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 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)

As knowledge increases about the human genome,prenatal genetic testing will become cheaper,safer and more comprehensive. It is likelythat there will be a great deal of support formaking prenatal testing for a wide range ofgenetic disorders a routine part of antenatalcare. Such routine testing is necessarilycoercive in nature and does not involve thesame standard of consent as is required inother health care settings. This paper askswhether this level of coercion is ethicallyjustifiable in this case, or whether pregnantwomen (...) have a right to remain in ignorance ofthe genetic make-up of the fetus they arecarrying. While information gained by genetictesting may be useful for pregnant women whenmaking decisions about their pregnancy, it doesnot prevent harm to future children. It isargued that as this kind of testing providesinformation in the interests of the pregnantwomen and not in the interests of any futurechild, the same standards of consent that arenormally required for genetic testing should berequired in this instance. (shrink)

The paper by Susan M. Wolf and Jeffrey P. Kahn published in this issue of the Journal of Law, Medicine & Ethics notes that we are members of the Working Group on Genetic Testing in Disability Insurance and that the members of the Working Group do not necessarily subscribe to its recommendations. Although we agree with some of Wolf and Kahn's recommendations, we do not agree with recommendations 1, 3, 4, and 5 for individual disability insurance and recommendations (...) 1, 2, and 3 for group disability insurance. We use this paper to delineate our areas of disagreement, but we do not discuss areas such as employment law as they are not our areas of expertise.First, understanding our roles on the Working Group is important. As members, we provided technical expertise on disability insurance. Our input to the Working Group represents our individual opinions. (shrink)

Scientists, the medical profession, philosophers, social scientists, policy makers, and the public at large have been quick to embrace the accomplishments of genetic science. The enthusiasm for the new biotechnologies is not unrelated to their worthy goal. The belief that the new genetic technologies will help to decrease human suffering by improving the public’s health has been a significant influence in the acceptance of technologies such as genetic testing and screening. But accepting this end should not (...) blind us to the need for an evaluation of whether a particular means is adequate to achieve it. Lack of such evaluation notwithstanding, discussions of the ethical, legal, and social implications have tended to presuppose that the development and implementation of genetic testing will be an appropriate means to reduce human suffering in significant ways. I argue here that such an assumption is mistaken. In part this is the case because human biology is more complex than sometimes it is made to appear in these debates. But, the idea that human suffering resulting from disease can be reduced in significant ways with the use of genetic testing also ignores the social contexts in which these technologies are being developed and implemented. (shrink)

As members of the Working Group on Genetic Testing in Disability Insurance, the authors of this alternative opinion describe their areas of disagreement with some of the conclusions in the paper written by Susan M. Wolf and Jeffrey P. Kahn.

As a clinical geneticist I have been amazed at the speed of discovery over the past 20 years. The specific genetic causes of thousands of rare genetic conditions have been defined due to improvements in genomic sequencing, computing power and international collaborations to phenotype individuals with similar clinical features. This knowledge has resulted in an increased ability to make accurate molecular diagnoses which informs optimal treatment and clinical care, can remove the need for unnecessary investigations and informs reproductive (...) decision-making. However for any given individual, this genetic testing can often take weeks or months before the initial genetic diagnosis is made within a family. Occasionally genetic information is required more quickly to define a clinical action. For years point of care testing has been a mainstay of clinical care, for example, in confirming pregnancy or monitoring blood glucose. I had been keen to explore scenarios where a genetic POCT could be employed in clinical practice. To me, an obvious example appeared to be neonatal testing to avoid gentamicin-induced hearing loss. Here was a situation where we had known about the genetic …. (shrink)

ABSTRACT Research groups around the world are developing non‐invasive methods of prenatal genetic diagnosis, in which foetal cells are obtained by maternal blood test. Meanwhile, an increasing number of genetic tests are sold directly to the public. I extrapolate from these developments to consider a scenario in which PNGD self‐testing kits are sold directly to the public. Given the opposition to over‐the‐counter genetic tests and the continuing controversy surrounding PNGD, it is reasonable to expect objections to (...) PNGD self‐testing kits. I focus on one potential objection, that PNGD self‐testing kits would undermine the autonomy of potential test subjects. More specifically, that ‘direct to the public’ PNGD would fail to ensure that consumers exercise autonomy in the following PNGD‐related choices: • Should I use PNGD? • Based on the results of the PNGD test, should I continue or terminate my pregnancy? Under the current system, PNGD is provided by health care practitioners, who are required to counsel women both before and after the test. In contrast, ‘direct to the public’ PNGD would allow women to make their PNGD‐related decisions outside the context of the health care system. I compare these two decision‐making contexts, arguing that the health care system is not unequivocally better at promoting the autonomy of potential test subjects. Therefore the promotion of autonomy does not constitute a strong argument against such test kits. Other objections may be more persuasive, so I do not offer an overall assessment of the acceptability of ‘direct to the public’ PNGD. (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)

Arguments against the possible use of genetic test results in private health and life insurance predominantly refer to the problem of certain gene carriers failing to obtain affordable insurance cover. However, some moral intuitions speaking against this practice seem to be more fundamental than mere concerns about adverse distributional effects. In their perspective, the central ethical problem is not that some people might fail to get insurance cover because of their ‘bad genes’, but rather that some people would manage (...) to get insurance cover because of their ‘good genes’. This paper tries to highlight the ethical background of these intuitions. Their guiding idea appears to be that, by pointing to his favourable test results, a customer might make an attempt to ‘sell his body’. The rationale of this concept is developed and its applicability to the case at issue is critically investigated. The aim is to clarify an essential objection against the use of genetic information in private insurance which has not yet been openly addressed in the academic debate of the topic. (shrink)

Ongoing research in the fields of genetics and biotechnology hold the promise of improved diagnosis and treatment of genetic diseases, and potentially the development of individually tailored pharmaceuticals and gene therapies. Difficulty, however, arises in determining how these services are to be evaluated and integrated equitably into public health care systems such as Canada's. The current context is one of increasing fiscal restraint on the part of governments, limited financial resources being dedicated to health care, and rising costs for (...) new health care services and technologies. This has led to increasing public debate in the last few years about how to reform public health care, and whether we should prohibit, permit or perhaps even encourage private purchase of health care services. ;In Canada, some of these concerns have crystallized around the issue of gene patents and commercial genetic testing, in particular as illustrated by the case of Myriad Genetics' patented BRACAnalysis test for hereditary breast and ovarian cancer. While most Canadians who currently access genetic services do so through the public health care system, for those with the means, private purchase is becoming an option. This situation raises serious concerns---about justice in access to health care; about continued access to safe and reliable genetic testing supported by unbiased patient information; and about the broader effects of commercialization for ongoing research and the Canadian public health care system. Commercial genetic testing presents a challenge to health care professionals, policy analysts, and academics concerned with the social, ethical and policy implications of new genetic technologies. Using the Myriad case as an exemplar, tools from moral philosophy, the social sciences, and health policy and law will be brought to bear on the larger issues of how as a society we should regulate commercial research and product development, and more coherently decide which services to cover under public health insurance and which to leave to private purchase. Generally, the thesis is concerned with the question of "how best to bring capital, morality, and knowledge into a productive and ethical relationship". (shrink)

Predictive genetic testing poses fundamental questions for disability insurance, a crucial resource funding basic needs when disability prevents income from work. This article, from an NIH-funded project, presents the first indepth analysis of the challenging issues: Should disability insurers be permitted to consider genetics and exclude predicted disability? May disabilities with a recognized genetic basis be excluded from coverage as pre-existing conditions? How can we assure that private insurers writing individual and group policies, employers, and public insurers (...) deal competently and appropriately with genetic testing? (shrink)

Genetic testing poses fundamental questions for insurance. Testing can predict a low probability of future illness and disability, which can help promote the insurability of individuals with a family history of genetic risk, but it can also invite insurers to reject applicants, increase premiums, exclude people with certain illnesses and disabilities, and otherwise adjust the underwriting processes for individuals with certain genotypes. In the workplace, these issues may cause employers who offer or pay for insurance to (...) alter their hiring behavior, either by selecting those with desirable genetic makeup or rejecting, dismissing, or reassigning those who carry an unwanted risk, ultimately threatening employability and the safety net that insurance is intended to provide. (shrink)

Nagle, Cormac Life, health and income insurance are very important in peoples' lives. For this reason, insurance companies should not use genetic testing to restrict access to these goods.

Background: Preimplantation genetic testing is used in In Vitro Fertilization to identify genetic abnormalities in embryos. Genetically defective embryos are not transferred to the uterus, resulting in a higher percentage of healthy babies born. Aim: to study the ethical problems of using preimplantation genetic testing in Orthodox Christian discourse. Materials and methods: An analysis of the provisions of Orthodox ethics, expressed in the church resolutions of the Russian Orthodox Church and the general church teaching on (...) morality, was carried out in the context of their application for the biotic analysis of preimplantation genetic testing. Results: Despite the fact that PGT can have positive implications for the choice of the mode of delivery later on and for the earliest possible initiation of intrauterine treatment, this practice meets with certain ethical objections in Orthodox Christian discourse. Identified genetic abnormalities of embryos in PGT encourage women to refuse to transfer the "diseased" embryo, leading ultimately to its death. The absence of intrauterine interaction between a mother and an embryo makes such a choice easily feasible. Given that Orthodox Christianity affirms the beginning of human life from the moment of conception, refusing to become pregnant with a "sick embryo" would be tantamount to its murder. In addition, among the ethical problems of PGT is the possibility of the use thereof for the embryo selection according to sex or other chosen characteristics, which also belongs to immoral actions in Orthodox Christianity. Conclusion: Thus, the possibility for Orthodox couples to participate in assisted reproductive technology must exclude the use of pre-implantation genetic testing, which is ethically unacceptable within Orthodox Christianity. The couple starting IVF should be ready to give birth and bring up such a child, who will be the result of the fertilization in vitro. (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)

ZusammenfassungDie Zulässigkeit genetischer Untersuchungen an Arbeitnehmern wird in Deutschland neu diskutiert, nachdem einer hessischen Lehrerin die Verbeamtung auf Probe zunächst verweigert wurde, weil ihr Vater an der Huntington-Krankheit leidet. Es soll untersucht werden, ob eine gesetzliche Regelung genetischer Untersuchungen in der Arbeitsmedizin wünschenswert ist und welche ethischen Maßstäbe dabei zu berücksichtigen wären. Gendiagnostische Untersuchungsverfahren im engeren Sinn finden noch keine breite Anwendung in der Arbeits- und Betriebsmedizin. Die Nutzung genetischer Informationen gehört aber auch hier zum Standard. Damit sind verschiedene ethische (...) Konflikte verbunden, die insbesondere die Bereiche Autonomie und Diskriminierung betreffen. Gesetzliche Regelungen sollten sich daher nicht an der jeweiligen gendiagnostischen Technologie orientieren, sondern an der prognostisch-prädiktiven Qualität genetischen Wissens. Das Machtungleichgewicht am Arbeitsplatz und die immanenten Interessenkonflikte machen gesetzliche Regelungen erforderlich, die angesichts der zunehmenden Verfügbarkeit prädiktiver medizinischer Informationen Personenrechte schützen und einen fairen Interessenausgleich fördern. (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)

Scientists, the medical profession, philosophers, social scientists, policy makers, and the public at large have been quick to embrace the accomplishments of genetic science. The enthusiasm for the new biotechnologies is not unrelated to their worthy goal. The belief that the new genetic technologies will help to decrease human suffering by improving the public’s health has been a significant influence in the acceptance of technologies such as genetic testing and screening. But accepting this end should not (...) blind us to the need for an evaluation of whether a particular means is adequate to achieve it. Lack of such evaluation notwithstanding, discussions of the ethical, legal, and social implications have tended to presuppose that the development and implementation of genetic testing will be an appropriate means to reduce human suffering in significant ways. I argue here that such an assumption is mistaken. In part this is the case because human biology is more complex than sometimes it is made to appear in these debates. But, the idea that human suffering resulting from disease can be reduced in significant ways with the use of genetic testing also ignores the social contexts in which these technologies are being developed and implemented. (shrink)

I. Introductory Comments   The Human Genome Project will be completed within 2 years, and “targeted†sequence data from the most promising sections of the genome will be released even sooner. Based on this wealth of information, at least 400 new genetic tests will become available within the next decade. The blending of microelectronic and genetic technology will make the “genetic report card†an affordable and routine part of medical care. The implicit assumption driving much of this (...) push for genetic testing is that information is inherently good and patients should have the right to any information about themselves they desire. However, the informational content of genetic tests for most conditions is not known and may in fact be very low. Under such circumstances, it seems prudent to treat access to genetic testing the same way we currently treat access to other new medical procedures and drugs – that is, access is afforded only 1) in the context of a clinical trial or  2) after the safety and effectiveness of the treatment has been established. The fact is, genetic “information†of uncertain quality is not innocous. II. The Difficulty with Genetic Testing   Everyone is familiar with one difficulty posed by genetic testing: the possibility that a test may show either a “false positive†or a “false negativeâ€.  This is the problem of the analytic accuracy of testing. However, as our analytic techniques become more sophisticated, the incidence of such errors will steadily decline. If nothing else, administration of multiple tests is often (though not always) a simple and effective way of boosting analytic accuracy.   There is, however, a much more serious accuracy problem which has been largely overlooked in the literature.. (shrink)

As one looks into the crystal ball concerning the future of medicine, what might be seen? One vision is of genetic testing being carried out by medical technicians and then, as a result of this analysis, patients will be given a diagnosis of what is wrong with them. Next, they will be given a list of courses of action based on the tests. Once the list is presented to the patient, then she will choose her treatment. Then a (...) clinician will inoculate her or otherwise administer the genetic therapy. The entire process might go forward without the intervention of a physician! (shrink)

This paper attempts to explore a number of conceptual issues surrounding genetic testing. It looks at the meaning of the terms, genetic information and genetic testing in relation to the definition set out by the Advisory Committee on Genetic Testing in the UK, and by the Task Force on Genetic Testing in the USA. It argues that the special arrangements that may be required for the regulation of genetic tests should (...) not be determined by reference to the nature or technology of the test, but by considering those morally relevant features that justify regulation. Failure to do so will lead to the regulation of genetic tests that need not be regulated, and would fail to cover other tests which should be regulated. The paper also argues that there is little in the nature of the properties of gene tests, using DNA or chromosomes, that in itself justifies a special approach. (shrink)

What is the future of genetic testing during pregnancy likely to look like? Given that the patterns of use of genetic testing in neonatology tend to precede, and thus predict, patterns of prenatal...

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)

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)

The prelims comprise: Introduction: Informed Consent and the Doctor‐Patient Relationship The Role of Children in the Informed Consent Process Newborn Screening: Mandatory Screening versus Informed Consent Testing Young Children for Early‐onset Genetic Conditions Testing Children for Late‐onset Genetic Conditions Testing Children for Carrier Status Conclusion Acknowledgments.

This article considers the future of genetic testing and disiblity insurance, and explores the potential for discrimination when using genetic information.

One of the central arguments given to resist testing currently healthy, asymptomatic children for adult-onset diseases is that they may be psychologically harmed by the knowledge gained from such tests. In this discussion I examine two of the most serious arguments: children who are tested may face limited futures, and that testing may result in damage to the child’s self esteem . I claim that these arguments do not stand up to critical evaluation. In conclusion, whilst I do (...) not suggest that all at-risk children should be tested for adult-onset diseases we ought to listen carefully to some parental requests for such testing because the putative psychological harms may not be as significant or likely as initially thought. This is because parents generally have the best interests of their children at heart and if they are properly supported and educated about predictive genetic testing and the possible consequences, then the risk of psychological harms occurring may be ameliorated. (shrink)

Prenatal genetic testing is becoming available for an increasingly broad set of diseases, and it is only a matter of time before parents can choose to test for hundreds, if not thousands, of genetic conditions in their fetuses. Should access to certain kinds of fetal genetic information be limited, and if so, on what basis? We evaluate a range of considerations including reproductive autonomy, parental rights, disability rights, and the rights and interests of the fetus as (...) a potential future child. We conclude that parents should be able to access information that could be useful during pregnancy, but that testing for non-medical information should be limited. Next, we argue that the government lacks a compelling state interest in regulating prenatal genetic testing and propose that regulation should occur through medical professional organizations. Finally, we present a framework for determining what testing physicians should recommend, offer neutrally, or not offer at all. (shrink)

The physician-patient relationship has changed over the last several decades, requiring a systematic reevaluation of the competing demands of patients, physicians, and families. In the era of genetic testing, using a model of patient care known as the family covenant may prove effective in accounting for these demands. The family covenant articulates the roles of the physician, patient, and the family prior to genetic testing, as the participants consensually define them. The initial agreement defines the boundaries (...) of autonomy and benefit for all participating family members. The physician may then serve as a facilitator in the relationship, working with all parties in resolving potential conflicts regarding genetic information. The family covenant promotes a fuller discussion of the competing ethical claims that may come to bear after genetic test results are received. (shrink)

Informed by a search of the literature about the usage of genetic testing information (GTI) by insurance companies, this paper presents a practical ethical analysis of several distinct public policy options that might be used to govern or constrain GTI usage by insurance providers. As medical research advances and the extension to the Human Genome Project (2016, https://en.wikipedia.org/wiki/human_genome_project_-_write) moves to its fullness over the next decade, such research efforts will allow the full synthesis of human DNA to be (...) connected to predictive health dispositions. As testing costs fall, there will be ever more pressure for citizens to disclose GTI. Genetic testing information is integral to future medical care because it can be used to better assess individually tailored medical therapies as well as to allow a more informed risk analysis by the insurance industry, which in some countries such as the USA underwrites a majority of citizen medical expenses. As discussed in this examination, the revelation of people’s uniquely personal GTI to insurers has enormous societal implications. The major contribution of the paper is to offer policy makers and concerned citizens a nuanced articulation of the basic options to regulate GTI, with a special consideration for ethical fairness and equity. As genetic-based medicine blossoms and pressures to reduce healthcare costs increase, there will be an ever greater impetus for countries to revisit their genetic testing policies. Organizations and policy makers striving to create GTI oversights perceived to be both “fair and effective” need to be aware of the ethical perspectives discussed in this paper. (shrink)

Background: Genetic tests for schizophrenia may introduce risks and benefits. Among young adults at clinical high risk for psychosis, little is known about their concerns and how they assess potential risks. Methods: We conducted semistructured interviews with 15 young adults at clinical high risk for psychosis to ask about their concerns. Results: Participants expressed concerns about test reliability, data interpretation, stigma, psychological harm, family planning, and privacy. Participants’ responses showed some departure from the ethics literature insofar as participants were (...) primarily interested in reporting their results to people to whom they felt emotionally close, and expressed little consideration of biological closeness. Additionally, if tests showed an increased genetic risk for schizophrenia, four clinical high-risk persons felt obligated to tell an employer and another three would “maybe” tell an employer, even in the absence of clinical symptoms. Conclusions: These findings suggest opportunities for clinicians and genetic counselors to intervene with education and support. (shrink)

In this article, the author focuses on the allocation of decision-making authority between parents and physicians. She argues that parents should have substantial room to decide whether genetic testing is good for their child and that they may appropriately consider interests in addition to those of their child in making such choices. A physician, however, may refuse to act pursuant to parental views about testing, when in the physician's view, the parents' choices would pose a risk of (...) significant harm to the child. The balance of control between parents and physicians is illustrated by discussion of a series of case vignettes. Refusal to perform requested testing is most often warranted for testing for carrier status and for genetic predisposition to late onset disease. The author concludes her analysis by discussing why it is appropriate to give increasing deference to the views of the child as the child grows older. (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)

The physician-patient relationship has changed over the last several decades, requiring a systematic reevaluation of the competing demands of patients, physicians, and families. In the era of genetic testing, using a model of patient care known as the family covenant may prove effective in accounting for these demands. The family covenant articulates the roles of the physician, patient, and the family prior to genetic testing, as the participants consensually define them. The initial agreement defines the boundaries (...) of autonomy and benefit for all participating family members. The physician may then serve as a facilitator in the relationship, working with all parties in resolving potential conflicts regarding genetic information. The family covenant promotes a fuller discussion of the competing ethical claims that may come to bear after genetic test results are received. (shrink)

Background Genetic testing is moving from targeted investigations of monogenetic diseases to broader testing that may provide more information. For example, recent health economic studies of genetic testing for an increased risk of breast cancer suggest that it is associated with higher cost-effectiveness to screen for pathogenic variants in a seven gene panel rather than the usual two gene test for variants in BRCA1 and BRCA2. However, irrespective of the extent to which the screening of (...) the panel is cost-effective, there may be ethical reasons to not screen for pathogenic variants in a panel, or to revise the way in which testing and disclosing of results are carried out. Main text In this paper we discuss the ethical aspects of genetic testing for an increased risk of breast cancer with a special focus on the ethical differences between screening for pathogenic variants in BRCA1/2 and a seven gene panel. The paper identifies that the panel increases the number of secondary findings as well as the number of variants of uncertain significance as two specific issues that call for ethical reflection. Conclusions We conclude that while the problem of handling secondary findings should not be overstated with regard to the panel, the fact that the panel also generate more variants of uncertain significance, give rise to a more complex set of problems that relate to the value of health as well as the value of autonomy. Therefore, it is insufficient to claim that the seven gene panel is preferable by only referring to the higher cost effectiveness of the panel. (shrink)

Over the next 15 years, the government-funded human genome project will map and sequence each of the human cell’s estimated 100,000 genes. The project’s first fruits will be a vast quantity of information about genetic disease. This information will contribute to the design of quicker, cheaper and more accurate tests for identifying deleterious genes in individuals. Because genetic conditions are often regarded as “immutable, heritable taints that intrinsically implicate the bearer’s identity,” overly-deterministic interpretations of genetic information can (...) readily distort genetic risk and become enshrined in institutional policies of social isolation and discrimination. (shrink)

Over the next 15 years, the government-funded human genome project will map and sequence each of the human cell’s estimated 100,000 genes. The project’s first fruits will be a vast quantity of information about genetic disease. This information will contribute to the design of quicker, cheaper and more accurate tests for identifying deleterious genes in individuals. Because genetic conditions are often regarded as “immutable, heritable taints that intrinsically implicate the bearer’s identity,” overly-deterministic interpretations of genetic information can (...) readily distort genetic risk and become enshrined in institutional policies of social isolation and discrimination. (shrink)