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)

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)

In their analysis of how much fetal genetic information prospective parents should be able to access, Bayefsky and Berkman determine that parents should only be able to access information th...

The application of genetic technologies in China, especially in the area of prenatal genetic testing, is rapidly increasing in China. In the wealthy regions of China, prenatal genetic testing is already very widely adopted. We argue that the government should actively promote prenatal genetic testing to the poor areas of the country. In fact, the government should prioritize resources first to make prenatal genetic testing a standard routine (...) care with an opt-out model in these area. Healthcare professions would be required to inform pregnant women about the availability of genetic testing and provide free testing on a routine basis unless the parents choose not to do so. We argue that this proposal will allow parents to make a more informed decision about their reproductive choices. Secondarily, this proposal will attract more healthcare professionals and other healthcare resources to improve the healthcare infrastructures in the less-developed regions of the country. This will help to reduce the inequity of accessing healthcare services between in different regions of China. We further argue that this policy proposal is not practicing eugenics. (shrink)

We would like to thank the authors of the excellent Open Peer Commentaries on our target article, “Implementing Expanded Prenatal Genetic Testing: Should Parents Have Access to Any and All Fetal Ge...

Bayefsky and Berkman argue in favor of evidence-based policy development for expanded prenatal genetic testing. They propose to identify what kinds of information pregnant persons, their par...

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)

Noninvasive prenatal testing promises to enhance women's reproductive autonomy by providing genetic information about the fetus, especially in the detection of genetic impairments like Down syndrome. In practice, however, NIPT provides opportunities for intensified manipulation and control over women's reproductive decisions. Applying Miranda Fricker's concept of epistemic injustice to prenatal screening, this article analyzes how medical professionals impair reproductive decision-making by perpetuating testimonial injustice. They do so by discrediting positive parental testimony about what it is (...) like to raise a child with DS. We argue that this testimonial injustice constitutes a twofold harm: people with DS and their family members who claim that parenting a child with DS may be a rewarding and joyous experience are harmed when they are systematically silenced, disbelieved, and/or denied epistemic credibility by medical professionals, and pregnant women are harmed since they might make poorly informed choices without access to all relevant information. The broader implication of the analysis is that epistemic justice is a precondition of reproductive autonomy. We conclude by calling for federal oversight of the acquisition and dissemination of information that prospective parents receive following a positive diagnosis of DS to ensure that it is comprehensive and up to date. (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)

Jürgen Habermas has argued against prenatal genetic interventions used to influence traits on the grounds that only biogenetic contingency in the conception of children preserves the conditions that make the presumption of moral equality possible. This argument fails for a number of reasons. The contingency that Habermas points to as the condition of moral equality is an artifact of evolutionary contingency and not inviolable in itself. Moreover, as a precedent for genetic interventions, parents and society already affect (...) children's traits, which is to say there is moral precedent for influencing the traits of descendants. A veil-of-ignorance methodology can also be used to justify prenatal interventions through its method of advance consent and its preservation of the contingency of human identities in a moral sense. In any case, the selection of children's traits does not undermine the prospects of authoring a life since their future remains just as contingent morally as if no trait had been selected. Ironically, the prospect of preserving human beings as they are – to counteract genetic drift – might even require interventions to preserve the ability to author a life in a moral sense. In light of these analyses, Habermas' concerns about prenatal genetic interventions cannot succeed as objections to their practice as a matter of principle; the merits of these interventions must be evaluated individually. (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...

For decades questionnaires have been used to measure the cognitive and psychological effects of prenatal genetic testing, but little is known about why some women undergo testing and others decline. Research indicates that many factors influence decision making, including values and beliefs. What is often denied rather than recognized is that the professional and personal values and beliefs held by the health care provider influence the patient’s decision. It is assumed that, if genetic services are (...) delivered in a nondirective manner, patients will not be affected by the provider’s personal and professional standpoint. The qualitative research data reported here challenge this assumption. Getting to know patients’ moral understanding and patterns of ethical reasoning by listening to their personal stories is recommended as a better way for nurses to help patients to make informed and autonomous decisions about prenatal genetic screening or diagnostic tests. (shrink)

Prenatal diagnosis, especially noninvasive prenatal testing, has changed the experience of pregnancy, prenatal care and responsibilities in Israel and Germany in different ways. These differences reflect the countries' historical legacies, medico-legal policies, normative and cultural identities. Building on this observation, the contributors of this book present conversations between leading scholars from Israel and Germany based on an empirical bioethical perspective, analyses about the reshaping of 'life' by biomedicine, and philosophical reflections on socio-cultural claims and epistemic horizons (...) of responsibilities. Practices and discussions of reproductive medicine transform the concepts of responsibility and irresponsibility. (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)

An increase in autonomy and freedom is often considered one ofthe main arguments in favour of a broad use of genetic testing.Starting from Gerald Dworkin's reflections on autonomy and choicethis article examines some of the implications which accompanythe increase in choices offered by prenatal genetic diagnosis.Although personal autonomy and individual choice are importantaspects in the legitimation of prenatal genetic diagnosis, itseems clear that an increase in choice offered by prenatalgenetic diagnosis also leads to various (...) implications that maynegatively influence the freedom of the persons involved. (shrink)

In "Implementing Expanded Prenatal Genetic Testing: Should Parents Have Access to Any and All Fetal Genetic Information?," Bayefsky and Berkman argue in favor of establishing three categorie...

The purpose of this paper is to unveil one problem that surrounds the debate over the moral standing of prenatal genetic enhancement (PGE) and to outline a solution to it. The problem is that we have no way to test our speculations about the consequences of prenatal enhancement without begging the question about the moral permissibility of enhancing unborn children. The only way to empirically support our speculations about the consequences of prenatal enhancement is to resort (...) to ethically worrisome (and radical) experimental genetic research. The suggested solution to this problem is to focus on the character of good parents. The virtue of parental wisdom is introduced and used as a basis for evaluating PGE. It is argued that good parents have good reason not to condone PGE for their children (in very many cases), especially as part of the first wave of genetically altered humans. (shrink)

Down syndrome (Trisomy 21) is a mild to moderate intellectual disability. Historically, this condition has been a primary target for prenatal testing. However, Down syndrome has not been targeted for prenatal testing because it is an especially severe illness. The condition was just one that could be easily identified prenatally using the techniques first available decades ago. We are moving into an era in which we can prenatally test for a vast range of human traits. I (...) argue that when we can test for anything, there is no longer any reason to continue targeting Down syndrome. I present an argument based on the value of nondiscrimination. It is justified to set limits on access to prenatal information if the information is going to be used for discriminatory purposes. I use the examples of (1) prenatal testing for misogynistic fetal sex selection, and (2) homophobia-motivated prenatal testing for potential homosexuality, as compelling analogies. (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)

Congenital deafness is one of the most common birth defects reported. Approximately 70% of congenital deafness is non-syndromic, and approximately 80% of non-syndromic hearing loss results from a genetic cause. Middleton et al.’s1998 study highlighted the negative attitudes of culturally Deaf individuals towards genetic testing for genes known to cause hearing loss. While studies concerning genetic testing for deafness genes reference Middleton’s study, to our knowledge a re-evaluation of the attitudes of Deaf individuals towards (...) class='Hi'>genetic testing has not been conducted recently. The purpose of this study is to re-establish attitudes of Deaf individuals towards genetic testing of genes known to cause hearing loss. A computer-based questionnaire was distributed to members of the Deaf community. Responses of participants were recorded and analyzed. The primary investigator then attended Deaf community events and the 2015 Alabama Association of the Deaf Conference, and recruited individuals interested in participating in the study. The surveys were distributed to these individuals and their anonymous responses were analyzed. Our results show there are more positive attitudes within the Deaf community towards genetic counseling, genetic testing, and prenatal testing of genes known to cause hearing loss than were previously documented, although negative attitudes are still present. Additionally, our study shows there is a desire among members of the Deaf community to learn more about and potentially receive these services, despite the fact they are rarely offered by healthcare providers. (shrink)

Medical professionals routinely offer prenatal genetic testing services to their expecting patients. In theory, this testing helps expecting parents better prepare for the birth of their child: e.g., if the child will have a disability. In practice, however, such testing often leads to the termination of pregnancies that would produce a child who has a disability. Some bioethicists believe that in light of our society’s history of poor treatment of people who have disabilities, when expecting (...) parents use prenatal testing for selective abortion and when medical professionals promote the use of such testing, they express a disparaging message to and about extant disabled people: e.g., that disabled people’s lives are... (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)

The increasing availability of DNA-based diagnostic tests has raised issues about whether these should be applied to the population at large in order to identify, treat or prevent a range of diseases. DNA tests raise concerns in the community for several reasons. There is the possibility of stigmatisation and discrimination between those who test positive and those who don't. High-risk individuals may be identified for whom no proven effective intervention is possible, or conversely may test "positive" for a disease that (...) does not eventuate. Controversy concerning prenatal diagnosis and termination of affected pregnancies may arise. Haemochromatosis, however, is a disease that is not only treatable but also preventable if those at high risk are identified presymptomatically. This paper will identify and discuss key issues regarding DNA-based population screening for haemochromatosis, and argue that population-based genetic screening for haemochromatosis should be supported when a number of contentious issues are addressed. In the context of a health system with limited resources haemochromatosis is the paradigm of a disorder where there is an ethical and clinical imperative to encourage presymptomatic DNA testing for all in ethnically relevant communities. (shrink)

Epidemiologists and geneticists claim that genetics has an increasing role to play in public health policies and programs in the future. Within this perspective, genetic testing and screening are instrumental in avoiding the birth of children with serious, costly or untreatable disorders. This paper discusses genetic testing and screening within the framework of eugenics in the health care context of India. Observations are based on literature review and empirical research using qualitative methods. I distinguish ‘private’ from (...) ‘public’ eugenics. I refer to the practice of prenatal diagnosis as an aspect of private eugenics, when the initiative to test comes from the pregnant woman herself. Public eugenics involves testing initiated by the state or medical profession through (more or less) obligatory testing programmes. To illustrate these concepts I discuss the management of thalassaemia, which I see as an example of private eugenics that is moving into the sphere of public eugenics. I then discuss the recently launched newborn screening programme as an example of public eugenics. I use Foucault’s concepts of power and governmentality to explore the thin line separating individual choice and overt or covert coercion, and between private and public eugenics. We can expect that the use of genetic testing technology will have serious and far-reaching implications for cultural perceptions regarding health and disease and women’s experience of pregnancy, besides creating new ethical dilemmas and new professional and parental responsibilities. Therefore, culturally sensitive health literacy programmes to empower the public and sensitise professionals need attention. (shrink)

Background Prenatal genetic testing, in particular non-invasive prenatal testing (NIPT), as well as screening for risks associated with pregnancy, and counseling, play pivotal roles in reproductive healthcare, offering valuable information about the health of the fetus to expectant parents. This study aims to delve into the perspectives and experiences of women considering genetic testing and screening during pregnancy, focusing on their decision-making processes and the implications for informed consent. Methods A nationwide qualitative study (...) was conducted in Switzerland, involving in-depth interviews with women who were 1 to 2 years post-partum, covered by basic compulsory Swiss insurance, including women with a migration background. Thematic analysis was employed to identify key themes and patterns in the data. Results The findings underscore the significance of effective communication during prenatal counseling, suggesting that healthcare providers could not only convey technical information but also support women in their decision-making processes. Women need comprehensive information about genetic testing and its implications, as well as the reasons for screening during pregnancy, as there might be a need to bridge knowledge gaps and clarify misconceptions. Furthermore, the study highlights the multifaceted nature of decision-making, with women considering factors such as uncertainty, values, emotional responses, and societal support systems. The concept of acceptance emerged as a crucial theme, with some women expressing their readiness to love and accept their child, regardless of genetic anomalies or disabilities. Conclusion This study offers valuable insights into the perspectives and needs of women regarding prenatal genetic testing, screening, and counseling in Switzerland. It underscores the importance of enhancing the clinical interaction and informed consent process by providing comprehensive information, addressing misconceptions, and supporting women in decision-making about pregnancy management and the management of the child’s health, following prenatal genetic testing, including NIPT. These findings can inform healthcare providers and policymakers in improving the quality of prenatal counseling, ensuring informed consent, and supporting women in making well-informed and meaningful decisions about genetic testing, and on the use of screening during pregnancy. (shrink)

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

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.

This paper calls fresh attention to ethical problems surrounding prenatal testing by focusing on genetic knowledge gained through evolving testing procedures. Advances in reproductive and prenatal genetic testing include non-invasive tests, such as Verifi and Materniti21, designed to gather detailed information regarding fetal DNA as early as 10 weeks. Meanwhile, a new method of chromosomal microarray has proved more reliable than karyotyping in detecting fetal abnormality. This method detects abnormalities in 1 out of (...) every 60 pregnancies in which karyotyping identified the fetus as “normal.” Chromosomal microarray directly compares fetal DNA to DNA from a presumptively “healthy person” to identify genetic deviations. The chromosomal microarray method thus assumes a human genetic blueprint—that is, a normal genotype, deviance from which is risky and open to medical diagnosis. But, according to philosopher and geneticist Jackie Leach Scully, there is no genetic blueprint for human beings. Rather, genetic variation is constant. Thus, notes Scully, genetic discourse could free medical discourse from the dictates of the binary between normal and abnormal, although mistaken belief in a genetic blueprint can foil this alternative way of speaking and thinking. Prenatal testing has received critical philosophical attention from both disability theorists and feminists. Adrienne Asch suggests that prenatal testing and diagnosis stigmatizes already-existing persons with disabilities by suggesting that bodily deviance is intolerable. Licia Carlson coined the phrase “prenatal prototypes” to describe the obfuscating results of genetic profiling carried out on the fetus. The philosophical conversation Asch and Carlson stimulate involves higher stakes now that testing uncovers fetal genotype and reveals mere genetic deviation in order to aid reproductive decision-making. I argue that prenatal testing, and especially the most recently developed testing procedures described above, forecloses Scully’s alternative discourse of genetic variation by supporting an ideal of a singular “healthy genotype,” deviance from which is to be uncovered and avoided. Mobilizing this insight by drawing on the work of feminist disability scholars like Asch and Carlson, I seek to foreground the play between norm and deviance. I expose the normalizing field of statistical risk, operating in excess of medical diagnosis, which requires potential parents to manage and avoid deviance itself. (shrink)

Prenatal care and the practice of prenatal genetic testing are about to be changed fundamentally. Due to several ground-breaking technological developments prenatal screening and diagnosis (PND) will soon be offered earlier in gestation, with less procedure-related risks and for a profoundly enlarged variety of targets. In this paper it is argued that the existing normative framework for prenatal screening and diagnosis cannot answer adequately to these new developments. In concentrating on issues of informed consent (...) and the reproductive autonomy of the pregnant women the ethical debate misses problems related to the clinical pathway as a whole and to implicit normative attributions to clinical actions or the function of health care professionals. If, however, ethical debate would focus on the clinical context and on the ends of PND to a larger extent, it would be able to provide a more comprehensive analysis of the ethical challenges especially of the new technologies in order to be more adequately prepared for their implementation. (shrink)

If polygenic risk scores for traits are to be provided to parents before—as opposed to after—a child is born, these scores will provide the very first units of information upon which parents will b...

This study brings together two important literatures together in the one volume. One concerns the role of quality assessments in social policy, especially health policy. The second concerns ethical and social issues raised by prenatal testing for disability. Hitherto, these two literatures have had little contact with each other: few scholars have written about both, or have compared the two domains in a systematic way, while people with disabilities and disability scholars are underrepresented in recent discussion on health (...) policy and quality of assessment. This book turns the perspectives of disability scholars on issues that have largely been the province of health methodology, policy and philosophy, while angling philosophical policy analysis on problems that have largely been the province of disability scholarship. This volume will be sought after by bioethicists, philosophers, and specialists in disability studies and healthcare economics. (shrink)

This article investigates the role of historical references and arguments in the current policy debate on non‐invasive prenatal testing (NIPT) in Germany. It analyses major documents and opinion statements, including the recent parliamentary debate (2019). The implementation of NIPT is accompanied by concerns and strong criticism, particularly in Germany. Many perceive the new test to be a problematic step that facilitates selective practices and is reminiscent of eugenics. Analysis of the German policy discourse shows that ‘eugenics’, and even (...) more strongly, ‘selection’, are pivotal terms for rejecting NIPT and its coverage by public health insurance. They touch on a historical dimension in public deliberation, namely the fundamental distancing from the inhuman practices of the National Socialist period and anything that resembles them. However, using these terms to criticize prenatal genetic testing is controversial, and recent discourse demonstrates their avoidance as well, with many supporters of a limited coverage by public health insurance contrasting their approach with more widespread screening. Here, ‘screening’ has a negative connotation, and functions to demarcate the debate in a way that may reflect distance from certain modes of historical reasoning, but still expresses a special need to reconcile prenatal testing with the principles of dignity, inclusion and diversity. This article aims to elucidate the concerns involved in the national debates on prenatal testing and to increase awareness of the historical dimensions of the language and reasoning with which such methods are negotiated today and in future. (shrink)

The scope of noninvasive prenatal testing (NIPT) could expand in the future to include detailed analysis of the fetal genome. This will allow for the testing for virtually any trait with a genetic contribution, including “non-medical” traits. Here we discuss the potential use of NIPT for these traits. We outline a scenario which highlights possible inconsistencies with ethical decision-making. We then discuss the case against permitting these uses. The objections include practical problems; increasing inequities; increasing the (...) burden of choice; negative impacts on the child, family, and society; and issues with implementation. We then outline the case for permitting the use of NIPT for these traits. These include arguments for reproductive liberty and autonomy; questioning the labeling of traits as “non-medical”; and the principle of procreative beneficence. This summary of the case for and against can serve as a basis for the development of a consistent and coherent ethical framework. (shrink)

The scope of noninvasive prenatal testing (NIPT) could expand in the future to include detailed analysis of the fetal genome. This will allow for the testing for virtually any trait with a genetic contribution, including “non-medical” traits. Here we discuss the potential use of NIPT for these traits. We outline a scenario which highlights possible inconsistencies with ethical decision-making. We then discuss the case against permitting these uses. The objections include practical problems; increasing inequities; increasing the (...) burden of choice; negative impacts on the child, family, and society; and issues with implementation. We then outline the case for permitting the use of NIPT for these traits. These include arguments for reproductive liberty and autonomy; questioning the labeling of traits as “non-medical”; and the principle of procreative beneficence. This summary of the case for and against can serve as a basis for the development of a consistent and coherent ethical framework. (shrink)

The Target Article “Non-invasive prenatal testing for ‘non-medical’ traits: ensuring consistency in ethical decision making” by Bowman-Smart et al. (2023) raises the important issue that “decision-...

Informed consent is a key condition for prenatal screening programmes to reach their aim of promoting reproductive autonomy. Reaching this aim is currently being challenged with the introduction of non-invasive prenatal testing (NIPT) in first-trimester prenatal screening programmes: amongst others its procedural ease—it only requires a blood draw and reaches high levels of reliability—might hinder women’s understanding that they should make a personal, informed decision about screening. We offer arguments for a renewed recognition and use of (...) informed consent compared to informed choice, and for a focus on value-consistent choices and personalized informational preferences. We argue for a three-step counselling model in which three decision moments are distinguished and differently addressed: (1) professionals explore women’s values concerning whether and why they wish to know whether their baby has a genetic disorder; (2) women receive layered medical-technical information and are asked to make a decision about screening; (3) during post-test counselling, women are supported in decision-making about the continuation or termination of their pregnancy. This model might also be applicable in other fields of genetic (pre-test) counselling, where techniques for expanding genome analysis and burdensome test-outcomes challenge counselling of patients. (shrink)

Informed consent is a key condition for prenatal screening programmes to reach their aim of promoting reproductive autonomy. Reaching this aim is currently being challenged with the introduction of non‐invasive prenatal testing (NIPT) in first‐trimester prenatal screening programmes: amongst others its procedural ease—it only requires a blood draw and reaches high levels of reliability—might hinder women’s understanding that they should make a personal, informed decision about screening. We offer arguments for a renewed recognition and use of (...) informed consent compared to informed choice, and for a focus on value‐consistent choices and personalized informational preferences. We argue for a three‐step counselling model in which three decision moments are distinguished and differently addressed: (1) professionals explore women’s values concerning whether and why they wish to know whether their baby has a genetic disorder; (2) women receive layered medical‐technical information and are asked to make a decision about screening; (3) during post‐test counselling, women are supported in decision‐making about the continuation or termination of their pregnancy. This model might also be applicable in other fields of genetic (pre‐test) counselling, where techniques for expanding genome analysis and burdensome test‐outcomes challenge counselling of patients. (shrink)

A new landscape of prenatal testing is presently developing, including new techniques for risk-reducing, non-invasive sampling of foetal DNA and drastically enhanced possibilities of what may be rapidly and precisely analysed, surrounded by a growing commercial genetic testing industry and a general trend of individualization in healthcare policies. This article applies a set of established ethical notions from past debates on PNT for analysing PNT screening-programmes in this new situation. While some basic challenges of PNT stay (...) untouched, the new development supports a radical individualization of how PNT screening is organized. This reformation is, at the same time, difficult to reconcile with responsible spending of resources in a publicly funded healthcare context. Thus, while the ethical imperative of individualization holds and applies to PNT, the new landscape of PNT provides reasons to start rolling back the type of mass-screening programmes currently established in many countries. Instead, more limited offers are suggested, based on considerations of severity of conditions and optimized to simultaneously serve reproductive autonomy and public health within an acceptable frame of priorities. The new landscape of PNT furthermore underscores the ethical importance of supporting and including people with disabilities. For the very same reason, no ban on what may be analysed using PNT in the new landscape should be applied, although private offers must, of course, conform to strict requirements of respecting reproductive autonomy and what that means in terms of counselling. (shrink)

The use of genomic testing in pregnancy is increasing, giving rise to questions over how the information that is generated should be offered and returned in clinical practice. While these tests provide important information for prenatal decision-making, they can also generate information of uncertain significance. This paper critically examines three models for approaching the disclosure of variants of uncertain significance (VUS), which can arise from forms of genomic testing such as prenatal chromosomal microarray analysis (CMA). Contrary (...) to prevailing arguments, we argue that respect for reproductive autonomy does not justify adopting a model on which an offer to disclose VUS is a routine part of genetic counselling. Instead, we contend that a commitment both to solidarity between healthcare providers and pregnant women and to the acceptance of a novel principle of caution under normative uncertainty means that we should instead adopt a model of VUS disclosure that imposes a strong presumption against offering to disclose VUS. The upshot of this is that it should be standard practice to only offer to disclose VUS when this is requested by the woman undergoing CMA. We defend our position against claims that arise from an alleged right to such information and that a presumption against an offer will lead to inequity. (shrink)

Whole genome sequencing is quickly becoming more affordable and accessible, with the prospect of personal genome sequencing for under $1,000 now widely said to be in sight. The ethical issues raised by the use of this technology in the research context have received some significant attention, but little has been written on its use in the clinical context, and most of this analysis has been futuristic forecasting. This is problematic, given the speed with which whole genome sequencing technology is likely (...) to be incorporated into clinical care. This paper explores one particular subset of these issues: the implications of adopting this technology in the prenatal context without a good understanding of when and how it is useful. Prenatal whole genome sequencing differs from current prenatal genetic testing practice in a number of ethically relevant ways. Most notably, whole genome sequencing would radically increase the volume and scope of available prenatal genetic data. The wealth of new data could enhance reproductive decision‐making, promoting parents' freedom to make well‐informed reproductive decisions. We argue, however, that there is potential for prenatal whole genome sequencing to alter clinical practice in undesirable ways, especially in the short term. We are concerned that the technology could (1) change the norms and expectations of pregnancy in ways that complicate parental autonomy and informed decision‐making, (2) exacerbate the deleterious role that genetic determinism plays in child rearing, and (3) undermine children's future autonomy by removing the option of not knowing their genetic information without appropriate justification. (shrink)

Background Noninvasive prenatal testing (NIPT) designed to screen for fetal genetic conditions, is increasingly being implemented as a part of routine prenatal care screening in the United States (US). However, these advances in reproductive genetic technology necessitate empirical research on the ethical and social implications of NIPT among populations underrepresented in genetic research, particularly Black women with sickle cell disease (SCD).Methods Forty (N = 40) semi-structured interviews were conducted virtually with Black women in the (...) US (19 participants with SCD; 21 participants without SCD) from June 2021 to January 2022. We employed a qualitative approach to examine the study participants’ perceptions of the potential advancement of NIPT for screening SCD in the fetus. Data were analyzed using NVivo 12 qualitative software.Results The themes revealed the complexities involving the intersectional lived experiences of SCD, prenatal care, lack of synergy among health providers, and NIPT decision-making. The results further revealed that even when Black women have shared commonalities in their lived experiences while navigating SCD and motherhood, their perceptions of NIPT screening technologies are divergent.Conclusion Expanding the ethical discourse on the social implications of NIPT is critical to fully elucidate how Black women perceive NIPT’s utility, particularly as NIPT advances to screen for SCD in the fetus. Neglecting to include Black women with genetic conditions in empirical studies on NIPT may contribute to ongoing health inequities and limit and constrain reproductive choices among Black women with and without SCD. (shrink)

The issue of prenatal testing and selective abortion has never received open public appraisal. This is somewhat regrettable. The interest in this area, however, is rapidly growing. In part this is a result of concerns about the rate of development in genetic knowledge and questions as to its application. For instance, there will be a huge increase in the scope of conditions or features for which we will be able to screen, some of which could hardly be (...) described as significant. Further, for some time now, people with disabilities have had concerns about the practice of prenatal testing and selective abortion. This article looks at the relationship between reproductive autonomy, prenatal testing and associated practices, and the interests of people with disabilities. It asks whether such practices negatively affect the interests of such individuals, and if so, how. This is an important question for the formulation of public policy in this area. Although some groups have studied this issue in detail, policy bodies do not necessarily fully engage with their analyses. This may be a reflection of public confusion about this issue. To some degree, fear of causing offense may also inhibit both expression of public opinion and, in turn, policy analysis. This is unfortunate and needs to be acknowledged. a. (shrink)

In 1969, the field of human genetics was in its infancy. Amniocentesis was a new technique for prenatal diagnosis, and a newborn genetic screening program had been established in one state. There were also concerns about the potential hazards of genetic engineering. A research group at the Hastings Center and Paul Ramsey pioneered in the discussion of genetics and bioethics. Two principal techniques have emerged as being of enduring importance: human gene transfer research and genetic (...) class='Hi'>testing and screening. This essay tracks the development and use of these techniques and considers the ethical issues that they raise. (shrink)