The paper deals with the use of predictive genetic tests in medical research. I limit my discussion to those advances in genetics which try to overcome the limits represented by our genetic make-up, in particular by gene mutations that lead, or could lead, to the development of genetic diseases. Besides the ethical issues concerning the topic of the current discussion, the reader will also find an evaluation of the legal provisions elaborated at the different (...) levels of the legal order. The aim of this evaluation is to find out which model of Law is being adopted in bioethical issues like the one discussed in this paper. The paper underlines and argues how Law can contribute to value and to spread an ethics of responsibility. Tekst se bavi primenom prediktivnih analiza u medicinskim istrazivanjima. Diskusija se odnosi samo na one vidove genetike kojima se pokusavaju prevazici ogranicenja sadrzana u nasem genetskom sklopu, pre svega ogranicenja koja su izazvana mutacijama gena koja izazivaju ili mogu izazvati pojavu genetskih oboljenja. Pored etickih pitanja vezanih za temu ove diskusije, tekst razmatra i pravna resenja s razlicitih nivoa pravog poretka. Cilj procene pravnih resenja je da utvrdi koji je pravni model usvojen u slucaju bioetickih pitanja kojima se bavi ovaj tekst. U tekstu se naglasava da zakon moze doprineti afirmisanju i sirenju etike odgovornosti. (shrink)

Genetic testing reveals information about a patient's health status and predictions about the patient's future wellness, while also potentially disclosing health information relevant to other family members. With the increasing availability and affordability of genetic testing and the integration of genetics into mainstream medicine, the importance of clarifying the scope of confidentiality and the rules regarding disclosure of genetic findings to genetic relatives is prime. The United Nations International Declaration on Human Genetic Data urges (...) an appreciation for principles of equality, justice, solidarity and responsibility in the context of genetic testing, including a commitment to honoring the privacy and security of the person tested. Considering this global mandate and recent professional statements in the context of a legal amendment to patient privacy policies in Australia, a fresh scrutiny of the legal history of a physician's duty to warn is warranted. This article inquiries whether there may be anything ethically or socially amiss with a potential future recommendation for health professionals or patients to universally disclose particular cancer predisposition genetic diagnosis to genetic family members. While much of the discussion remains applicable to all genetic diagnosis, the article focuses on the practice of disclosure within the context of BRCA1/2 diagnosis. An ‘ethic of care’ interpretation of legal tradition and current practice will serve to reconcile law and medical policy on the issue of physician disclosure of genetic results to family members without patient consent. (shrink)

Recent advances in genomic research have led to the development of new diagnostic tools, including tests which make it possible to predict the future occurrence of monogenetic diseases (e.g. Chorea Huntington) or to determine increased susceptibilities to the future development of more complex diseases (e.g. breast cancer). The use of such tests raises a number of ethical, legal and social issues which are usually discussed in terms of rights. However, in the context of predictive genetic (...) tests a key question arises which lies beyond the concept of rights, namely, What should we want to know about our future? In the following I shall discuss this question against the background of Kant’s Doctrine of Virtue. It will be demonstrated that the system of duties of virtue that Kant elaborates in the second part of his Metaphysics of Morals offers a theoretical framework for addressing the question of a proper scope of future knowledge as provided by genetic tests. This approach can serve as a source of moral guidance complementary to a justice perspective. It does, however, not rest on the – rather problematic – claim to be able to define what the “good life” is. (shrink)

Genetic testing can be used to determine if unexplained fractures in children could have resulted from a predisposition to bone fractures, e.g., osteogenesis imperfecta. However, uncertainty is introduced if a variant of unknown significance is identified. Proper interpretation of VUS in these situations is critical because of its influence on clinical care and in court rulings. This study sought to understand how VUS are interpreted and used by practitioners when there is a differential diagnosis including both osteogenesis imperfecta and (...) non-accidental injury.A 15-question survey was emailed to physicians who requested analysis of two genes, COL1A1 and COL1A2, from the University of Washington from 2005-2013 for patient cases involving suspicion of child abuse.Among the 89 participants, responses differed about when genetic testing should be ordered for osteogenesis imperfecta, who should be consulted about utilization of VUS test results, follow-up procedures, and who should receive the VUS results.There are no clear guidelines for how to interpret and follow up on VUS. In the legal setting, misinterpreted VUS could lead to unintended consequences and deleterious ramifications for family members. The need for better practice guidelines to help promote more equitable handling of these sensitive legal cases is clear. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:Genetic Testing and Genetic ScreeningPat Milmoe McCarrick (bio)In recent years there has been an enormous expansion in the knowledge that may be gleaned from the testing of an individual's genetic material to predict present or future disability or disease either for oneself or one's offspring. The Human Genome Project, which is currently mapping the entire human gene system, is identifying progressively more genetic sequencing information (...) (see Scope Note 17, The Human Genome Project). Information obtained from genetic testing raises ethical and legal questions about its uses by society. The ethical dilemmas were foreseen two decades ago by bioethicists who asked whether questionable applications could stop "legitimate pursuits" (IV, Gaylin 1972) and whether genetic disease might come to be viewed as "transmissible" in the sense of being contagious (IV, Veatch 1974).Not only has knowledge expanded, but the practice of genetic testing and screening has greatly increased as well. For example, in the case of testing for cystic fibrosis (CF), the U.S. Congress' Office of Technology Assessment (OTA) estimates that instances of screening jumped from 9310 tests in 1991 to 63,000 tests in 1992 (I, OTA [Cystic Fibrosis] 1992). In addition, the OTA estimates that within the next few years, the six million women who become pregnant each year routinely will be informed of available CF carrier tests (I, OTA [Cystic Fibrosis] 1992).Following the recent identification of a gene linked to breast cancer, Dr. Francis Sellers Collins, director of the National Center for Human Genome Research, said that "it is not inconceivable that every woman in America may want to be screened for this gene. The economic, ethical, and counseling issues will be very daunting." Dr. Collins opines that in the near future physical examinations for 18-year-olds will include DNA testing for diseases with genetic components and that physicians, in the interests of preventive medicine, will make risk-based recommendations for a healthy life-style (IV, Breo 1993). The U.S. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research predicted as early as 1983 that before the end of the century genetic screening and counseling would become major components of both public health and individual medical care (I, U.S. President's Commission 1983). [End Page 333]The OTA defines genetic testing as "the use of specific assays to determine the genetic status of individuals already suspected to be at high risk for a particular inherited condition. The terms genetic test, genetic assay, and genetic analysis are used interchangeably to mean the actual laboratory examination of samples." In contrast, genetic screening usually uses the same assays employed for genetic testing but is distinguished from genetic testing by its target population (I, OTA [Genetic Monitoring] 1990). The National Academy of Sciences (NAS) defines screening as the systematic search of populations for persons with latent, early, or asymptomatic disease (III, NAS 1975). Some of the literature annotated for this Scope Note appears to use the terms "testing" and "screening" interchangeably.Philip Boyle of the Hastings Center points out that the language used to describe genetic variation is important and asks what words should be used: "Defects, flaws, deleterious genes, disorders, or the more neutral conditions? Using words such as normal—and its corollary, abnormal—is likely to foster stigmatization and discrimination" (III, Genetic Grammar, Boyle 1992).Areas of focus in genetic testing include: prenatal diagnosis, newborn screening, carrier screening, forensic screening, and susceptibility screening.Prenatal diagnosis discerns whether a fetus is at risk for various identifiable genetic diseases or traits. Prenatal diagnosis is made using amniotic fluid, fetal cells, and fetal or maternal blood cells obtained during amniocentesis testing; alpha fetoprotein assays or chorionic villus sampling; or ultrasound tomography, which creates fetal images on a screen. Another method, known as fetoscopy, uses a camera on a needle inserted in the uterus to view the fetus. Since prenatal screening began in 1966 (I, U.S. President's Commission 1983), the number of metabolic defects and genetic disorders that can be diagnosed prenatally has expanded greatly. There is also discussion of requiring testing for parents who are participating in an in vitro fertilization program and are at genetic... (shrink)

With a growing number of genetic tests becoming available to the health and consumer markets, genetic health care providers in Canada are faced with the challenge of developing robust decision rules or guidelines to allocate a finite number of public resources. The objective of this study was to gain Canadian genetic health providers' perspectives on factors and criteria that influence and shape resource allocation decisions for publically funded predictive genetic testing in Canada. The (...) authors conducted semi-structured interviews with 16 senior lab directors and clinicians at publically funded Canadian predictive genetic testing facilities. Participants were drawn from British Columbia, Alberta, Manitoba, Ontario, Quebec and Nova Scotia. Given the community sampled was identified as being relatively small and challenging to access, purposive sampling coupled with snowball sampling methodologies were utilized. Surveyed lab directors and clinicians indicated that predictive genetic tests were funded provincially by one of two predominant funding models, but they themselves played a significant role in how these funds were allocated for specific tests and services. They also rated and identified several factors that influenced allocation decisions and patients' decisions regarding testing. Lastly, participants provided recommendations regarding changes to existing allocation models and showed support for a national evaluation process for predictive testing. Our findings suggest that largely local and relatively ad hoc decision making processes are being made in relation to resource allocations for predictive genetic tests and that a more coordinated and, potentially, national approach to allocation decisions in this context may be appropriate. (shrink)

Since the start of the program to investigate the ethical, legal, and social implications (ELSI) of the Human Genome Project in 1990, many ELSI scholars have maintained that genetic testing should be used with caution because of the potential for negative psychosocial effects associated with receiving genetic information. More recently, though, some ELSI scholars have produced evidence suggesting that the original ELSI concerns were unfounded, exaggerated, or, at a minimum, misdirected. At least in the contexts that have (...) been most studied, large negative impacts have not been found in the vast majority of people studied. What might explain the discrepancy between the original hypothesized outcomes and the growing impression that large negative effects appear to be few and far between? And if the original predictions of large negative psychosocial effects were simply wrong, is it time for ELSI researchers to move on? Should genetic testing be routinized, and would it be appropriate to relax or abandon the practice of engaging patients in a process of detailed informed consent before they receive genetic information? To confront those questions, we convened a conference entitled “Looking for the Psychosocial Impacts of Genomic Information” to review what is known about the negative impacts of genetic information on a variety of populations and in multiple medical and social contexts, to explore the implications of the findings, and to consider whether future research might benefit from different methods than have been used to date. (shrink)

Direct-to-consumer genetic testing has been available for several years now, with varying degrees of regulation across different countries. Despite a restrictive legal framework it is possible for consumers to order genetic tests from companies located in other countries. However, German laypeople’s awareness and perceptions of DTC GT services is still unexplored. We conducted seven focus groups with German laypeople to explore their perceptions of and attitudes towards commercial genetic testing and its ethical implications. Participants were (...) critical towards DTC GT. Criticism was directed at health-related, predictive testing, while lifestyle tests were accepted and even welcomed to some extent. Participants expressed strong reservations regarding commercial provision of genetic diagnostics and expressed a lack of trust in respective companies. They preferred non-commercial distribution within the public healthcare system. Participants also expressed high expectations of physicians’ abilities to interpret information obtained via DTC GT companies and provide counseling. Legal restrictions on commercial distribution of genetic tests were opposed, with participants arguing that it should be available to consumers. DTC GT companies are not perceived as trustworthy when compared to the public healthcare system and its professional ethical standards and practices. Laypeople rated general consumer autonomy higher than their own concerns, thus recommending against strong legal regulation. We conclude that medicine’s trustworthiness may be negatively affected if commercial provision is not visibly opposed by the medical professions, while DTC GT companies may gain in trustworthiness if they adapt to standards and practices upheld in medicine. (shrink)

The paper by Mand et al raises important questions about the predictive genetic testing of children. They focus on those claims made by professionals that are open to empirical enquiry and give too little weight to those claims that do not require empirical support. The authors remind us that some commentators oppose empirical enquiry because of the concern that gathering evidence of the consequences of such testing may itself be harmful or unethical. They respond by asserting that the (...) relevant research questions are ‘eminently testable’ but fail to discuss the challenges of such research, including the questions of timescale, consent or the nature of the data whose collection (they assert) would resolve the perceived difficulties with the genetic testing of children. They conclude that empirical research is required without resolving the weighty arguments against predictive testing of young children or explaining how the evidence they wish to collect could overcome the force of the arguments that favour caution. (shrink)

The idea that disability insurers would benefit if the use of predictive genetic testing expands may seem little short of obvious. If individuals with higher than species-typical genetic propensities for illness or disease are identified, and barred or discouraged from participating in disability insurance programs, is it not obvious that the amount that disability insurers pay out will decrease? Is there any reason to doubt that insurers thus would gain advantage by promoting genetic testing? Writers on (...) this subject typically have taken on faith that advantage goes to whoever knows most about the genetic characteristics of the individual seeking insurance. They therefore have assumed, without proving, that insurers’ interests lie with proliferating genetic information about insurance seekers.Consequently, from a perspective that gives priority to commercial interests, denying insurers the freedom to obtain genetic information about insurance seekers or holders appears obviously damaging and even unfair. On the other hand, from a perspective that gives priority to the interests of citizens who may use insurance, the greater use of and access to predictive genetic testing sets off ethical alarms. (shrink)

Predictive genetic testing is now routinely offered to asymptomatic adults at risk for genetic disease. However, testing of minors at risk for adult-onset conditions, where no treatment or preventive intervention exists, has evoked greater controversy and inspired a debate spanning two decades. This review aims to provide a detailed longitudinal analysis and concludes by examining the debate's current status and prospects for the future. Fifty-three relevant theoretical papers published between 1990 and December 2010 were identified, and interpretative (...) content analysis was employed to catalogue discrete arguments within these papers. Novel conclusions were drawn from this review. While the debate's first voices were raised in opposition of testing and their arguments have retained currency over many years, arguments in favour of testing, which appeared sporadically at first, have gained momentum more recently. Most arguments on both sides are testable empirical claims, so far untested, rather than abstract ethical or philosophical positions. The dispute, therein, lies not so much in whether minors should be permitted to access predictive genetic testing but whether these empirical claims on the relative benefits or harms of testing should be assessed. (shrink)

Individual autonomy is a concept highly appreciated in modern Western societies. Its significance is reflected by the central importance and broad use of the model of informed consent in all fields of medicine. In predictive genetic testing, individual autonomy gains particular importance, for what is in focus here is not so much a concrete medical treatment but rather options for taking preventive measures and the influence that the test results have on long-term lifestyle and preferences. Based on an (...) analysis of autonomy-related issues in predictive genetic diagnosis and genetic screening programmes, this contribution stresses the central relevance of a broad notion of autonomy for the discussion of ethical issues raised in connection with predictive genetic testing and genetic screening programmes. Only against the background of such a broad notion of autonomy, which stresses not only free and informed decision-making but also the relevance of long-term prospects for leading a self-determined life in familial and social contexts, can the manifold autonomy-related issues linked to predictive genetic testing be given adequate consideration. (shrink)

Genetic testing has historically been performed in the context of chronic disease and cancer diagnostics. The timelines for these tests are typically measured in days or weeks, rather than in minutes. As such, the concept that genetic information might be generated and then used to alter management in the acute setting has, thus far, not been feasible. However, recent advances in genetic technologies have the potential to allow genetic information to be generated significantly quicker. The (...) m.1555A>G genetic variant is present in one in 500 individuals and predisposes to profound hearing loss following the administration of aminoglycoside antibiotics. These antibiotics are used frequently in cases of neonatal sepsis and it is estimated that approximately 180 neonates in the UK are at risk of antibiotic induced hearing loss each year because of this genetic change. Knowledge of this variant in the acute setting would allow clinicians to prescribe alternative antibiotics. The Pharmacogenetics to Avoid Loss of Hearing study will implement a genetic point of care test (POCT) for the m.1555A>G variant within two major UK based neonatal intensive care units. This represents the first trial of a genetic POCT aimed at altering management in the acute setting. This round table discussion outlines the novel ethical issues faced in the development of this trial and the legal barriers to implementation. We ask five stakeholders to provide their opinions on this trial and their perspectives on the concept of genetic testing in the acute setting.Trial registration numberISRCTN-13704894. (shrink)

The debate on whether insurance companies should be allowed to use results of individuals’ genetic tests for underwriting purposes has been both lively and increasingly relevant over the past two decades. Yet there appears to be no widely agreed upon resolution regarding appropriate and effective regulation. There exists today a gamut of recommendations and actual practices addressing this phenomenon ranging from laissez-faire to voluntary industry moratoria to strict legal prohibition. One obvious reason for such a variance in (...) views and approaches is that there are competing bases for evaluating the outcomes of restricting insurers’ use of such information. For example, an outright ban on the use of genetic test results may seem the best method for protecting against unfair discrimination, while allowing their use may seem to be the best way to foster efficiency in the market for insurance. However, there is also a lack of understanding about how restricting the use of genetic information would play out in the market through the so-called phenomenon of adverse selection. Using economic analysis, we discuss how the type of adverse selection that occurs in insurance markets affects various arguments both in favour and against an outright ban on insurers’ use of genetic tests for pricing insurance. We review arguments based on moral principles . Practical concerns from the insurance industry based on actuarial principles and economic efficiency are also compared. Each perspective is shown to lead to a range of conflicting recommendations about how genetic information should be regulated and these conclusions depend critically on whether one conducts the analysis from the ex ante temporal perspective , from the interim temporal perspective , or from the ex post temporal perspective. (shrink)

The genetic testing and screening of children has been fraught with controversy since Robert Guthrie developed the bacterial inhibition assay to test for phenylketonuria and advocated for rapid uptake of universal newborn screening in the early 1960s. Today with fast and affordable mass screening of the whole genome on the horizon, the debate about when and in what scenarios children should undergo genetic testing and screening has gained renewed attention. United States professional guidelines — both the American College (...) of Medical Genetics /American Society of Human Genetics statement and the American Academy of Pediatrics Statement on the genetic testing of children and the new AAP and ACMG joint policy statement and technical report — as well as the old UK guidelines by the Working Part of the Clinical Genetics Society and the new United Kingdom guidelines by the British Society of Human Genetics all give the same answer: genetic testing and screening should only be done if it is in the child’s best interest. (shrink)

As a result of the increase in genetic testing and the fear of discrimination by insurance companies, employers, and society as a result of genetic testing, the disciplines of ethics, public health, and genetics have converged. Whether relatives of someone with a positive predictive genetic test should be notified of the results and risks is a matter urgently in need of debate. Such a debate must encompass the moral and ethical obligations of the diagnosing physician and (...) the patient. The decision to inform or not will vary depending on what moral theory is used. Utilising the utilitarian and libertarian theories produces different outcomes. The principles of justice and non-maleficence will also play an important role in the decision. (shrink)

The debate over the genetic testing of minors has developed into a major bioethical topic. Although several controversial questions remain unanswered, a degree of consensus has been reached regarding the policies on genetic testing of minors. Recently, several commentators have suggested that these policies are overly restrictive, too narrow in focus, and even in conflict with the limited empirical evidence that exists on this issue. We respond to these arguments in this paper, by first offering a clarification of (...) three key concepts—autonomy of the minor, future autonomy, and parental authority—which must be disentangled. We then respond to the arguments by noting the uncertainty of the value of predictive genetic information, and by assessing the psychosocial risks still involved in genetic testing of minors, which are also largely unknown. We conclude that the current consensus position is justified at this stage, in light of the predictions of harm resulting from genetic testing of minors that have not been adequately proved to be unwarranted. (shrink)

Predictive medicine presents opportunities to consider later life under conditions of illness, such as dementia. This paper examines how family caregivers (N = 27) assess the opportunity of prediction and early diagnosis of dementia for oneself based on their particular experience. Furthermore, it compares their attitudes with laypersons’ attitudes (N = 43) towards genetic testing of APOE. By this, we elaborate how much personal experience impacts anticipation and affects, but also moral attitudes towards predictive medicine. Differences in (...) our settings do not allow for direct comparison, so our analysis focuses on multiple similarities in the assessments of predictive (non-genetic vs. genetic) testing. Groups’ reasoning showed also differences influenced mainly by personal experience. Family caregivers addressed more responsibility towards family and had more hopes into medical treatments. To cope with the disease, they expressed expectations to start with medicine and care decisions as early as possible. Laypersons, however, stressed self-determination more and expressed worries about the influence of the pharmaceutical industry by referring to unnecessary medication and, implicitly, the medicalization of aging. (shrink)

Background: As genetics technology proceeds, practices of genetic testing have become more heterogeneous: many different types of tests are finding their way to the public in different settings and for a variety of purposes. This diversification is relevant to the discourse on ethical, legal and societal issues (ELSI) surrounding genetic testing, which must evolve to encompass these differences. One important development is the rise of personal genome testing on the basis of genetic profiling: the testing (...) of multiple genetic variants simultaneously for the prediction of common multifactorial diseases. Currently, an increasing number of companies are offering personal genome tests directly to consumers and are spurring ELSI-discussions, which stand in need of clarification. This paper presents a systematic approach to the ELSI-evaluation of personal genome testing for multifactorial diseases along the lines of its test characteristics.DiscussionThis paper addresses four test characteristics of personal genome testing: its being a non-targeted type of testing, its high analytical validity, low clinical validity and problematic clinical utility. These characteristics raise their own specific ELSI, for example: non-targeted genetic profiling poses serious problems for information provision and informed consent. Questions about the quantity and quality of the necessary information, as well as about moral responsibilities with regard to the provision of information are therefore becoming central themes within ELSI-discussions of personal genome testing. Further, the current low level of clinical validity of genetic profiles raises questions concerning societal risks and regulatory requirements, whereas simultaneously it causes traditional ELSI-issues of clinical genetics, such as psychological and health risks, discrimination, and stigmatization, to lose part of their relevance. Also, classic notions of clinical utility are challenged by the newer notion of 'personal utility.'SummaryConsideration of test characteristics is essential to any valuable discourse on the ELSI of personal genome testing for multifactorial diseases. Four key characteristics of the test - targeted/non-targeted testing, analytical validity, clinical validity and clinical utility - together determine the applicability and the relevance of ELSI to specific tests. The paper identifies and discusses four areas of interest for the ELSI-debate on personal genome testing: informational problems, risks, regulatory issues, and the notion of personal utility. (shrink)

This paper provides an empirical account of commercial genetic testing in China. Commercial predictive genetic testing has emerged and is developing rapidly in China, but there is no strict and effective governance. This raises a number of serious social and ethical issues as a consequence of the enormous potential market for such tests. The paper demonstrates that the commercialization of genetic testing and the lack of adequate regulation have created an environment in which dubious advertising (...) practices and misleading and unprofessional medical advice are commonplace. The consequences of these ethically problematic activities for the users of predictive tests are unknown. The paper concludes with a bioethical and social science perspective on the ethical governance issues raised by the dissemination and utilization of commercial genetic testing in Chinese society. (shrink)

Beauchamp and Childress’ definition of autonomous decision‐making includes the conditions of intentionality, understanding, and non‐control. In genetics, however, a relational conception of autonomy has been increasingly recognized. This article aims to empirically assess aspects of social influence in genetic testing decision‐making and to connect these with principlist and relational theories of autonomy. We interviewed 18 adult genetic counsellees without capacity issues considering predictive genetic testing for cancer predisposition for themselves and two counselling physicians in Switzerland. We (...) conducted a qualitative analysis, building on a grounded theory study about predictive genetic testing decision‐making. We found that some participants agreed to predictive genetic testing predominantly because relatives wanted them to do it, with some even acting contrary to their own convictions. Others, in contrast, based their decision on purely individualistic reasons but expressed difficulties in explaining their decision to their social environment. Healthcare professionals had a critical influence on decision‐making in many cases without being manipulative, as perceived by counsellees. Still, cases of coercion and social pressure occurred within social relationships. In conclusion, predictive genetic testing decision‐making includes relational and individualistic aspects, and both are compatible with autonomous decision‐making. While the principlist and relational notions of autonomy compete on a theoretical level, they are two sides of the same coin when used as analytical lenses for genetic testing decision‐making. Social acceptance of refusal of testing should be improved to mitigate social pressure. Individuals should be encouraged to decide for themselves how much their social environment influences their decision regarding predictive genetic testing. (shrink)

Over the past decade, genetic tests have become available for a wide variety of disorders. As a result we are able to predict, with some degree of certainty, whether or not an individual will develop such diseases as breast cancer, Huntington's disease, polycystic kidney disease, and familial adenomatous polyposis. The ability to predict disease poses several unique ethical considerations for clinical decisionmaking regarding the provision of genetic testing. Patients must be able to comprehend the complexities of (...) class='Hi'>genetic testing and the potential meaning of the results. Patients must consider the emotional, social, and economic consequences of revelations regarding their risk status. Also, obtaining information on risk status may have implications for persons other than the individual seeking genetic testing. (shrink)

A new analysis of the Best Interests Standard is given and applied to the controversy about testing children for untreatable, severe late-onset genetic diseases, such as Huntington's disease or Alzheimer's disease. A professional consensus recommends against such predictive testing, because it is not in children's best interest. Critics disagree. The Best Interests Standard can be a powerful way to resolve such disputes. This paper begins by analyzing its meaning into three necessary and jointly sufficient conditions showing it: is (...) an "umbrella" standard, used differently in different contexts, has objective and subjective features, is more than people's intuitions about how to rank potential benefits and risks in deciding for others but also includes evidence, established rights, duties and thresholds of acceptable care, and can have different professional, medical, moral and legal uses, as in this dispute. Using this standard, support is given for the professional consensus based on concerns about discrimination, analogies to adult choices, consistency with clinical judgments for adults, and desires to preserve of an open future for children. Support is also given for parents' legal authority to decide what genetic tests to do. (shrink)

“Privacy considerations no longer arise out of particular individual problems; rather, they express conflicts affecting everyone.”Along with the promise of assuaging the scourge of disease, the so-called genetic revolution unquestioningly imports a slew of thorny human rights issues that touch on matters such as dignity, disclosure, and the subject of this article – genetic testing and the social stigma potentially deriving therefrom.It is now rather evident that certain otherwise therapeutically promising forms of research can inadvertently involve social risks (...) exceeding the individual preoccupations of eclectic study participants. With that as the case, the following proposes to examine the peculiar stigma attached to genetic information and its potential human rights implications extending beyond the insurance and employment context. In so doing, it raises the intersection of interests between self-identified members of historically vulnerable groups and the group itself, which the law seems to take for granted in the genetics context. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:Kennedy Institute of Ethics Journal 12.1 (2002) 103-113 [Access article in PDF] Scope Note Update Searching Across Boundaries: National Information Resource on Ethics and Human Genetics* While indeed an historical moment, the announcement of the mapping of the human genome has been treated in the literature as a beginning—a new way to think about biology and the ways in which biological concepts are applied to medicine. Issues of both (...) Science and Nature magazines celebrated the event by establishing interdisciplinary websites where readers can access essays on aspects of genome mapping and directly link to databases to search for more information on the topics (IV. Genome Gateway 2001; The Human Genome 2001). Since 1994, the National Information Resource on Ethics and Human Genetics (NIREHG), a special project of the National Reference Center for Bioethics Literature (NRC), has been providing such an integrated information service on ethics and genetics. Designed to enable a wide range of users to go from annotated bibliographies (Scope Notes) and brief essays (called "enotes") to database searching, NIREHG fosters an interdisciplinary approach to research on ethics and genetics. Links are provided between and among Scope Notes and enotes to information maintained on the NIREHG site as well as to sources found throughout the Internet. In providing the following annotations added to NIREHG materials since 1997, the Kennedy Institute of Ethics Journal (in its online presence through Project Muse) becomes an additional forum for NIREHG links. "It is a rare and wonderful moment when success teaches us humility, and this, I argue, is precisely the moment at which we find ourselves at the end of the twentieth century" (IV. Keller 2000, p. 7). It is with both joy and humility that we celebrate the mapping of the human genome. [End Page 103] I. Genetic Testing Andrews, Lori B. Future Perfect: Confronting Decisions About Genetics. New York: Columbia University Press, 2001. 264 p.Noting the wide impact of genetic testing, Andrews discusses patient self concept, reproduction decisions, confidentiality, discriminations in health insurance and employment, the need for competent counseling, and the legal, ethical, and social regulations she deems important to help solve dilemmas arising from the tests and their ensuing ramifications. She describes three models, pointing out both advantages and problems: a medical model with physician gatekeepers, a public health model that could provide education as well some testing for those unable to afford tests, and a fundamental rights model that could give greater weight to individuals decisions about the use of health care services. The book has 85 pages of footnotes.American Society of Human Genetics. Social Issues Subcommittee on Familial Disclosure. Professional Disclosure of Familial Genetic Information. American Journal of Human Genetics 62 (2): 474-83, February 1998.The ASHG statement outlines points to consider: the general rule of confidentiality, exceptional circumstances that permit disclosure, and the ethical duty to inform patients about familial implications. Background discussion includes: ethical frameworks for disclosure of otherwise confidential information, the duty to warn under law, and international trends and positions.Boetzkes, Elisabeth. Genetic Knowledge and Third-Party Interests. Cambridge Quarterly of Healthcare Ethics 8 (4): 386-92, Summer 1999.Protection from the interests of insurers or prospective employers are discussed from the point of view of the ethical basis of the professional obligation to confidentiality as well as the right to privacy of those tested. However, the author supports family members, saying that "first-party resistance to disclosure may be overcome by weighty third-party claims."Chadwick, Ruth; Shickle, Darren; ten Have, Henk; and Wiesing, Urban, eds. The Ethics of Genetic Screening. Dordrecht, The Netherlands: Kluwer Academic Publishers, 1999. 255 p.Twenty-one chapters and 23 authors provide views of genetic testing/screening in different European countries and offer brief discussions of sociological perspectives, moral and philosophical issues, privacy, reconciling liberty and the common good, and questions raised in genetic testing of children.Clayton, Ellen Wright. Genetic Testing in Children. Journal of Medicine and Philosophy 22 (3): 233-51, June 1997.Clayton argues that there is room for... (shrink)

This analysis scrutinises the rhetorical strategies used by judges in wrongful life and wrongful birth actions as evidence for the assertion that the judicial reading of public policy in such cases has undergone a significant shift which is likely to accelerate as genetic knowledge grows and health care resources shrink. The implications of the predicted move towards increased genetic testing of prospective parents are traversed in relation to feminist analyses of the impact of genetics on reproductive technology. These (...) are viewed as forming a nexus with the current social constructions of disability and the contemporary cultural preoccupation with risk, in a context of the increasing commercial importance of genetic information. It is argued that women cannot make free and informed choices about genetic testing and pregnancy unless legal and social mechanisms which protect those choices are in place. (shrink)

Research into the genetic component of some complex behaviors often causes controversy, depending on the social meaning and significance of the behavior under study. Research into sexual orientation—simplistically referred to as “gay gene” research—is an example of research that provokes intense controversy. This research is worrisome for many reasons, including the fact that it has been used to harm lesbians and gay men. Many homosexual people have been forced to undergo “treatments” to change their sexual orientation. Others chose to (...) undergo them to escape discrimination and social disapprobation. But there are other reasons to worry about such research. The very motivation for seeking an “origin” of homosexuality reveals homophobia. Moreover, such research may lead to prenatal tests that claim to predict for homosexuality. For homosexual people who live in countries with no legal protections these dangers are particularly serious. (shrink)

In this essay, I indicate how social-science approaches can throw light on predictive genetic testing (PGT) in various societal contexts. In the first section, I discuss definitions of various forms of PGT, and point out their inherent ambiguity and inappropriateness when taken out of an ideal–typical context. In section two, I argue further that an ethics approach proceeding from the point of view of the abstract individual in a given society should be supplemented by an approach that regards (...) bioethics as inherently ambiguous, contested, changeable and context-dependent. In the last section, I place these bioethical discussions of PGT in the context of Asian communities. Here, a critical view of what constitutes a community and culture proves necessary to understand the role of bioethical debates and the empirical manifestations of PGT in Asian societies. A discussion of the concepts of family and kinship in relation to PGT indicates that any bioethical analysis has to take into account that bioethical values are not just reflections of a cultural community, but embody both bioethical ideals and prevalent political rhetoric which is exhibited, propagated and manipulated by individuals and collectives for a variety of purposes. I end by summarising the contributions that social science could make to the understanding of the bioethics of PGT. (shrink)

Modern medicine emphasizes treatment of the sick. It is often said that the widespread genetic testing soon to follow the completion of the Human Genome Project will usher in a new era of preventive medicine. Such changes require new ways of thinking, however. For example, there may be nothing clinically wrong with a healthy patient who requests genetic testing, even if the tests reveal disease genes. Since all individuals have genetic skeletons in their closets, it is (...) important to be careful not to confuse having disease genes with having the diseases that they cause. Unfortunately, many in the public have adopted a kind of genetic determinism that sees genes as destiny: for example, having the gene associated with colon cancer means they will develop colon cancer. Physicians tend to be more careful, yet even they are not immune to subtle versions of genetic determinism. One example of this is the uncritical categorization of certain diseases as “genetic”. In fact, an adequate concept of genetic disease is extremely difficult to come by. The simplest notion would require a 1:1 correspondence between a disease and its genes, but this is the exception rather than the rule. For example, cystic fibrosis (CF) is often put forward as a good example of a genetic disease, since it seems to result from mutations in a single gene, CFTR. Even in this case, however, the exact relationship between CFTR mutations and disease is not clear, as virtually every possible combination of sweat chloride test results, genetic test results, and symptoms has been observed.[1] If a patient presents with the classic symptoms of CF and is found to have a mutation in the CFTR gene, the physician might understandably infer that the mutation caused the disease. But if an asymptomatic patient is tested and it is discovered that he or she has a CFTR mutation, it is unclear what this means. The doctor might tell the patient the gene is abnormal and that he or she is likely to develop pulmonary problems, etc., but it’s not really known whether even this qualified prognosis is true.. (shrink)

The purpose of this study was to explore the views of members of the general public regarding ethical issues in adult predictive genetic testing. The literature pertaining to ethical issues regarding to adult predictive genetic testing is largely restricted to the views of ‘experts’ who have emphasized informed consent, patent issues, and insurance discrimination. Occasionally the views of patients who have undergone genetic counselling and testing have been elicited, adding psychosocial and family issues. However, the (...) general public has not had the opportunity to contribute. In order to explore theatre as a health policy research tool, 1,200 audience members attended the play ‘Sarah’s Daughters’ in seven Canadian cities, following which audience discussions were audiotaped. This study performed a secondary qualitative analysis of the data to identify the ethical issues of adult predictive genetic testing important to members of the general public. The identified issues were: (1) need for public education; (2) choice to undergo genetic counselling and testing; (3) access to genetic counselling and testing; and (4) obligations regarding the handling of genetic information. Audience members emphasized public education and access to information regarding potential choices, which was different from the emphasis on informed consent and other ethical issues prominent in the literature. Members of the general public emphasized ethical issues that were different than those identified by experts and patients. It is essential that members of the public be included in complex and controversial public policy decisions. (shrink)

An increasing number of genetic tests are available as an early spin-off from human genetic research. Beyond their application in the context of medical diagnosis there are other possible domains of use: e.g. in the testing of individuals asking for life or health insurance. It is claimed that individuals with an increased genetic risk might have to pay higher premiums or, worse, might be unable to obtain insurance coverage at all. The main question discussed in this (...) paper will be whether there is a right to health and/or life insurance coverage without prior genetic testing. The legal regulations of the use of genetic tests in the insurance system are various. While some countries in principle permit the use of (some) genetic tests for the calculation of actuarial risks, others banned genetic tests for non-medical uses; still other countries have not made any explicit provisions up to now. In the face of the attempted harmonisation of legal systems, as well as an increasing commercialisation of the international market for genetic tests, which neglects national borders, providing criteria for a moral evaluation of this issue appears to be a timely and urgent task. The view defended in this paper is that a right to health insurance without genetic testing is legitimised, insofar as health insurance belongs to the provision of elementary requirements, and insofar as the latter is everybody's moral right. On the other hand, it is implausible to postulate a right to life insurance without genetic testing – as long as life insurance is understood to be a part of one's provision of supplementary requirements. (shrink)

Despite its focus on consent the new Human Tissue Act 2004 allows for testing without consent where a relative could benefitIn recognition of the fact that genetic test results in people can have implications for close relatives, the new Human Tissue Act 2004 allows for a direction to access a person’s tissue so that testing can be carried out for the benefit of a relative, without the consent of that person. Clinical practice governed by common law and statute, before (...) this act, acknowledged that the disclosure, without consent, of the results of a genetic test, is ethically permissible in extreme situations for the benefit of a relative. New testing for the benefit of a relative without donor consent challenges the principle that informed or adequate consent should be obtained before a genetic test with considerable predictive powers is carried out. The debate surrounding the analogous situation of HIV testing concluded that in very rare cases, disclosure of an HIV result without consent may be justified, but testing without consent is a professional misconduct. This part of the legislation is controversial and deserves further debate. The Human Tissue Authority should take measures to limit the potential harm that can be caused by this provision.IntroductionAfter much debate, the new Human Tissue Act 2004 was passed by parliament in November 2004. Implementation of this act may be staggered, but it will be fully operational in May 2006. This act has several provisions that have implications in clinical practice for the use of stored tissue or samples containing cells. These provisions allow the Human Tissue Authority to permit access to human tissue for the purpose of obtaining scientific or medical information about a person for the benefit of another family member, without the consent of the donor . …. (shrink)

The ethical implications for psychological practice of genetic testing are largely unexplored. Predictive testing can have a significant impact on health and well-being, and increasing numbers of individuals with knowledge of their risk for various disorders are likely to present for psychotherapy. In addition, more people will struggle with the decision of whether to obtain information regarding their genetic material. Psychologists will need to have the appropriate knowledge and clinical skills to effectively counsel this population. This article (...) highlights the relevant ethical issues surrounding psychological treatment of individuals pursuing or considering undergoing genetic testing. These issues are extended to psychologists working in research, education, and policy domains. Recommendations for graduate training programs to facilitate current and future practitioner competence are also discussed. (shrink)

Predictive genetic testing may confront those affected with difficult life situations that they have not experienced before. These life situations may be interpreted as ‘absurd’. In this paper we present a case study of a predictive test situation, showing the perspective of a woman going through the process of deciding for or against taking the test, and struggling with feelings of alienation. To interpret her experiences, we refer to the concept of absurdity, developed by the French Philosopher (...) Albert Camus. Camus' writings on absurdity appear to resonate with patients' stories when they talk about their body and experiences of illness. In this paper we draw on Camus' philosophical essay ‘The Myth of Sisyphus’, and compare the absurd experiences of Sisyphus with the interviewee's story. This comparison opens up a field of ethical reflection. We demonstrate that Camus' concept of absurdity offers a new and promising approach to understanding the fragility of patients' situations, especially in the field of predictive testing. We show that people affected might find new meaning through narratives that help them to reconstruct the absurd without totally overcoming it. In conclusion, we will draw out some normative consequences of our narrative approach. (shrink)

The Human Genome Project is expected to increase dramatically our ability to predict the likelihood of genetic disease in an individual. It is important to reject the myth of genetic determinism—i.e., the simple-minded belief that such complex outcomes as heart disease, cancer, or autoimmune diseases are caused exclusively by particular genes. But it is equally important to acknowledge that genes may play a role in making a person more or less susceptible to such diseases. The ever-increasing prospect of (...) genetic prediction, spurred by the Human Genome Project, has implications for social practices such as insurance, in which predicting the risk of disease or death plays a crucial role. Concerned that improved genetic prediction might have unfortunate social consequences unless the impact of such predictions were anticipated, the U.S. Human Genome Project's Working Group on Ethical, Legal, and Social Issues established a Task Force on Genetic Information and Insurance in May 1991. -/- The Task Force met seven times over its two-year life. By the end of the first year, it had reached several tentative conclusions. Most importantly, we became convinced that the problem posed by increased genetic prediction in insurance was a genuine and important one. When we began, the danger seemed plausible but far from certain. The information we gathered in the first year persuaded us that genetic prediction of disease was in one sense already with us and, in another sense, likely to grow massively in the foreseeable future. (shrink)

The article [Title], written by [AuthorNames], was originally published electronically on the publisher’s internet portal on [date of OnlineFirst publication] without open access.

The aim of this study was to describe the experiences of undergoing a presymptomatic genetic test for the hereditary and fatal Huntington’s disease, using a case study approach. The study was based on 18 interviews with a young woman and her husband from the decision to undergo the test, to receiving the results and trying to adapt to them, which were analysed using a life history approach. The findings show that the process of undergoing a presymptomatic test involves several (...) closely connected ethical and medical questions, such as the reason for the test, the consequences of the test results and how health-care services can be developed to support people in this situation. (shrink)

The occurrence of sport-related concussions (SRCs) has emerged as a significant health concern in professional sports, with millions of concussions occurring worldwide each year. Current return-to-play (RTP) protocols after SRCs involve a multi-disciplinary approach with growing interest in genetic testing technology. Numerous studies have indicated that the gene Apolipoprotein E4 (APOE4) holds promise as a predictive factor for developing diseases after concussions and other traumatic brain injuries. Nevertheless, there is an ongoing and contentious debate surrounding the impact of (...) SRC genetic testing on the RTP decision, encompassing concerns about the potential adverse effects on individual athletes, coaches, and even the whole sport community at large not in a small degree due to incidental findings. Hence, the purpose of this article is to explore the clinical and ethical components of SRCs genetic testing and its potential integration into RTP protocols by utilizing the ACCE framework to assess the validity, utility, and ethical aspects of SRCs. (shrink)

The aim of this study was to describe the experiences of undergoing a presymptomatic genetic test for the hereditary and fatal Huntington’s disease, using a case study approach. The study was based on 18 interviews with a young woman and her husband from the decision to undergo the test, to receiving the results and trying to adapt to them, which were analysed using a life history approach. The findings show that the process of undergoing a presymptomatic test involves several (...) closely connected ethical and medical questions, such as the reason for the test, the consequences of the test results and how health-care services can be developed to support people in this situation. (shrink)

This clinical ethics case study examines whether to perform predictive genetic testing on a 5-year-old boy for Li-Fraumeni Syndrome (LFS), a serious cancer predisposition condition identified in his recently deceased father. The consulting ethics committee analyzed key tensions: balancing the mother's desire for testing to manage uncertainty against guidelines favoring delay until the child can participate in decision-making, weighing parental authority versus the child's future autonomy, and addressing professional disagreement between clinical and laboratory teams. While testing may be (...) justified since screening is already underway, the committee recommended thoroughly exploring the mother's reasoning and timing considerations while ensuring good communication and support for all parties involved. (shrink)

Singapore, a highly affluent island city-state located in Southeast Asia, has increasingly leveraged new assisted reproductive technologies (ART) to overcome its dismal fertility rates in recent years. A new frontier in ART is preimplantation genetic testing (PGT) for polygenic risk scores (PRS) to predict complex multifactorial traits in IVF (in vitro fertilisation) embryos, such as type 2 diabetes, cardiovascular diseases and various other characteristics like height, intelligence quotient (IQ), hair and eye colour. Unlike well-known safety risks with human genome (...) editing, there are negligible risks with PGT-P, because there are no man-made genetic modifications that can be transmitted to future generations. Nevertheless, the current efficacy of using PGT-P to select IVF embryos for either increased or decreased probability of developing specific polygenic traits is still far from certain. Hence, the regulatory safeguards proposed here will be based on the assumption that the efficacy of this new technology platform has already been validated. These include: (1) restricting the application of PGT-P only for prevention of clinically relevant polygenic disease traits, (2) securely blocking patients’ access to the raw genomic DNA sequencing data of their IVF embryos, (3) validating diagnosis of polygenic disease traits in the prospective parents/grandparents of IVF embryos, and restricting PGT-P only for preventing specifically diagnosed polygenic disease traits and (4) mandating rigorous and comprehensive genetic counselling for IVF patients considering PGT-P. There is an urgent and dire need to prevent abuse of the PGT-P technique, as well as protect the interests and welfare of patients if its clinical application is to be permitted in the country. (shrink)

The ArgumentPressures to lower health-care costs remain an important stimulus to eugenic approaches. Prenatal diagnosis followed by abortion of affected fetuses has replaced sterilization as the major eugenic technique. Voluntary acceptance has replaced coercion, but subtle pressures undermine personal autonomy. The failure of the old eugenics to accurately predict who will have affected offspring virtually disappears when prenatal diagnosis is used to predict Mendelian disorders. However, when prenatal diagnosis is used to detect inherited susceptibilities to adult-onset, common, complex disorders, considerable (...) uncertainty is inherent in the prediction. Intolerance and the resurgence of genetic determinism are current pressures for a eugenic approach. The increasing use of carrier screening and of prenatal diagnosis could itself generate intolerance for those who refuse the procedures. Genetic determinism deflects society from social action that would reduce the burden of disease far more than even the maximum use of eugenics. (shrink)

Preimplantation genetic testing for polygenic disorders (PGT-P) has been commercially available since 2019. PGT-P makes use of polygenic risk scores for conditions which are multifactorial and are significantly influenced by environmental and lifestyle factors. If current predictions are accurate, then absolute risk reductions range from about 0.02% to 10.1%, meaning that between 10 and 5,000 in vitro fertilization patients would need to be tested with PGT-P to prevent one offspring from becoming affected in the future, depending on the condition (...) and the number of embryos available. Survey and interview data reveal that patients and the public have largely favorable views regarding the use of PGT-P for disease prevention; however, clinicians and professional organizations have many reservations. The use of PGT-P raises multiple social and ethical concerns including the need for adequate counseling, the setting of realistic expectations, the application of distributive justice, the impact of environmental and social determinants of health, and the potential exacerbation of health inequities. Clinicians expressed significant concerns relating to the cost of PGT-P, the potential time-consuming counseling for reproductive endocrinologists and genetic counselors, the intentional creation of supernumerary embryos, and patients’ unrealistic expectations regarding “healthiest disease-free” embryos. Furthermore, current evidence lacks long-term outcome data and generalizability. Prior to offering PGT-P to patients, additional clinical validation studies are needed. Also, ethical and social considerations raised by PGT-P should be carefully delineated. Systemic practices to increase equitable access to unbiased genetic counseling and reproductive services would be desirable prior to the ethical implementation of PGT-P. (shrink)

This paper provides an empirical account of commercial genetic predisposition testing in mainland China, based on interviews with company mangers, regulators and clients, and literature research during fieldwork in mainland China from July to September 2006. This research demonstrates that the commercialization of genetic testing and the lack of adequate regulation have created an environment in which dubious advertising practices and misleading and unprofessional medical advice are commonplace. The consequences of these ethically problematic activities for the users of (...) predictive tests are, as yet, unknown. The paper concludes with a bioethical and social science perspective on the social and ethical issues raised by the dissemination and utilization of genetic testing in mainland China. (shrink)

American Academy of Pediatrics (AAP) and American College of Medical Genetics (ACMG) recently provided two recommendations about predictive genetic testing of children. The Clinical Sequencing Exploratory Research Consortium's Pediatrics Working Group compared these recommendations, focusing on operational and ethical issues specific to decision making for children. Content analysis of the statements addresses two issues: (1) how these recommendations characterize and analyze locus of decision making, as well as the risks and benefits of testing, and (2) whether the guidelines (...) conflict or come to different but compatible conclusions because they consider different testing scenarios. These statements differ in ethically significant ways. AAP/ACMG analyzes risks and benefits using best interests of the child and recommends that, absent ameliorative interventions available during childhood, clinicians should generally decline to order testing. Parents authorize focused tests. ACMG analyzes risks and benefits using the interests of the child and other family members and recommends that sequencing results be examined for additional variants that can lead to ameliorative interventions, regardless of age, which laboratories should report to clinicians who should contextualize the results. Parents must accept additional analysis. The ethical arguments in these statements appear to be in tension with each other. (shrink)