings, how it is understood, and how this understanding fits within the legal framework of disability discrimination. The paper also examines the phenomenon in practice, including the 'fear factor' and the resulting implications for the development of regulatory policy. The paper argues that we need to be discerning in our interpretation of this term, and differentiate between discriminatory conduct which is legal and illegal. Further, it is argued that a concerted societal response to the 'problem' of genetic discrimination is needed involving targeted legal reforms as well as broader non-legal strategies.
Chapitre de livre
Barlow-Stewart S., Taylor S., Otlowski M. F. A. Knowing Your Genes. In: Australian Social Attitudes: The First Report. University of New South Wales Press; 2005. p. 204-219. Available from:
http://ecite.utas.edu.au/37733
A fascinating insight into what Australians think about contemporary political and social issues using data collected from the inaugural Australian Survey of Social Attitudes on the expressed opinions of some 4300 Australian adults. An excellent resource for students, teachers, researchers and policy makers, and for anyone interested in understanding the social dynamics of contemporary Australia.
Article de revue
Taylor Sandra D, Otlowski Margaret F, Barlow-Stewart Kristine K, Treloar Susan A, Stranger Mark, Chenoweth Kellie. Investigating genetic discrimination in Australia: opportunities and challenges in the early stages.. New genetics and society. 2004;23(2):225-239. Available from:
https://www.tandfonline.com/doi/abs/10.1080/1463677042000237053
Genetic discrimination, defined as the differential treatment of individuals or their relatives on the basis of actual or presumed genetic differences, is an emerging issue of interest in academic, clinical, social and legal contexts. While its potential significance has been discussed widely, verified empirical data are scarce. Genetic discrimination is a complex phenomenon to describe and investigate, as evidenced by the recent Australian Law Reform Commission inquiry in Australia. The authors research project, which commenced in 2002, aims to document the multiple perspectives and experiences regarding genetic discrimination in Australia and inform future policy development and law reform. Data are being collected from consumers, employers, insurers and the legal system. Attempted verification of alleged accounts of genetic discrimination will be a novel feature of the research. This paper overviews the early stages of the research, including conceptual challenges and their methodological implications.
Article de revue
Otlowski Margaret. An exploration of the legal and socio-ethical implications of predictive genetic testing of children.. Australian journal of family law. 2004;18(2):147-169. Available from:
https://pubmed.ncbi.nlm.nih.gov/17058338/
This article explores the current position in relation to predictive genetic testing of children, highlighting some of the legal and socio-ethical issues and complexities that such testing presents. It evaluates the existing regulatory framework for predictive genetic testing of children in Australia, including the possible role of the Family Court in protecting children from inappropriate testing, and suggests that introducing a more interventionist approach would create its own difficulties. The article also considers a particular issue arising in the context of predictive genetic testing of children which the ALRC/AHEC inquiry canvassed concerning disclosure obligations to insurers. The article argues that creating an exception to established principles of disclosure would mitigate the impact of predictive genetic testing of children and would be consistent with international instruments which seek to protect against unfair genetic discrimination.
Article de revue
Should women who come from at-risk families get life insurance before being tested for genetic susceptibility to breast cancer? Should physicians warn patients who request a genetic test to get life insurance first? How should physicians react to requests from insurance companies for genetic
Article de revue
Knoppers Bartha Maria, Lemmens Trudo, Joly Yann, Godard Béatrice, Avard Denise, Clark Teren, et al. Genetics and Life Insurance in Canada: Points to Consider. CMAJ : Canadian Medical Association Journal. 2004;170(9) Available from:
https://papyrus.bib.umontreal.ca/xmlui/handle/1866/76
Par contraste avec de nombreux pays européens qui ont clarifié leur position vis-à-vis la génétique et l’assurance vie, le Canada en est encore à établir la sienne. Toute initiative en ce domaine doit être basée sur une compréhension des mécanismes de l’assurance vie, de la nature de l’information génétique, de l’historique du débat au sujet de la génétique et de l’assurance vie au Canada et, finalement, des raisons pour lesquelles un groupe de travail canadien a décidé de relever le défi.
Article de revue
Treloar Susan, Taylor Sandra, Otlowski Margaret, Barlow-Stewart Kristine, Stranger Mark, Chenoweth Kellie. Methodological considerations in the study of genetic discrimination.. Community genetics. 2004;7(4):161-168. Available from:
https://www.karger.com/Article/Fulltext/82254
The potential significance and dimensions of genetic discrimination have been described extensively in published literature, but epidemiological and verified case data are limited. Obtaining unbiased data from individuals about discrimination which has been based on erroneous or unjustifiable assumptions about their genetic predispositions poses unique challenges. Through review and discussion of research literature, we identify methodological considerations for collecting valid epidemiological data on genetic discrimination from individuals in the community; in particular, we consider issues which relate to sampling, selection and response. We identify issues to promote sound study design, with particular attention to verification of genetic discrimination, and highlight the importance of clinical and genetic knowledge of complex genotype-phenotype relationships.
Livre
Experts discuss the economic, legal, and social issues surrounding the use of genetic testing in determining eligibility for life insurance.
Article de revue
Joly Yann, Knoppers Bartha M, Godard Béatrice. Genetic information and life insurance: a ‘real’ risk?. Eur J Hum Genet. 2003;11(8):561-564. Available from:
http://www.nature.com/articles/5200998
Public concern about genetic discrimination, particularly access to insurance following genetic testing, has been reported in the literature. This paper aims to separate myths from realities regarding genetic discrimination in life insurance and to underline the positive aspects of allowing insurers access to relevant genetic information for underwriting purposes. We present a review of the literature pertinent to discrimination in life insurance and a comparative analysis of industries guidelines. There are few reported cases in the literature of validated genetic discrimination. However, the benefits to be gained by allowing insurers access to relevant genetic data could justify fostering a more active role in the use of genetic information by insurance companies.
Article de revue
Reports of discrimination based on genetic test results have been documented in overseas jurisdictions since the early 1990s, including the United StatesFootnote1 and the United Kingdom,Footnote2 but it is only in more recent years that evidence has been emerging that genetic discrimination is also occurring in Australia.Footnote3 Following the first documented case study of genetic discrimination in Australia by Dr Sandy Taylor in 1998,Footnote4 two further Australian-based studies undertaken by Dr Kristine Barlow Stewart and David Keays have identified a total of 48 reported cases of genetic discrimination, primarily in the insurance and employment contexts.Footnote5 As accounts of genetic discrimination in Australia have come to light, interest in this newly emerging phenomenon, and concern about its implications for individuals affected, have been increasing. This growing level of concern is highlighted in the current national inquiry being undertaken in Australia by the Australian Federal Government which will examine the protection of human genetic information, with a strong focus on genetic discrimination.
Article de revue
Developments in human genetic technology, including those in the area of predictive genetic testing, hold great potential for improving health and for promoting Australia’s economic advancement.1 However, these developments have also generated concerns about the privacy of genetic information and the potential uses to which such information may be put. One of the emerging issues which has created particular disquiet is that of genetic discrimination; that is, the differential treatment of individuals on the basis of actual or presumed genetic differences.2 Whilst this may potentially take the form of positive or negative treatment, fears have focused on the use of genetic information by third parties which is prejudicial to a person’s interests, such as the exclusion from insurance or employment.
Article de revue
Otlowski Margaret F, Taylor Sandra D, Barlow-Stewart Kristine K. Major study commencing into genetic discrimination in Australia.. Journal of law and medicine. 2002;10(1):41-48. Available from:
https://europepmc.org/article/med/12242882
This article describes a nationwide empirical study that will be undertaken during the next three years into the newly emerging phenomenon of genetic discrimination. In particular, the study aims to investigate the nature and extent of genetic discrimination in Australia across three key perspectives: consumers, third parties and the legal system. Further, the study aims to examine the social and legal implications of genetic discrimination, with a view to making recommendations for use in the Australian legal and policy context. It is anticipated that the data produced from this multifaceted investigation will assist in identifying areas where legal or other reforms are required. It will contribute significant baseline data for facilitating ongoing assessment of the nature and extent of the problem, as well as for longitudinal evaluation of the impact and effectiveness of any reforms which may be introduced in the future to address the issue.
Article de revue
There is currently a significant level of debate in Australia and other jurisdictions about the appropriateness of intervention in the private insurance market to regulate the use of genetic test information by insurers. Whilst the issue has arisen most directly with the emergence of genetic testing, concerns appear to be extending to the use of any predictive genetic information for risk assessment purposes. Indeed, questions are currently being raised about insurers' use of family history information which is a source of information insurers have historically always had access to. In response to concerns about the use of genetic information, in August 2000, the Commonwealth Government established an Inquiry into the Protection of Human Genetic Information to be jointly conducted by the Australian Law Reform Commission and the Australian Health Ethics Committee of the National Health and Medical Research Council. Pursuant to this Inquiry, a Discussion Paper has recently been released which contains proposals for reform, amongst other things, covering the circumstances in which insurers can use genetic test information (Australian Law Reform Commission, 2002). The aim of this paper is to look at some of the problems associated with insurers' reliance on genetic information for underwriting purposes and to present the case for regulation (although not necessarily through legislative means). The main source of contention in relation to insurers' use of genetic information appears to lie in the field of predictive genetic test information: that is, in the situation where the individual is asymptomatic and the testing indicates that he/she is predisposed to developing a genetically related disease in the future. Predominantly, this contention is caused by limitations of the predictive value of such tests — usually only indicating that a person is at increased risk of developing a genetic disease, there being no certainty about this issue. It should be made clear from the outset that the scope of this paper is limited to those forms of voluntary insurance for which underwriting on health grounds is undertaken, such as life insurance, sickness and critical illness insurance: in the Australian context at least, this does not include health insurance for which a system of community rating is statutorily mandated pursuant to the National Health Act 1953 (Cth). Further, it should be noted that the paper is written primarily from a legal perspective. Clearly, economic efficiency implications would also need to be fully considered by policy makers.
Article de revue
Otlowski Margaret F, Taylor Sandra D, Barlow-Stewart Kristine K. Australian empirical study into genetic discrimination.. Genetics in medicine : official journal of the American College of Medical Genetics. 2002;4(5):392-395. Available from:
https://www.nature.com/articles/gim200258
This paper outlines a major empirical study that is being undertaken by an interdisciplinary team into genetic discrimination in Australia. The 3-year study will examine the nature and extent of this newly emerging phenomenon across the perspectives of consumers, third parties, and the legal system and will analyze its social and legal dimensions. Although the project is confined to Australia, it is expected that the outcomes will have significance for the wider research community as this is the most substantial study of its kind to be undertaken to date into genetic discrimination.
Article de revue
Otlowski Margaret. Employers' use of genetic test information: is there a need for regulation. Journal of Law and. 2002;8:1-39. Available from:
http://ecite.utas.edu.au/24578
Do employers have valid grounds for seeking genetic test information about existing employees or applicants for employment? Pre-employment health screening has long been a feature of Australian employment. Many are required to undergo a medical as a pre-condition of new employment. This is justified on the basis of fitness for the job, the need for employers' to meet their responsibilities under health and safety laws, and the need to control absenteeism and compensation claims. It has long been recognised that these pre-emplyment checks can also be used to discriminate on the basis of impairment or particular susceptibilities. Genetic testing may take a number of forms. Genetic monitoring involves ongoing testing or workers exposed to industrial hazards such as radiation or toxic chemicals. Susceptibility screening is testing asymptomatic individuals for genetic susceptibility to particular workplace hazards. This is a more controversial area. This can have clear OHS bebnefits, but also has a strong exclusionary focus. A further use of testing might be to provide information about a condition not directly linked to the workplace but which could put the employee, fellow employees or the public at large, at risk of harm. An example might be the late onset nuerological disorder Huntingtons Disease. The author goes on to examine the reasons that employers are interested in developments in genetic testing (the Human Genome prjoect makes more information available than ever before), current practices in employment, the current legal position regarding employer access to private genetic information, the requirement of consent, anti-discrimination protections and their limits, and then presents the arguments for and against employer access. Options for reform of laws and recommendations for regulation are also outlined.
Article de revue
The public policy debate concerning the desirability and scope of legislation prohibiting genetic discrimination has become increasingly volatile. Last year, a provocative opinion piece urging citizens to “gather courage to discriminate genetically” was widely syndicated1; another commentator suggested that genetic discrimination is “both rational and inevitable.”2 On the other hand, some prominent genetic scientists and legislators, as well as disease support groups, continue to make passage of laws with strong protections for affected individuals one of their top policy priorities.3,4 Genetic researchers and clinicians need to recognize the unarticulated assumptions about discrimination that shape the debate and understand the underlying tensions between differing accounts of justice and fairness. In this article, we explore some of the nuances of the term discrimination and some of the sources of disagreement, before asking when and how genetic discrimination can be prevented.
Livre
Otlowski Margaret. Implications of genetic testing for Australian insurance law and practice. Hobart, Tas: School of Law, University of Tasmania ; Faculty of Law, University of Melbourne; 2001. (Occasional paper / Centre for Law and Genetics, no. 1). Available from:
https://catalogue.nla.gov.au/Record/3424850
Genetic engineering -- Law and legislation -- Australia. | Liability insurance -- Law and legislation -- Australia. | Medical genetics -- Law and legislation -- Australia.
Article de revue
Anderlik Mary R., Rothstein Mark A. Privacy and Confidentiality of Genetic Information: What Rules for the New Science?. Annual Review of Genomics and Human Genetics. 2001;2(1):401-433. Available from:
https://doi.org/10.1146/annurev.genom.2.1.401
This review covers the ethical, legal, and policy issues associated with the generation and dissemination of genetic information. First, conceptual issues, such as the definition of terms and the description of two modes of analysis, are addressed. Research findings on public attitudes toward privacy and genetics and other factors relevant to policy making are also reviewed. Second, the example of genetic research is used to highlight the importance of attention to the intrinsic harms associated with violations of genetic privacy. Subtopics include national databases and biobanks, gene brokers, and pharmacogenomics. Third, the example of insurer access to genetic information is used to highlight the importance of attention to discrimination and other instrumental harms associated with failures of regulation. Fourth, a summary of the preceding sections leads into an outline of a program for realizing the benefits of the new science in a manner that affirms rather than erodes privacy and other important values.
Article de revue
Otlowski Margaret. Avoiding Genetic Discrimination in Insurance: An Exploration of the Legality and Ethics of Precautionary Measures in Anticipation of Unfavourable Test Outcomes. Monash Bioethics Review. 2001;20(1):24–32. Available from:
https://philpapers.org/rec/OTLAGD
Article de revue
Margaret Otlowski. Resolving the Conundrum: Should Insurers be Entitled to Access Genetic Test Information?. Insurance Law Journal. 2000;11:193-215.
Article de revue
Genetic privacy and confidentiality have both intrinsic and consequential value. Although general agreement exists about the need to protect privacy and confidentiality in the abstract, most of the concern has focused on preventing the harmful uses of this sensitive information. I hope to demonstrate in this article that the reason why genetic privacy and confidentiality are so difficult to protect is that any effort to protect them inevitably implicates broader and extremely contentious issues, such as the right of access to health care. Moreover, the tentative legislative and policy steps undertaken and proposed thus far have been, for the most part, misguided, simplistic, and ineffective.
Livre
The dramatic explosion of information brought about by recent advances in genetic research brings welcome scientific knowledge. Yet this new knowledge also raises complex and troubling issues concerning privacy and confidentiality. This thought-provoking book is the first comprehensive exploration of these ethical, legal, and social issues. Distinguished experts in law, medicine, bioethics, public health, science policy, clinical genetics, philosophy, and other fields consider the many contexts in which issues of genetic privacy arise?from research and clinical settings to workplaces, insurance offices, schools, and the courts.
