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Dyskryminacja genetyczna oznacza traktowanie kogoś w odmienny sposób ze względu na jego cechy genetyczne, które pozwalają stwierdzić, jakie predyspozycje zdrowotne ma człowiek. Przykładem jest genetyczne uwarunkowanie do zapadnięcia na chorobę Huntingtona czy ryzyko rozwoju raka jelita grubego. Z punktu widzenia prawa pojawia się ważny problem: czy wiedza o danych genetycznych może być wykorzystana w sposób, który będzie dyskryminował jednostkę? Przykładowo problem ten może polegać na tym, że ubezpieczyciel odmó­wi zawarcia z nami umowy dotyczącej ubezpieczenia na życie lub podwyższy naszą składkę. Pierwszą metodą badawczą jest analiza dogmatyczna, która obejmuje dwa elementy: metodę ilościową i jakościową przeprowadzenia inwentaryzacji prawa międzynarodowego oraz metodę prawnodogmatyczną, tj. krytyczną analizę literatury i orzecznictwa. Drugą metodą badawczą jest analiza prawnoporównawcza, która ma na celu porównanie regulacji występujących w uniwersalnym oraz regionalnym systemie praw człowieka. Celem niniejszego artykułu jest zbadanie, na ile kwestia zakazu dyskryminacji genetycznej jest uregulowa-na w prawie międzynarodowym publicznym. Dlaczego dyskryminacja genetyczna powinna być wyróżniona na tle ogólnych norm dyskryminacyjnych? Wiele aktów prawnych (np. Powszechna Deklaracja Praw Człowieka) zawiera ogólne normy antydyskryminacyjne. Przykłady dyskryminacji genetycznej wskazują jednak, że obecnie istniejące regulacje mogą okazać się niewystarczające. Artykuł jest także próbą odpowiedzi na pytanie, czym jest dyskryminacja genetyczna. Genetic discrimination means treating someone differently because of their genetic traits, which make it possible to determine what health predispositions a person has. Examples include a genetic predisposition to Huntington’s disease or the risk of developing colorectal cancer. From a legal perspective, an important issue arises: can knowledge of genetic data be used in a way that is discriminatory towards the individual? For example, the problem may be that the insurer refuses to enter into a life insurance contract with us or increases our premium. The first research method is the dogmatic analysis, which includes two elements: the quantitative and quali­tative method of making an inventory of international law and the legal-dogmatic method, i.e. the critical analy­sis of literature and case law. The second research method is a comparative legal analysis, which aims to compare regulations found in the universal and regional human rights systems. The aim of this article is to examine the extent to which the prohibition of genetic discrimination is reg­ulated in public international law. Why should genetic discrimination be singled out against general anti-dis­crimination standards? Many legal acts (e.g. the Universal Declaration of Human Rights) contain general anti-discrimination standards. However, examples of genetic discrimination indicate that current regulations may not be sufficient. This article also attempts to answer the question of what genetic discrimination is. Генетическая дискриминация означает иное отношение к человеку из-за его генетических признаков, которые определяют, какую предрасположенность к заболеваниям имеет человек. В качестве примера можно привести генетическую предрасположенность к болезни Гентингтона или риск развития колоректального рака. С юридической точки зрения возникает важная проблема: можно ли использовать данные о генетической информации таким образом, чтобы дискриминировать человека? Например, проблема может заключаться в том, что страховщик отказывается заключать с нами договор страхования жизни или увеличивает наш страховой взнос. Первый метод исследования – догматический анализ, который включает в себя два элемента: количественный и качественный метод изучения международного права и юридико-догматический метод, т.е. критический анализ литературы и судебной практики. Вторым методом исследования является сравнительно-правовой анализ, целью которого является сравнение положений, содержащихся в универсальной и региональной системе прав человека. Цель данной статьи – изучить, в какой степени запрет дискриминации по генетическим признакам регулируется международным публичным правом. Почему генетическую дискриминацию следует отличать от общих дискриминационных норм? Многие правовые документы (например, Всеобщая декларация прав человека) содержат общие антидискриминационные нормы. Однако примеры генетической дискриминации указывают на то, что существующих в настоящее время норм может быть недостаточно. Статья также является попыткой ответить на вопрос, что такое генетическая дискриминация. Генетична дискримінація означає різне ставлення до людини через її генетичні особливості, які дозволяють визначити, яка схильність до здоров’я людини. Приклади включають генетичну структуру хвороби Гентінгтона або ризик розвитку колоректального раку. З юридичної точки зору виникає важ­лива проблема: чи можна використовувати знання генетичних даних у спосіб, який дискримінує особу? Наприклад, проблема може полягати в тому, що страховик відмовляється укладати з нами договір стра­хування життя або підвищує наш внесок. Першим методом дослідження є догматичний аналіз, який включає два елементи: кількісний та якіс­ний метод проведення інвентаризації міжнародного права та юридично-догматичний метод, тобто кри­тичний аналіз літератури та юриспруденції. Другим методом дослідження є порівняльно-правовий аналіз, метою якого є порівняння норм в універсальній та регіональній системі прав людини. Метою цієї статті є дослідити, наскільки питання заборони генетичної дискримінації врегульовано міжнародним публічним правом. Чому слід відрізняти генетичну дискримінацію від загальних дискримі­наційних норм? Багато правових актів (наприклад Універсальна декларація прав людини) містять загальні антидискримінаційні норми. Однак приклади генетичної дискримінації вказують на те, що чинні правила можуть виявитися недостатніми. Стаття також є спробою відповісти на питання, що таке генетична дис­кримінація.

Precision medicine (PM) aims to revolutionise healthcare, but little is known about the role religion and spirituality might play in the ethical discourse about PM. This Perspective reports the outcomes of a knowledge exchange fora with religious authorities in Singapore about data sharing for PM. While the exchange did not identify any foundational religious objections to PM, ethical concerns were raised about the possibility for private industry to profiteer from social resources and the potential for genetic discrimination by private health insurers. According to religious authorities in Singapore, sharing PM data with private industry will require a clear public benefit and robust data governance that incorporates principles of transparency, accountability and oversight. Supplementary Information The online version contains supplementary material available at 10.1007/s41649-021-00180-4.

Genomics methods and the results of genomic research are widely used in many areas of human activity. However, the rapid development of technologies leads to the fact that legal regulation does not take into account all their opportunities and risks. Thus, in recent years, the so-called direct-to-consumer genetic testing (DCGT), a type of genetic testing performed at the initiative of the consumer and for his personal purposes, has become widespread. The range of issues that the tests touch on is very wide: from the origin and family ties determination to recommendations for choosing an occupation and hobbies. In Russia, this industry is currently rapidly developing. At the same time, there is no legal regulation of the industry. The paper examines the foreign experience of DCGT services regulation. The authors show significant influence of the concept of "genetic exclusivity" on the legislation regulating this industry. However, the integrity of approaches to the regulation and the depth of consideration of controversial issues vary greatly. For the United States—the leader in both the number of companies providing DCGT services and the number of their clients—a self-regulation strategy remains the most characteristic one (at least until recently). Countries such as France, Germany, and Israel have adopted the tough stance against DCGTs, effectively prohibiting genetic testing without prescription. This is preconditioned by both the objective shortcomings of genetic tests and the originality of the historical past and social structure of these countries. We believe that the optimal way for Russia is self-regulation with the provision of the broadest and most objective information about the possibilities and limitations of DCGT on the part of professional communities (geneticists, bioethics specialists).

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.

Clinical guidelines recommend that women at high risk of breast cancer should consider various risk-management options, which remain widely underutilized. We conducted semi-structured, qualitative interviews with 50 high-risk women to understand how financial constraints affect use of genetic counseling, genetic testing, and further risk-management decisions. Inductive analyses revealed three categories of health-related financial constraint: (a) lack of insurance, (b) underinsurance, and (c) other financial constraints (e.g., medical debt, raising children, managing comorbidities). Various breast cancer risk-management actions were limited by these financial constraints, including genetic counseling, genetic testing, enhanced screening, and prophylactic surgeries. Women's narratives also identified complex relationships between financial constraint and perceptions of healthcare providers and insurance companies, particularly as related to bias, price transparency, and potential genetic discrimination. Results from this study have implications for further research and expansion of genetic counseling services delivery to more economically and racially diverse women.

Background: The development of large data sets, including genomic data, coupled with rapid advances in personalized medicine where citizens increasingly face complex choices about the use of their genomic information implies that citizens are essential stakeholders in genomics. They should be engaged in the ethical, legal and societal issues to produce a framework that fosters trust and allows them to guide the technology based on their values. Objective: This article highlights that citizens' conceptions of the human genome inform about and make sense of their main values regarding the use of genomic information, which is critical for policymakers, experts and stakeholders to understand to maintain the public support in genomics. Method: Through an inductive thematic approach, we reanalysed data collected for the Belgian citizen forum, which aimed to produce recommendations for the Ministry of Public Health and other stakeholders. Results: Citizens expressed four conceptions of the genome that determined which uses of genomic information they supported: the most intimate part of individuals; ‘I am more than my genome’; the individual's property vs the common good; and uncertainty and fear. Conclusion: Diversity in their conceptions reveals remaining conflicts of values among citizens, mainly regarding a conception of the genome as an individual property or a common good. However, despite differing conceptions, shared values emerged such as solidarity, privacy, no genetic discrimination and the right to an open future, where individual and common interests coexist. Patient or public contribution: The panel of the citizen forum consisted of 32 citizens.

The sequencing of the human genome and advances in gene therapy and genomic editing, coupled with embryo selection techniques and a potential gerontological intervention, are some examples of the rapid technological advances of the “genetic revolution.” This article addresses the methodological issue of how we should theorize about justice in the genomic era. Invoking the methodology ofnon-ideal theory, I argue that theorizing about justice in the genomic era entails theorizing about (1) the new inequalities that the genetic revolution could exacerbate (e.g., genetic discrimination, disability-related injustices, and gender inequality),and(2) those inequalities that the genetic revolution could help us mitigate (e.g., the risks of disease in early and late life). By doing so, normative theorists can ensure that we develop an account of justice that takes seriously not only individual rights, equality of opportunity, the cultural and sociopolitical aspects of disability, and equality between the sexes, but also the potential health benefits (to both individuals and populations) of attending to the evolutionary causes of morbidity and disability.

It is difficult now to imagine the field of life, where genetic technologies have not been used. In Russia, there are already genetic passports of athletes, which made it possible to identify so-called "sports genes" that can predict individuals' inclination to a particular sport. In the United States of America, the Department of Defense (DOD) collects and uses the genetic information of all U.S. service members, including active duty and reserve military personnel. This article aims to explore the connection between genetic discrimination and protection of privacy. Whether the accessibility of such genetic data at the disposal of third parties will not lead to violations of their privacy that could further result in genetic discrimination? Basic human rights instruments in domestic and international law that regulates the right to non-discrimination and right to privacy will be reviewed beneath.

Background Availability of genetic testing in neurodegenerative disorders has developed rapidly. This growing ability is providing specific genetic information to individuals and, in turn, their families, raising ethical concerns. However, family members' perspective is a seldom-studied phenomenon. Aim The aim of this systematic review was to describe the ethical aspect of genetic testing in neurodegenerative diseases from the perspective of at-risk family members. Method A systematic review of data was performed in accordance with the PRISMA statement. The data search was conducted using the CINAHL, PubMed and Scopus databases to identify original peer-reviewed studies published between January 2009 and April 2019. A total of 24 articles were selected. The data were analysed using inductive content analysis. Findings On the basis of the analysis, four central ethical implications were identified: (i) decision-making in genetic testing as a dilemma: balance between autonomy and responsibility, (ii) the individual's right to make a voluntary and informed decision for genetic testing, (iii) conflicting emotions after knowing one's genetic status and (iv) privacy and confidentiality of genetic information: the fear of genetic discrimination and stigma. Conclusions The findings of this review increase understanding about the central ethical implications of genetic testing in neurodegenerative diseases from the perspective of family members, and identify and underline outstanding needs for further research.

Genetic testing is a very attractive source of information for insurers, who often associate this opportunity with improving the risk assessment of personal insurance, as it is a key factor in determining whether insurers are willing to offer coverage to a particular individual and at what price. At the same time, statements are increasingly being made about the possibility of discrimination against policyholders and insured persons due to the expansion of the practice of using such information, which required the adoption of appropriate legislative decisions by a number of countries, although it is too early to talk about the formation of a systematic approach to solving this problem. An analysis of the legislation of a number of states revealed several approaches to solving this problem. The author highlights the countries that have established a complete ban on the use of genetic information in insurance (Austria, Norway, France), including in the context of protecting the rights to protect personal data of third parties (Spain, Portugal), as well as differentiated conditions for the use of genetic data depending on the amounts insurance coverage for life insurance, accident insurance (including at work); on the specific circumstances, determined by the legislator, and the reasons for the genetic study (Switzerland); from the participation of the insured in the program for the detection and prevention of congenital diseases (Israel).

The paper deals with the features of the legal regulation of genetic research in the Commonwealth of Australia with due regard to the state structure, national, ethical and other factors. The primary source of law in Australia is the common law articulated in judicial precedents (case law) that has recently been supplemented by acts of statutory regulation. The paper thoroughly investigates the processes of storage, access and protection of full-genome sequencing data. The authors analyze the peculiarities of functioning of the judicial system of Australia; the experience of normative consolidation of informed consent for genetic research, confidentiality of obtained information, strategic priorities in integration of the results of genetic research into Australia’s health system. The paper provides the analysis of the list of documents containing indications of cases in which medical organizations should not collect confidential information about a person. As a result of the study, the authors identify certain gaps in the normative legal regulation of genetic research and inconsistencies and contradictions of certain normative legal acts. The paper focuses on specifics of genetic research with the participation of the Aboriginal population of Australia, which, in turn, will help in the formation of the relevant legal framework in the Russian Federation.As a conclusion, the authors note that in the field of legal regulation of the processes of storage, access and protection of genetic information in Australia there is a tendency to use normative regulators. Particular attention is drawn to the normative consolidation of the priority of public interests over private interests and its reflection not only in numerous reservations and exceptions, but also in the framework of generally relevant strategic priorities. Presuming the development of the similar legal framework in the Russian Federation and taking into account the multiethnicity of the population, it should be highlighted that Australia’s experience in implementing the genetic research involving the Aboriginal population should be implemented.

Background: Most genetics studies lack the diversity necessary to ensure that all groups benefit from genetic research. Objectives: To explore facilitators and barriers to genetic research participation. Methods: We conducted a survey on genetics in research and healthcare from November 15, 2017 to February 28, 2018 among adult Kaiser Permanente (KP) members who had been invited to participate in the KP biobank (KP Research Bank). We used logistic regression to calculate adjusted odds ratios (ORs) and 95% confidence intervals (CIs) comparing the willingness to participate in genetic research under different return of results scenarios and genetic discrimination concerns between groups, according to their demographic characteristics. Results: A total of 57,331 KP members were invited to participate, and 10,369 completed the survey (18% response rate). Respondents were 65% female, 44% non-Hispanic White (NH White), 22% Asian/Native Hawaiian or other Pacific Islander (Asian/PI), 19% non-Hispanic Black (NH Black), and 16% Hispanic. Respondents willing to participate in genetic research ranged from 22% with no results returned to 87% if health-related genetic results were returned. We also found variation by race/ethnicity; when no results were to be returned, Asian/PIs, Hispanics, and NH Blacks were less likely to want to participate than NH Whites (p < 0.05). However, when results were returned, disparities in the willingness to participate disappeared for NH Blacks and Hispanics. Genetic discrimination concerns were more prevalent in Asian/PIs, Hispanics, and NH Blacks than in NH Whites (p < 0.05). Conclusions: Policies that prohibit the return of results and do not address genetic discrimination concerns may contribute to a greater underrepresentation of diverse groups in genetic research.

Rising prices for new, transformative therapies are challenging health systems around the world, leading many payers and providers to begin rationing access to treatments, even in the countries that have been most resistant to doing so. This is the case for direct-acting antivirals (DAAs) for the treatment of hepatitis C virus (HCV). However, little attention has been paid to the increasing role that human genetics might play in rationing decisions. Researchers have already proposed that genetic markers associated with spontaneous HCV clearance could be used to restrict DAA access for some patients, although treatment would be medically beneficial for those patients. Would such forms of rationing present a form of genetic discrimination? And what of the public health implications of these approaches? Here we present an ethical analysis of such proposals for “precision rationing” and raise 4 key areas of concern. We argue that ethical issues arising in this area are not substantively different from the pressing ethical issues regarding rationing and discrimination more broadly, but provide important impetus for motivating broad public debate to find ethically sound ways of managing genomics and new expensive medications.

Genome sequencing (GS) studies involving healthy children can advance scientific knowledge of genetic variation. Little research has examined primary care providers’ views on using GS in this context. This study explored primary care provider perspectives on the use of GS in research and the care of healthy children. We conducted semi-structured interviews with 16 providers discussing their views on GS research and receiving results. Interviews were analyzed by thematic analysis and constant comparison. Participants were family physicians (11/16) and primary care pediatricians (5/16) in practice for >10 years (11/16). Participants valued GS in healthy children for research purposes; however, opinions diverged on using the results in primary care. Proponents valued using results for surveillance and prevention in healthy children. Skeptics questioned the clinical utility of results and the appropriateness of applying research data in primary care. Both groups shared concerns over opportunistic screening, validity, and interpretation of results, increased health system costs and inequities, and genetic discrimination. Primary care providers were ambivalent about the appropriateness and utility of GS in the care of healthy children. Providers feel unprepared and unsure of their obligations in disclosing these results. Providers do not feel they are equipped with the necessary resources and training to support their patients in using GS results in their care.

Huntington's disease (HD) is an inherited neurodegenerative disease. People at risk for HD can choose to get predictive testing years before the clinical onset. HD is characterized by motor, cognitive and psychiatric symptoms and has a mean age at onset between 30 and 50 years, an age at which people are usually still working. This systematic review focuses on summarizing which disease-specific characteristics influence employment and working capacity in HD. Twenty-three studies were identified and showed that while employment and working capacity in HD are negatively influenced by cognitive decline and motor impairments, apathy already plays a role in the prodromal stage. Moreover, the influence of HD transcends the clinical manifestation of the disease, as some people at risk are already experiencing the impact of HD on employment through fear of or actual genetic discrimination. Employment and working capacity are not influenced by predictive testing for HD in and of itself.

In this PhD, my goal was to identify potential barriers to the translation of genetic findings in the field of mental health and improve our understanding of how the public responds to genetic information. The present thesis intended to increase our understanding of the factors associated with knowledge about genetics and attitudes towards genetic testing above and beyond literacy. In particular, there were five aims: (1) provide a theoretical framework for communication in genetics; (2) estimate the prevalence of attitudes and education needs in the general population; (3) evaluate the usefulness of a motivated cognition model to predict knowledge about genetics and attitudes in the general population; (4) explore the genetic and environmental influences underlying genetic deterministic thinking and on the covariation between heuristic thinking, need for cognitive closure, and conservative values; and (5) evaluate portrayal of genetic in the news using modern text mining methods. In order to achieve this, I conducted studies on mass media coverage of genetic research, surveys on literacy and attitudes towards genetic testing in general population, twin studies on the genetic and environmental influences in deterministic thinking, and correlational studies on the interaction between values, psychosocial variables, and attitudes towards genetic testing.In Chapter 1, I conducted a narrative review and integrate theories from social psychology and science communication to explain previous findings in public understanding of genetics. I also developed recommendations for future communication campaigns in the area of mental health genetics. The main conclusion from this review is that we would benefit from a more complex theory supporting science communication in behaviour genetics. In particular, we need to move away from a deficit model of public understanding of genetics (i.e., people are rational thinkers who simply lack knowledge). Based on previous works in social psychology and science communication, there are reasons to expect that heuristic thinking and personal values could influence people’s attitudes towards genetics.In Chapter 2, I describe the samples, questionnaires, and core concepts of the methodology used in Chapters 3-5. This includes description of participants, materials, twin studies, and descriptive analyses common to the following chapters.In Chapter 3, I report data on public interest in genetic testing for alcohol dependence, depression, and schizophrenia, as well as the prevalence of concerns associated with the availability of this technology, using a survey design (N=4,975). In addition, in this chapter I examined the link between intuitive heritability estimates and attitudes towards psychiatric genetics (e.g., the impact of high vs low perceived h2 on individuals’ worry about their own genetic predisposition, usefulness of genetic tests, etc.). The aim of this work is to inform future education campaigns as well as genetic counselling interventions by highlighting common fears and misunderstandings associated with learning about genetic predispositions for mental health disorders. I found a high interest in psychiatric genetic testing. There was also a non-trivial percentage of participants with serious concerns related to learning about personal genetic predisposition. I found a significant association between most attitudes and intuitive heritability, which highlights the complexity of educating the public about genetics.Next, genetic explanations of behaviour are often viewed in a deterministic way and can cause extremely negative outcomes, such as discrimination or pessimism about prognosis. However, based on the review conducted in Chapter 1, users’ responses to the use of genetics are expected to be subject to motivated cognition. That is, genetic literacy, personal values, and cognitive biases may influence how people respond to the incorporation of genetics in precision psychiatry. Therefore, in Chapter 4, I explored the motives associated with lay estimates of heritability, genetic denialism, genetic determinism, and genetic literacy, in samples from the general population and from a pool of genetic research participants using a survey design. In this chapter, I examine how cognitive styles, personal values, and other sociodemographic factors, influence the extent of deterministic thinking about genetics and attitudes towards the translation of psychiatric genetic information, such as worries about coping with the knowledge, worries about insurance coverage, usefulness for parenting, or attitudes towards potential partners based on their genetic predisposition. This chapter identifies key elements of motivated cognition that can inform areas like genetic counselling and media reporting. In particular, participants with a personal mental health diagnosis and/or a relative with diagnosis, women, and participants who endorsed more conservative values, estimated the heritability of mental health disorders to be higher. Conservative values were positively correlated with belief in genetic determinism but negatively correlated with genetic literacy. However, they were not associated with accurately estimating the heritability for specific mental health traits. Literacy, personal experiences, and values predicted accuracy of estimates of heritability for major depression better than for alcohol dependence, or schizophrenia. Finally, we found that genetic literacy was both predicted by education and moral valuesChapter 5, reports a study of the genetic and environmental influences on genetic deterministic thinking and its relation with conservative values and heuristic thinking using a twin study design. The rationale for this final chapter is that belief in genetic determinism is thought to be a specific case of psychological essentialism. The psychological essentialism hypothesis states that people are likely to see different people and groups as having underlying essences that make them who they are and determine their behaviour. Research into the roots of essentialist thinking suggests that it may stem from innate cognitive dispositions, although there is insufficient evidence to support this explanation. In addition, essentialist thinking is associated with need for closure: the desire for a simple, unambiguous answer on a given topic, compared to confusion and ambiguity. Need for closure is hypothesized to underlie essentialist thinking and conservative ideology, which in turn are strongly correlated with stereotyping and prejudice. Given that one of the main concerns among scientists is that biogenetic explanations can result in genetic discrimination, understanding how these processes are connected would prove invaluable in preventing negative consequences of genetic technologies. Therefore, in this chapter I evaluated: (1) the psychometric properties of a published scale for belief in genetic determinism; (2) the common and unique genetic and environmental influences in such scale and in its relationship with need for closure, heuristic thinking, conservative values, and prejudice against partners with genetic risk for depression, using a twin study design. My findings suggest that both individual differences in biological essentialism and the relationship between biological essentialism and motivated cognition show little genetic influence, supporting the idea of the influence of motivated cognition rather than innate mental processes. A specific set of moral values, binding foundations, which are highly correlated with conservative ideology, are significantly genetic correlated with cognitive phenotypes (i.e., need for closure and heuristic thinking).Finally, in Chapter 6, I conducted the first systematic text mining review of online media coverage of genome-wide association studies (GWAS) and analysed trends in media coverage, readability, themes, and mentions of ethical, legal, and social issues. Over 5,000 online news articles published from 2005 to 2018 in English language all over the world were included in the analyses. My results show that while some GWAS attract a large amount of online interest, many are not reported, and that those that are covered are described in language too complex to be understood by the general public. Ethical issues are largely unaddressed, while suggestions for translation are increasing over time. This review identifies areas that need to improve to increase the effectiveness and accuracy of the communication of genetic research findings in online media. We have also developed a website where all results can be explored interactively.In summary, this thesis explores the way in which the public respond to genetic information. The findings can inform media campaigns initiatives, genetic counselling interventions, and science communication more broadly. This thesis aims to improve the translation of genetic research by taking into account individual differences in public understanding of science.

Statement of Purpose: Digital healthcare, as it relates to big data and genomics, presents a real threat to privacy and ownership rights for individuals and society. Research Question/Hypothesis: Our experience with genomics provides a lens to facilitate the way we navigate toward a future health data space. Contemporary and innovative legal and ethical models can be applied to concepts of privacy, ownership, and consent in relation to big data. Significance: Technological innovation has transformed healthcare at a faster rate than legal reform, security measures, and consent policies can adapt. The Health Information Portability and Accountability Act (HIPAA) has been recognized as a work in progress, with respect to big data as it relates to healthcare and individual wellbeing. The shortcomings of HIPAA, and its application to big data, can be paralleled with its prior limitations surrounding genomics in the last two decades. The Genetic Information and Nondiscrimination Act (2008) and Genomic Data Sharing Policy (2015) were established to overcome HIPAA’s inadequacies concerning genetic discrimination and security. These policies can serve as a basic model for our approach to legislative reform as it relates to privacy risks with big data generated in healthcare and from healthy individuals in society who are not patients. In addition to notions of privacy, concepts of ownership and consent have become increasingly vague and opaque. The technological advancements have facilitated access and transmission of information, such that big data can be sold for financial gain for commercial enterprise. This applies to genomics, with companies like 23andMe, in addition to big data, as it relates to big tech giants like Apple or Google who oversee wearable and search term data. Clarity of ownership within a digital healthcare arena needs to be defined through ethical and legal frameworks at a global level. Approach: A narrative review of the literature published between 2010 and 2021 was performed using PubMed and Google Scholar. Articles discussing privacy, security, ownership, big data, and genomics were included as relevant literature. Importance: As a society, we are at a crossroads; we must determine the extent of privacy that we are willing to give for science and society. We cannot continue with the current status quo in hope that individual will be used for the greater good of society. We need to strive for a cohesive approach to combat privacy violations by encouraging legislative reform, ethical accountability, and individual responsibility.

Background Prostate cancer (PCA) germline testing (GT) is now standard-of-care for men with advanced PCA. Thousands of men may consider GT due to clinical and family history (FH) features. Identifying and consenting men for GT can be complex. Here we identified barriers and facilitators of GT across a spectrum of providers which informed the development of Helix – an educational and clinical/FH collection tool to facilitate GT in practice. Materials and Methods A 12-question survey assessing knowledge of genetics PCA risk and FH was administered December 2017-March 2018 in the Philadelphia area and at the Mid-Atlantic AUA meeting (March 2018). Responses were analyzed using descriptive statistics. Semi-structured interviews were conducted with medical oncologists, radiation oncologists, and urologists across practice settings from March-October 2020 as part of a larger study based on the TICD framework. Helix was then developed followed by user testing. Results Fifty-six providers (50% urologists) responded to the survey. Multiple FH and genetic knowledge gaps were identified: only 66% collected maternal FH and 43% correctly identified BRCA2 and association to aggressive PCA. Genetic counseling gaps included low rates of discussing genetic discrimination laws (45%). Provider interviews (n=14) identified barriers to FH intake including access to details and time needed. In user testing (n=10), providers found Helix helpful for FH collection. All providers found Helix easy to use, suggesting expanded clinical use. Conclusion Helix addressed multiple GT knowledge and practice gaps across a spectrum of providers. This tool will become publicly available soon to facilitate PCA GT in clinical practice. Micro Abstract Prostate cancer (PCA) germline testing (GT) informs precision therapy, screening, and hereditary cancer risk. Identifying and consenting for GT is complex, requiring new practice strategies. We identified multiple knowledge and practice gaps among a spectrum of providers which informed the development of Helix, a digital educational and clinical/family history collection tool. User testing was promising, supporting clinical use of Helix.

Genetic discrimination can be defined as the differential, negative, treatment or unfair profiling of an individual based on presumed or actual genetic characteristics or on omics data. In the face of rapidly developing omics and data-driven technologies, coordinated actions need to be undertaken by stakeholders to document and address adverse consequences of technical advances and the genetic revolution. This article aims to inform the community about an international organization developed to address genetic discrimination, the Genetic Discrimination Observatory (GDO), and developments that have occurred since its international launch in late 2020. These developments indicate that genetic discrimination can take many forms and happen in multiple contexts in today’s rapidly evolving scientific and social environment. The need for an international organisation such as the GDO to inform the community and respond to these developments becomes crucial in this context.

Germline genetic testing is becoming more prevalent in urology clinics because of precision medicine for prostate cancer treatment. Genetic testing results can also influence cancer screening discussions for patients and/or their families. An important part of germline genetic testing is genetic counseling. This article provides an overview of the historical aspects of genetic counseling, discusses the components needed to provide proper genetic counseling, summarizes genes related to hereditary prostate cancer risk, and reviews genetic privacy and genetic discrimination concerns related to germline genetic testing.

PurposeInformed consent for genetic testing has historically happened during pre-test genetic counseling, without specific guidance defining which core concepts are required.MethodsThe Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendations Workgroup (CADRe) used a modified Expert Delphi consensus process to identify the core concepts essential to consent for clinical genetic testing. A literature review identified 77 concepts that are included in informed consent for genetic tests. Twenty five experts (9 medical geneticists, 8 genetic counselors, and 9 bioethicists) completed two rounds of Delphi surveys ranking concepts’ importance to informed consent.ResultsThe most highly ranked concepts included: (1) genetic testing is voluntary; (2) why the test is recommended and what does it test for; (3) what results will be returned and to whom; (4) are there other types of potential results; what choices exist; (5) how will prognosis and management be impacted by results; (6) what is the potential family impact; (7) what are the test limitations and next steps; (8) potential risk for genetic discrimination and legal protections.ConclusionDefining the core concepts necessary for informed consent for genetic testing provides a foundation for quality patient care across a variety of healthcare providers and clinical indications.

Background Data on the modalities of disclosing genomic secondary findings (SFs) remain scarce. We explore cancer patients’ and the general public’s perspectives about disclosing genomic SFs and the modalities of such disclosure. Methods Sixty-one cancer patients (n = 29) and members of the public (n = 32) participated in eight focus groups in Montreal and Quebec City, Canada. They were asked to provide their perspectives of five fictitious vignettes related to medically actionable and non-actionable SFs. Two researchers used a codification framework to conduct a thematic content analysis of the group discussion transcripts. Results Cancer patients and members of the public were open to receive genomic SFs, considering their potential clinical and personal utility. They believed that the right to know or not and share or not such findings should remain the patient’s decision. They thought that the disclosure of SFs should be made mainly in person by the prescribing clinician. Maintaining confidentiality when so requested and preventing genetic discrimination were considered essential. Conclusion Participants in this study welcomed the prospect of disclosing genomic SFs, as long as the right to choose to know or not to know is preserved. They called for the development of policies and practice guidelines that aim to protect genetic information confidentiality as well as the autonomy, physical and psychosocial wellbeing of patients and families.

Banning Genetic Discrimination in Life Insurance Fear of discrimination by life insurance companies has been an obstacle to progress in the use of genetic technologies in medicine and research. A n...

While genetic testing may be the gateway to the future of medicine, it also poses challenges for individuals, especially in terms of differentiated treatments on the basis of their genetic characteristics. The fear of unwanted disclosure to insurers and the possibility of genetic discrimination can hamper the recruitment of individuals for clinical research that involves genetic testing. Precision medicine initiatives, such as All of Us, are proliferating in the United States. In order to succeed, however, they must ensure that the millions of Americans recruited to share their genetic data are not penalized with regard to life, disability and long-term insurance coverage. In this Perspective, we discuss several initiatives adopted by countries around the world, such as the United Kingdom and France, that better balance the interests of insurers and research subjects, and explain how the United States might learn from them. We call for regulatory and industry leadership to come together to establish a voluntary moratorium on insurance pricing with the aim of protecting research participants.

In the article the author highlights that new technologies can significantly change both the life of each person and the development of human civilization as a whole. In this regard, it is necessary to draw attention to the fact of increasing importance of genetic information contained in human DNA in various areas of life of a human being and, due to this fact, the need for legal science to effectively protect the rights of an individual in order to prevent harm caused by the misuse of his genetic information.On the basis of the analysis of the problems arising in connection with the use of genetic information about a person, the author concludes that the legislation in this area needs to be improved also with a view to preventing discrimination against individuals on the basis of genome. By its legal nature, genetic information is an element of personal, family privacy of an individual and is included in the broader concept of privacy of the individual. Therefore it must be protected by law as an intangible benefit (Art. 150 of the Civil Code of the Russian Federation). However, the existing legal regulation is not able to take into account the specifics of genetic information and to provide effective protection against misappropriation and misuse of this information including protection against actions aimed at establishing restrictions on the basis of hereditary diseases and other characteristics in employment, conclusion of contracts of insurance, credit agreements, etc.

Minorities are underrepresented in genetic research. This study examined the attitudes, experiences, and willingness of persons of African descent related to participation in genetic research. A total of 272 persons of African descent completed a questionnaire about attitudes and experiences associated with genetic research. Descriptive, Chi-square, and logistic regression were used to examine the impact of attitudes and experiences in predicting the odds of willingness to participate in genetic research. A majority of participants (97%) indicated that they have never participated in genetic research; however, a majority also reported that they would be willing to participate in a genetic study specifically for the detection of risk factors for cancer (87%), diabetes (89%), alcohol use disorder (73%), and Alzheimer's disease (88%). Participants who disagreed that "results from genetic research can explain why some diseases are found more often in some ethnic groups than others" were less likely to be willing to participate in studies related to cancer (OR = 0.16), diabetes (OR = .16), alcohol use disorder (OR = 0.27), and Alzheimer's disease (OR = 0.27). Participants reported limited experiences engaging in genetic research; yet, they overwhelmingly acknowledged the importance of genetic research and expressed willingness to participate in multifactorial genetic studies despite concerns about genetic discrimination, stigma, and/or a potentially poor prognosis. Further research on the underlying reasons why persons of African descent choose to participate in genetic research should be explored and addressed to make research more inclusive and ethically sound.

Since the inception of large-scale human genome research, there has been much caution about the risks of exacerbating a number of socially dangerous attitudes linked to human genetics. These attitudes are usually labeled with one of a family of genetic or genomic "isms" or "ations" such as "genetic essentialism," "genetic determinism," "genetic reductionism," "geneticization," "genetic stigmatization," and "genetic discrimination." The psychosocial processes these terms refer to are taken to exacerbate several ills that are similarly labeled, from medical racism and psychological fatalism to economic exploitation and social exclusion. But as genomic information becomes more familiar in clinical and research settings as well as other life activities, do we need to continue to worry so much about this family of attitudes and their impact on existing problems? In genomics, the underlying anxiety has been that disclosure of genomic information will trigger a series of (seemingly unavoidable) negative responses that will affect individuals, their families, and their communities at large. The fundamental social challenges that hyperbolic genomic messaging, low genomic literacy, and "folk biology" help sustain remain to be addressed. If we hope to break the cycle of genomic isms and ations, we will have to get better at resisting overinterpretations of the relevance that genomics has for people's future potentials, ancestral vulnerabilities, community memberships, and ethnic affiliations.

Objective To review information concerning current federal genetic nondiscrimination laws to increase awareness and knowledge of these laws for oncology nurses. Data Sources Genetic information nondiscrimination policy research, case law, professional organization Web sites, peer-reviewed journals. Conclusion Genetic nondiscrimination is addressed in four major federal laws. The need continues for comprehensive federal genetic nondiscrimination legislation, applicable to all Americans regardless of their genetic predisposition. Implications for Nursing Practice: Oncology nurses need to effectively advocate for patients and their families by interpreting and disseminating provisions and limitations contained in existing federal genetic discrimination laws.

The Human Genome Project (HUGO) was initiated in 1990 to determine the susceptibility to genetic diseases lacking treatment based on the structural, functional characteristics of DNA and to provide diagnosis and treatment by discovering the locations, structures of genes. Despite the benefits HUGO offers to individuals and society in means of better treatments; possibility of genetic-specific discrimination and the demand for genetic superiorities in recruitment, causing psychological distress to patients and their relatives by making them go through the process of learning that they might develop a genetic disease make this project's future outcome questionable. Will there be requests to be more intelligent, taller, stronger, etc. in the search for genetic superiorities? These demands lead us to the notion of 'eugenics (being born as ‘better humans'-creation of superhumans-hereditary nobility)'. If we discuss the concept of eugenics within the notion of 'slippery slope' (as it is used in bioethics) we could formulate the argument in this way: when the first and innocent step A is taken, it is then followed by step B that defines an undesirable situation that is ethically unacceptable. Step 1,2 and 3 in HUGO is determining the susceptibility to genetic diseases, making the diagnosis and treatment possible; Step 4 and 5 is pre-determination of genes and eliminating defective genes; Step 6 is increasing the frequency of socially desirable genes and ensuring conceiving a child with blond hair, colored eyes, intelligence, etc.; Step 7 is the existence of privileged people in social and business life due to prenatal gene alterations. As it could be seen clearly, step 1, 2 and 3 might be a desirable outcome today however we realize that we might face a daunting situation in the future such as 'genetic discrimination' that occurs in step 7. It should be reminded that once we start rolling down the hill of morals and values it is inevitable that our values will be dragged to an uncontrollable and unstoppable point. Nevertheless, genetic researchers should be aware of our ethical values and they must take precautionary measures accordingly besides the international limitations on HUGO's usage.

Genome-wide association studies have revolutionized our understanding of the genetic architecture of complex traits and diseases over the last decade. This knowledge is enabling clinicians, researchers, and direct-to-consumer genetics companies to conduct disease susceptibility testing based on powerful methods such as polygenic risk scoring. However, these technologies raise a set of complex ethical, legal, social, and policy considerations. Here we review and discuss a series of ethical dilemmas associated with susceptibility genetic testing for the two most common late-onset neurodegenerative diseases, Alzheimer's and Parkinson's disease, including testing in asymptomatic individuals. Among others, these include informed consent, disclosure of results and unexpected findings, mandatory screening, privacy and confidentiality, and stigma and genetic discrimination. Importantly, appropriate counseling is a deciding factor for the ethical soundness of genetic testing, which poses a challenge for the regulation of these tests and the training of healthcare professionals. As genetic knowledge about these diseases continues growing and genetic testing becomes more widespread, it is increasingly important to raise awareness among researchers, medical practitioners, genetic counselors, and decision makers about the ethical, legal, and social issues associated with genetic testing for polygenic diseases.

The Genetic Information Nondiscrimination Act of 2008 (GINA) deviated from preceding employment discrimination laws by excluding disparate impact liability, an important enforcement component to promote substantive equality. Nevertheless, Congress did not intend for this to be a permanent exclusion and, instead, assigned itself future work: after six years, a commission was to educate Congress on genetic discrimination incidents, update Congress on relevant scientific advances in genetics/omics, and provide recommendations to Congress on the need to enable disparate impact liability. Ten years after GINA became law, it seems appropriate to take a look back at the broader employment law context within which Congress made this decision to exclude disparate impact liability for genetic discrimination, explore how and why Section 208 became inserted into GINA, and provide a status update on the additional policy work mandated. After reasonable investigation, there is no information to indicate that Congress fulfilled its statutory obligation to appoint members to a Genetic Nondiscrimination Study Commission or that any policy work envisioned by Section 208 has commenced. To fulfill a promise of fairness and equality, Congress must revisit the issue and enable disparate impact liability to value genetic diversity and prevent any ‘genetic underclasses’ from forming.

Ten years ago, the Genetic Information Nondiscrimination Act (‘GINA’) came into law. While it was unclear how prevalent genetic discrimination was, GINA was enacted preemptively to prevent discrimination in insurance and employment. It also created uniform protections to remedy a confusing patchwork of state and federal protections. Finally, Congress hoped GINA would allay public fears of genetic discrimination that discouraged people from undergoing genetic testing and participating in genetics research. To address those fears, Congress enacted robust protections against genetic discrimination in health insurance and employment, in part, by defining ‘genetic information’ as broadly as possible. Over the last ten years, however, the courts have been battling over the meaning of ‘genetic information’. One interpretive approach adheres strictly to GINA's statutory language; the second interprets the definition restrictively and contrary to the plain meaning of GINA and its underlying goals. While this interpretive conflict demonstrates the difficulty of distinguishing genetic information from non-medical information, this article argues for the broader interpretation. Such an interpretation reflects Congress's choice among imperfect definitional options and it furthers the goal of creating strong protections in health insurance and employment. Finally, definitional consistency is necessary to achieve uniform protections against genetic discrimination.

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.

Recent advances in metagenomic technology and computational prediction may inadvertently weaken an individual’s reasonable expectation of privacy. Through cross-kingdom genetic and metagenomic forensics, we can already predict at least a dozen human phenotypes with varying degrees of accuracy. There is also growing potential to detect a “molecular echo” of an individual’s microbiome from cells deposited on public surfaces. At present, host genetic data from somatic or germ cells provide more reliable information than microbiome samples. However, the emerging ability to infer personal details from different microscopic biological materials left behind on surfaces requires in-depth ethical and legal scrutiny. There is potential to identify and track individuals, along with new, surreptitious means of genetic discrimination. This commentary underscores the need to update legal and policy frameworks for genetic privacy with additional considerations for the information that could be acquired from microbiome-derived data. The article also aims to stimulate ubiquitous discourse to ensure the protection of genetic rights and liberties in the post-genomic era. Video abstract Supplementary Information The online version contains supplementary material available at 10.1186/s40168-021-01076-z.

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.

BackgroundThe 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.MethodsA realist evaluation framework was developed for the project, using a context-mechanism-outcome (CMO) approach, to systematically assess the impact of the moratorium for a range of stakeholders. Outcomes which need to be achieved for the moratorium to accomplish its intended aims were identified, and specific data collection measures methods were developed to gather the evidence from relevant stakeholder groups (consumers, health professionals, financial industry and genetic research community) to determine if aims are achieved. Results from each arm of the study will be analysed and published in peer-reviewed journals as they become available.DiscussionThe A-GLIMMER project will provide essential monitoring of the impact and effectiveness of the self-regulated insurance moratorium. On completion of the study (3 years) a Stakeholder Report will be compiled. The Stakeholder Report will synthesise the evidence gathered in each arm of the study and use the CMO framework to evaluate the extent to which each of the outcomes have been achieved, and make evidence-based recommendations to the Australian federal government, life insurance industry and other stakeholders.

Background The Dutch cascade screening model for FH was the most successful of such programs in the world. It remains unclear whether aspects of the Dutch model (i.e. direct engagement with FH probands and relatives outside usual healthcare settings) are feasible in the US. This is especially important since prior attempts at cascade screening in the US have had very low screening rates (, Graphical abstract Image, graphical abstract

This chapter provides an overview of the relationship between genetics and the law. Advances in genetics and genomics have created both hopes and concerns and raise a number of legal issues in both the United States and Europe. To understand the legal issues in genetics, it is helpful to have some understanding of the different types of genetic analysis that can be used and for which purposes. In virtually all these contexts, the doctrine of informed consent is important. While the law in the United States and Europe does not generally require non-directiveness, the legal doctrine of informed consent applies in all jurisdictions, imposing on physicians and genetic counselors the legal obligation to disclose material information that could influence a patient's decisions about genetic testing. The other ethical and legal issues that arise with genetic or genomic analysis differ depending on the purpose, context, and technology used. These legal issues concern the methods of regulating genetic tests offered in the clinical setting and through the “direct-to-consumer” online genetic testing industry; genetic discrimination; the scope of privacy protections of genetic information; and the regulation of human gene therapy, gene therapy research, and germline modifications.

This chapter discusses how the legal and ethical aspects of gene technology are both a national concern for European states and a European concern addressed by both the Council of Europe (CoE) and the European Union (EU). The CoE has been engaged in bioethical issues since the beginning of the 1980s and has adopted a number of recommendations and resolutions concerned with developments in biomedical science and technologies. Most notable is the adoption of the CoE Convention on Human Rights and Biomedicine (Oviedo Convention) in 1997, which focuses on a number of selected human rights aspects of developments in biomedicine. The Convention includes a number of general legal principles applying to medical interventions on human beings, including informed consent and the right to privacy. The chapter then assesses informed consent and genetic counselling, as well as specific issues related to genetic testing of adults, children, fetuses, and embryos. It also considers genetic research, direct-to-consumer genetic testing, genetic discrimination, gene therapy, and the protection of genetic information.

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.

To apply therapeutic jurisprudence principles is to examine whether laws, procedures, or legal actors enhance or detract from the mental well-being of those affected by them (i.e., are therapeutic or anti-therapeutic). In this piece, the co-authors propose recognition of peace-of-mind laws as those whose very presence brings a long-term therapeutic effect on quality of life for those impacted by them, while their absence elicits a negative impact. They suggest defining a peace-of-mind law as one (a) whose absence creates constant worry and concern (b) over the long-term (c) for the quality of life (d) of defined groups of people. The presence of the peace-of-mind law (a) reduces stress and (b) improves quality of life (c) which brings about peace of mind. Examples in the United States, the co-authors suggest, include aid-in-dying laws, expansion of health care coverage under the Affordable Care Act, long-term-care coverage under the short-lived Community Living Assistance Services and Supports Act, and the Genetic Information Non-Discrimination Act’s assurances that employers and insurers cannot discriminate on the basis of one’s genetic makeup.

Genetic discrimination (GD) is the differential or unfair profiling of an individual based on 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 GD can take many forms in today’s rapidly evolving society.

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 …

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.

Over twenty years after the Universal Declaration on the Human Genome and Human Rights alerted the international community of the need to prevent discriminatory use of genetic information, it still remains a pervasive issue. Legal efforts to address genetic discrimination (GD) solely at the national level are unlikely to resolve a problem that now transcends national frontiers. People should have the opportunity to avail themselves from novel genetic and computational biology technologies without fear of GD. To address the situation, we propose and initiate an international Genetic Discrimination Observatory (GDO) that involves a dynamic virtual network of researchers and stakeholders from over 19 jurisdictions. The GDO will produce information, tools and policy models to help assess and prevent GD. Some of these outputs are already available on the GDO website (https://gdo.global/en/gdo-description). In this paper we outline the reason and describe the basic features of this timely initiative.

The Genetic Information Nondiscrimination Act of 2008 (GINA) provides federal safeguards to prohibit employer or insurance discrimination based on personal or familial genetic information or conditions. Awareness of the implications of genetic testing in individuals and families and of state and federal legislation in place for their protection is an essential component of oncology nursing practice. This article discusses the critical role of the oncology nurse in interacting with and providing information about GINA to patients in a cancer care setting engaged in genetic assessment.

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.

This chapter explores the debate in the US over the use of genetic information by employers and insurers. It describes the passage and content of the Genetic Information Nondiscrimination Act (GINA), discusses the Act’s definition of genetic discrimination, and provides an overview of state laws aimed at preventing genetic discrimination. The chapter then turns to the use of genetic information in the workplace and examines how GINA limits the ability of employers to obtain, and use, genetic information when making hiring and other employment decisions. The discussion of employment is followed by an analysis of GINA’s impact on the use of genetic information in the health insurance context, which is contrasted to life, long-term care, and disability insurance, all unaffected by GINA. The final section of the chapter highlights a few of GINA’s accomplishments and speculates about how current policy is likely to be affected by changes in the science of genetic testing.