: There is a general consensus in the medical and medical ethics communities against predictive genetic testing of children for late onset conditions, but minimal consideration is given to predictive testing of asymptomatic children for disorders that present later in childhood when presymptomatic treatment cannot influence the course of the disease. In this paper, I examine the question of whether it is ethical to perform predictive testing and screening of newborns and young children for conditions (...) that present later in childhood. I consider the risks and benefits of (1) predictive testing of children from high-risk families; (2) predictive population screening for conditions that are untreatable; and (3) predictive population screening for conditions in which the efficacy of presymptomatic treatment is equivocal. I conclude in favor of parental discretion for predictive genetic testing, but against state-sponsored predictive screening for conditions that do not fulfill public health screening criteria. (shrink)

Non-therapeutic genetic testing in childhood presents a “myriad of ethical questions”; questions which are discussed and resolved in professional policy and position statements. In this paper we consider an underdiscussed but strongly influential feature of policy-making, the role of selective case and exemplar in the production of general recommendations. Our analysis, in the tradition of rhetoric and argumentation, examines the predominate use of three particular disease exemplar to argue for or against particular genetic tests. We discuss (...) the influence these choices have on the type and strength of subsequent recommendations. We argue that there are lessons to be drawn about how genetic diseases are conceptualised and we caution against the geneticisation of medical policy making. (shrink)

Objectives: Although no genetic tests for violent behaviour are currently available, research is ongoing to isolate genes related to a propensity for violence. We explored the attitudes of parents and healthcare professionals toward behavioural genetic testing for violence.Design: The attitudes of healthcare professionals and the lay public about genetic testing of children were elicited for a range of conditions through interviews with healthcare professionals and focus groups with parents. All participants were informed that behavioural (...) class='Hi'>genetic testing was the only hypothetical genetic test in our script and it was presented as the last condition.Participants: The healthcare professionals included both genetic professionals and paediatricians. Focus group participants were recruited through various community institutions in the southside of Chicago and nearby suburbs.Results: The healthcare professionals tended to medicalise behavioural genetics, and were opposed to testing unless treatment was available. They were also uniformly concerned about the potential harms of this information, including unintentional adverse effects from environmental changes. In contrast, parents wanted genetic testing for behavioural traits to be available even in the absence of proved medical treatments. Not all parents wanted to test their own children, and some parents were concerned about self-fulfilling prophecies. Some parents, however, felt the information was important for their understanding, and could be used to support environmental changes.Conclusions: While healthcare professionals medicalised behavioural genetics, parents focused on environmental causes and influences. Consequently, healthcare professionals do not want to offer testing if there is no clear treatment, while parents may want this information to shape environmental influences. (shrink)

This chapter contains sections titled: Information Management: Confidentiality, Autonomy and Non‐Directiveness Predictive Genetic Testing Childhood Genetic Testing Genetic Screening Informed Consent to Screening Newborn Screening Carrier Screening Prenatal Screening Susceptibility Screening Further Information Management Goals of Genetic Screening: Public Health vs Individual Choice Conclusion References Further reading.

Genetic testing technology has brought the ability to predict the onset of diseases many years before symptoms appear and the use of such predictive testing is now widespread. The medical fraternity has met the application of this practice to children with caution. The justification for their predominantly prohibitive stance has revolved around the lack of a readily identifiable medical benefit in the face of potential psychological harms to the child. We argue that predictive testing can have (...) important psychosocial benefits and that the interests of the child have been construed too narrowly. Proponents of a prohibitive stance also argue that testing in childhood breaches the child's future right to make the same decision as an autonomous adult and to maintain this information as confidential. We argue that predictive genetic testing of children is not necessarily a violation of the child's future autonomy. Indeed, in some cases, such testing may facilitate the development of autonomy in the maturing child. We argue that parents are generally best placed to judge what is in their own child's overall interests, and that a parental request for testing after appropriate genetic counselling should be respected unless there is clear evidence that the child will be harmed in an overall sense as a result of testing. (shrink)

The recent boom of direct-to-consumer (DTC) genetic tests, aimed at measuring children’s athletic potential, is the latest wave in the ‘pre-professionalization’ of children that has characterized, especially but not exclusively, the USA in the last 15 years or so. In this paper, I analyse the use of DTC genetic tests, sometimes coupled with more traditional methods of ‘talent scouting’, to assess a child’s predisposition to athletic performance. I first discuss the scientific evidence at the basis of these tests, (...) and the parental decision in terms of education, and of investing in the children’s future, taken on the basis of the results of the tests. I then discuss how these parental practices impact on the children’s right to an open future, and on their developing sense of autonomy. I also consider the meaning and role of sports in childhood, and conclude that the use of DTC genetic tests to measure children’s athletic potential should be seen as a ‘wake up’ call for other problematic parental attitudes aimed at scouting and developing children’s talent. (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)

Attention-deficit/hyperactivity disorder is a neurodevelopmental disorder with a childhood prevalence of 5%. In about two-thirds of the cases, ADHD symptoms persist into adulthood and often cause significant functional impairment. Based on the results of family and twin studies, the estimated heritability of ADHD approximates 80%, suggests a significant genetic component in the etiological background of the disorder; however, the potential genetic effects on disease risk, symptom severity, and persistence are unclear. This article provides a brief review of (...) the genome-wide and candidate gene association studies with a focus on the clinical aspects, summarizing findings of ADHD disease risk, ADHD core symptoms as dimensional traits, and other traits frequently associated with ADHD, which may contribute to the susceptibility to other comorbid psychiatric disorders. Furthermore, neuropsychological impairment and measures from neuroimaging and electrophysiological paradigms, emerging as potential biomarkers, also provide a prominent target for molecular genetic studies, since they lie in the pathway from genes to behavior; therefore, they can contribute to the understanding of the underlying neurobiological mechanisms and the interindividual heterogeneity of clinical symptoms. Beyond the aforementioned aspects, throughout the review, we also give a brief summary of the genetic results, including polygenic risk scores that can potentially predict individual response to different treatment options and may offer a possibility for personalized treatment for the therapy of ADHD in the future. (shrink)

Non-invasive prenatal testing is an emerging form of prenatal genetic testing that provides information about the genetic constitution of a foetus without the risk of pregnancy loss as a direct result of the test procedure. As with other prenatal tests, information from NIPT can help to make a decision about termination of pregnancy, plan contingencies for birth or prepare parents to raise a child with a genetic condition. NIPT can also be used by women and (...) couples to test purely ‘for information’. Here, no particular action is envisaged following the test; it is motivated entirely by an interest in the result. The fact that NIPT can be performed without posing a risk to the pregnancy could give rise to an increase in such requests. In this paper, we examine the ethical aspects of using NIPT ‘purely for information’, including the competing interests of the prospective parents and the future child, and the acceptability of testing for ‘frivolous’ reasons. Drawing on several clinical scenarios, we claim that arguments about testing children for genetic conditions are relevant to this debate. In addition, we raise ethical concerns over the potential for objectification of the child. We conclude that, in most cases, using NIPT to test for adult-onset conditions, carrier status or non-serious traits presenting in childhood would be unacceptable. (shrink)

I attended the NSIGHT Ethics and Policy Advisory Board's meeting on sequencing newborns as a research associate in a joint apprenticeship between the University of California, San Francisco, Institute for Human Genetics and the university's Program in Bioethics. But I also came to the meeting with a deeply personal perspective: I had spent nearly my entire childhood in search of a diagnosis and therefore was eager to hear the board's discussion on how to ethically include genomic sequencing early in (...) life. Genomic sequencing in the newborn period could have helped me avoid my diagnostic odyssey by revealing the cause of my condition shortly after birth. (shrink)

The clinical relevance of whole-exome sequencing is unquestionable. In the prenatal setting, the standard testing process of reflexing from karyotype to microarray to single-gene disorders may take several weeks, leaving a family in prolonged turmoil and often without answers in time to make a decision about the pregnancy. WES provides a powerful amount of data more quickly and with a higher yield of diagnostic results, allowing a timelier plan for medical management and decision-making. However, while results that pertain specifically (...) to the testing indication can be isolated, the potential for incidental findings or results that are unrelated to the original testing indication is significant. In 2013, ACMG published recommendations for reporting incidental or secondary findings, providing a list of 57 clinically actionable genes for which reporting should be obligatory. These recommendations were updated in 2015 to include the option to opt out of receiving all secondary findings. The list includes childhood-onset conditions, for which medical management would be immediately impacted. However, the list also includes adult-onset conditions such as hereditary breast and ovarian cancer and Lynch syndrome. Historically, decisions regarding genetic testing for these conditions have been left up to the individual until they reach the age of consent. While the 2015 recommendations are an improvement over the 2013 recommendations insofar as they allow an option to opt out of receiving secondary findings, the recommendations continue to have potentially troubling ethical consequences. (shrink)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

Background: Informed consent for genetic tests is a well-established practice. It should be based on good quality information and in keeping with the patient’s values. Existing informed consent assessment tools assess knowledge and values. Nevertheless, there is no consensus on what specific elements need to be discussed or considered in the consent process for genetic tests.Methods: We performed a systematic review to identify all factors involved in the decision-making and consent process about genetic testing, from the (...) perspective of patients. Through public databases, we identified studies reporting factors that influence the decision to accept or decline genetic testing. Studies were included if they reported the perspective of patients or at-risk individuals. All articles were thematically coded.Results: 1989 articles were reviewed: 70 met inclusion criteria and 12 additional articles were identified through the references of included studies. Coding of the 82 articles led to the identification of 45 factors involved in decision-making and consent, which were initially divided into three domains: in favor of, against or with an undetermined influence on genetic testing. Each factor was also divided into three subdomains relating to the informed choice concept: knowledge, values or other. The factors in the “other” subdomain were all related to the context of testing (e.g. timing, cost, influence of family members, etc), and were present in all three domains.Conclusions: We describe the network of factors contributing to decision-making and consent process and identify the context of genetic testing as a third component to influence this process. Future studies should consider the evaluation of contextual factors as an important and relevant component of the consent and decision-making process about genetic tests. Based on these results, we plan to develop and test a more comprehensive tool to assess informed consent for genetic testing. (shrink)

Newborn screening for genetic diseases has developed rapidly in Western countries. These biopolitics raise the question of birth as a sociological “knot” insofar as it is the threshold between the child and the fetus. The question therefore addressed in this text, based on a field study of newborn screening for cystic fibrosis in France, is that of the link between the quest for good health and the elimination of poor health. Do they reinforce each other or, on the contrary, (...) are they contradictory? I analyze the positions of both mothers of screened children and clinicians regarding the following three points: prenatal diagnosis to preclude sets of sick siblings, identification of heterozygous individuals, and generalized prenatal screening. This study shows how increasingly attentive patient care and an increasingly demanding approach to prenatal diagnosis reinforce one another. It also analyzes the role of taking action early on and evaluating the lives of sick or disabled people in this process. In conclusion, I engage a more general discussion about what I suggest calling a “quality life.”. (shrink)

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)

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)

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)

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...

Background Autism self-advocates’ views regarding genetic tests for autism are important, but critical questions about their perspectives arise.Methods We interviewed 11 autism self-advocates, recruited through autism self-advocacy websites, for 1 h each.Results Interviewees viewed genetic testing and its potential pros and cons through the lens of their own indiviudal perceived challenges, needs and struggles, especially concerning stigma and discrimination, lack of accommodations and misunderstandings from society about autism, their particular needs for services, and being blamed by others (...) and by themselves for autistic traits. Their views of genetic testing tended not to be binary, but rather depended on how the genetic test results would be used. Interviewees perceived pros of genetic testing both in general and with regard to themselves (e.g., by providing “scientific proof” of autism as a diagnosis and possibly increasing availability of services). But they also perceived disadvantages and limitations of testing (e.g., possible eugenic applications). Participants distinguished between what they felt would be best for themselves and for the autistic community as a whole. When asked if they would undergo testing for themselves, if offered, interviewees added several considerations (e.g., undergoing testing because they support science in general). Interviewees were divided whether a genetic diagnosis would or should reduce self-blame, and several were wary of testing unless treatment, prevention or societal attitudes changed. Weighing these competing pros and cons could be difficult.Conclusions This study, the first to use in-depth qualitative interviews to assess views of autism self-advocates regarding genetic testing, highlights key complexities. Respondents felt that such testing is neither wholly good or bad in itself, but rather may be acceptable depending on how it is used, and should be employed in beneficial, not harmful ways. These findings have important implications for practice, education of multiple stakeholders, research, and policy. (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)

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 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)

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)

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)

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)

ABSTRACT The part played by time in ethics is often taken for granted, yet time is essential to moral decision making. This paper looks at time in ethical decisions about having a genetic test. We use a patient‐centred approach, combining empirical research methods with normative ethical analysis to investigate the patients' experience of time in (i) prenatal testing of a foetus for a genetic condition, (ii) predictive or diagnostic testing for breast and colon cancer, or (iii) (...) testing for Huntington's disease (HD). We found that participants often manipulated their experience of time, either using a stepwise process of microdecisions to extend it or, under the time pressure of pregnancy, changing their temporal ‘depth of field’. We discuss the implications of these strategies for normative concepts of moral agency, and for clinical ethics. (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)

In this article we examine commodification and marketisation of genetic testing by companies offering direct-to-consumer genetic testing to the general public through online platforms in Hong Kong. Recently, offers of genetic testing have expanded from scientific and clinical genetic settings to general medicine and non-medical domains. The wider availability of tests, however, has raised concerns about the currently available scientifically proven utility of these tests. Using theme-oriented discourse analysis, we analyse the specific discursive (...) modalities through which the DTC companies in Hong Kong make inflated claims about the value of genetic tests to pursue their marketing agenda. We show that in this way the companies are selling ‘more’ than specific products to consumers: they are selling ‘hope’ and ‘increased autonomy’, that is, an opportunity to buy commodities online that promise consumers control of their health and wellbeing. (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)

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)

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)

The growth in the direct-to-consumer genetic testing industry poses a number of challenges for healthcare practice, among a number of other areas of concern. Several companies providing this service send their customers reports including information variously referred to as genetic ethnicity, genetic heritage, biogeographic ancestry, and genetic ancestry. In this article, we argue that such information should not be used in healthcare consultations or to assess health risks. Far from representing a move toward personalized medicine, (...) use of this information poses risks both to patients as individuals and to racialized ethnic groups because of the way it misrepresents human genetic diversity. (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)

Predictive genetic testing for susceptibility to psychiatric conditions is likely to become part of standard practice. Because the onset of most psychiatric diseases is in late adolescence or early adulthood, testing minors could lead to early identification that may prevent or delay the development of these disorders. However, due to their complex aetiology, psychiatric genetic testing does not provide the immediate medical benefits that current guidelines require for testing minors. While several authors have argued (...) non-medical benefits may play a crucial role in favour of predictive testing for other conditions, little research has explored such a role in psychiatric disorders. This paper outlines the potential non-medical benefits and harms of psychiatric genetic testing in minors in order to consider whether the non-medical benefits could ever make such testing appropriate. Five non-medical themes arise in the literature: psychological impacts, autonomy/self-determination, implications of the biomedical approach, use of financial and intellectual resources, and discrimination. Non-medical benefits were prominent in all of them, suggesting that psychiatric genetic testing in minors may be appropriate in some circumstances. Further research needs to empirically assess these potential non-medical benefits, incorporate minors in the debate, and include normative reflection to evaluate the very purposes and motivations of psychiatric genetic testing in minors. (shrink)

The prelims comprise: Introduction Pre‐existing Conditions Case Model of Causation Case study of ‘Genetic Disease” The Future of Medical Insurance Conclusion Notes References Suggestions for Further Reading.