Bowman-Smart et al. (2023) do an admirable job of explaining the expansion of noninvasive prenatal testing and outlining the arguments for and against testing for “non-medical” traits—arguments com...

Developments in Non-Invasive Prenatal Testing (NIPT) and cell-free fetal DNA analysis raise the possibility that antenatal services may soon be able to support couples in non-invasively testing for, and diagnosing, an unprecedented range of genetic disorders and traits coded within their unborn child’s genome. Inevitably, this has prompted debate within the bioethics literature about what screening options should be offered to couples for the purpose of reproductive choice. In relation to this problem, the European Society of Human Genetics (ESHG) and (...) American Society of Human Genetics (ASHG) tentatively recommend that any expansion of this type of screening, as facilitated by NIPT, should be limited to serious congenital and childhood disorders. In support of this recommendation, the ESHG and ASHG cite considerations of distribution justice. Notably, however, an account of justice in the organization and provision of this type of screening which might substantiate this recommendation has yet to be developed. This paper attempts to redress this oversight through an investigation of Norman Daniels’ theory of Just health: meeting health needs fairly. In line with this aim, the paper examines what special moral importance (for Just health) screening for the purpose of reproductive choice might have where concerning serious congenital and childhood disorders in particular. The paper concludes that screening for reproductive choice where concerning serious congenital and childhood disorders may be important for providing women with fair opportunity to protect their health (by either having or not having an affected child). (shrink)

In their article, “Non-invasive prenatal testing for ‘non-medical’ traits: ensuring consistency in ethical decision-making,” Hilary Bowman-Smart and colleagues (2023) claim merely to lay out the gr...

Since the 1970s, prenatal testing has been integrated into many health care systems on the basis of two competing and largely irreconcilable rationales. The reproductive autonomy rationale focuses on nondirective counseling and consent as ways to ensure that women's decisions about testing and subsequent care are informed and free of undue pressures. It also represents an easily understandable and ethically convincing basis for widespread access to prenatal testing, since the value of autonomy is well established in Western bioethics and widely (...) recognized by funders of health care. In contrast, the public health rationale approaches prenatal testing as designed to reduce the incidence of certain conditions in the population to reduce the burden of disease. This rationale emphasizes the societal consequences of reproduction and the aggregate impact of women's individual reproductive decisions on the overall health of future populations. In this essay, I argue that, despite what could be seen as a persistent failure to meet the ideals of reproductive autonomy, resisting the public health rationale as a basis for prenatal screening is ethically and pragmatically crucial. I recommend policy mechanisms that can enhance reproductive autonomy at a societal level to support choice at the individual level. (shrink)

The authors of the target article discuss the expansion of the scope of noninvasive prenatal testing (NIPT) that is likely to occur in the near future, including its possible extension to “non-medi...

The ethical principle of ‘respect for persons’ in clinical research has traditionally focused on protecting individuals’ autonomy rights, but respect for participants also includes broader, although less well understood, ethical obligations to regard individuals’ rights, needs, interests and feelings. However, there is little empirical evidence about how to effectively convey respect to potential and current participants. To fill this gap, we conducted exploratory, qualitative interviews with participants in a clinical genomics implementation study. We interviewed 40 participants in English or Spanish (...) about their experiences with respect in the study and perceptions of how researchers in a hypothetical observational study could convey respect or a lack thereof. Most interviewees were female, identified as Hispanic/Latino or non-Hispanic white, reported annual household income under US$60 000 and did not have a Bachelor’s degree ; 30% had limited health literacy. We identified four key domains for demonstrating respect: personal study team interactions, with an emphasis on empathy, appreciation and non-judgment; study communication processes, including following up and sharing results with participants; inclusion, particularly ensuring materials are understandable and procedures are accessible; and consent and authorisation, including providing a neutral informed consent and keeping promises regarding privacy protections. While the experience of respect is inherently subjective, these findings highlight four key domains that may meaningfully demonstrate respect to potential and current research participants. Further empirical and normative work is needed to substantiate these domains and evaluate how best to incorporate them into the practice of research. (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)

Moderne teknologi gir fantastiske muligheter for menneskelig formering. Mange som tidligere ikke kunne få barn, eller som fikk syke barn, kan nå hjelpes. Samtidig reiser mulighetene en rekke vanskelige moralske spørsmål, som ikke har enkle svar – ofte fordi de bunner i grunnleggende etiske motsetninger. Denne artikkelen gir en kort oversikt over de mulighetene som tre typer teknologier gir: assisterende, seleksjonsfremmende og egenskapsendrende teknologier. Deretter peker den på noen av de viktige moralske spørsmålene som disse teknologiene reiser i betydningen «Hvordan (...) bør teknologiene brukes»? Så stilles spørsmålet: Hvordan skal vi begrunne bruken? Dette spørsmålet peker på en rekke grunnleggende etiske utfordringer. Det er disse utfordringene som gjør at de moralske spørsmålene sjelden finner solide og stabile svar, men til stadighet blusser opp i til dels heftige offentlige debatter. I tillegg løfter artikkelen frem flere moralske spørsmål som er glemt eller gjemt. Spørsmålene som vi ikke stiller kan ofte fortelle oss like mye om oss selv og våre verdier, som de spørsmålene som drøftes eksplisitt. De moralske spørsmålene – samt de underliggende etiske utfordringene og de glemte spørsmålene – kan forklare hvorfor debattene ofte står på stedet hvil, og hva vi må jobbe med for å komme videre i drøftingene av moderne reproduksjonsteknologi. Vi synes å være teknologiske helter som er fremragende på teknikk, men elendige på etikk. Målet er å forhindre at vi blir tragiske helter som går til grunne på våre beste egenskaper. Nøkkelord: reproduksjonsteknologi, assistert reproduksjon, invitro-fertilisering, fosterdiagnostikk, genredigering, sortering, abortEnglish summary: Ethical challenges with newer reproductive technology Modern technologies provide fascinating opportunities for human reproduction. Many persons previously infertile, or who risked having diseased children, can now have healthy children. At the same time, these technological opportunities also raise a wide range of moral questions, which rarely have easy answers. One reason for this is that they are based on profound ethical challenges. This article sets out to give a short overview of three types of technologies: assisting, selective, and characteristic-changing technologies. It goes on to highlight some of the important moral questions raised by these technologies. The third part addresses the basic ethical challenges lurking behind the moral questions and debates. The fourth part addresses some forgotten or hidden questions, arguing that these are telling and important. The article ends with arguing that many of the basic ethical challenges and the unaddressed questions can explain why debates on reproductive technologies are so heated and static. We appear to have become technological giants, but ethical infants. Accordingly, we should try to avoid becoming tragic heroes succumbing to our very best abilities. (shrink)

Introduction: Non-invasive prenatal testing (NIPT) allows for genetic testing of a fetus through the analysis of cell-free DNA from the mother’s plasma. NIPT is easy and safe for the fetus, since it only requires a blood draw from the mother and therefore holds no risk of miscarriage. It is considered superior to other prenatal screening tests and can also be performed earlier in the pregnancy. NIPT has the future potential for fetal whole genome sequencing (FWGS) for an expanded range of (...) conditions, such as late onset genetic conditions and carrier status. Objective: To review ethical, legal, social, and policy implications of the potential use of non-invasive prenatal testing for FWGS. Methods: This study is a critical interpretive literature review exploring and reporting ethical, legal, social, and policy implications of potential future implementation of NIPT for FWGS, which will be referred to as non-invasive prenatal whole genome sequencing (NIPW). Database and reference list searching was conducted between 2010 and 2019 for terms related to “non-invasive prenatal testing” AND “fetal whole genome sequencing” and derivatives. Results: Following screening, 32 articles were included. Data were grouped into four thematic categories: 1) ethical implications for the future child concerning autonomy and harms, as well as for prospective parents involving autonomy, informed consent concerns, and harms; 2) legal implications including privacy concerns; 3) social implications including changes in family dynamics, altered societal perceptions and disability concerns, justice and equity in accessing the test, and social pressure to use the test; and 4) policy implications including cost and funding concerns, limiting the scope of testing, as well as counseling, education, and support. Discussion: The discussion of results highlights several ethical, legal, social, and policy implications of NIPT use for FWGS. These findings have implications on NIPT implementation for FWGS including how the autonomy of the future child should be balanced with the autonomy of prospective parents, the scope of conditions that should or should not be tested for – and covered or not covered by the healthcare system – and the regulation of FWGS introduction, among others. Further research needs to be performed to address these concerns and hence guide the discussion about the clinical implementation of FWGS through NIPT. (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...

The paper by Bowman-Smart et al. (2023) on noninvasive prenatal genetic testing (NIPT) for non-medical traits aims to set out the case for and the case against such testing. In response to their pa...

Expanded non-invasive prenatal testing (NIPT) has provoked ethical concerns about its justifiable scope. In this paper, we evaluate the role of the child’s right to an open future in setting the scope of NIPT. This ‘open future principle’ has been cited in arguments both limiting and expanding parental freedoms. This moral right holds that adult autonomy rights which children cannot yet exercise should nonetheless be protected until they can. Its purpose is to protect the future autonomy of the child as (...) a future adult. Several authors have extended this rationale from child to fetus. However, the right was not anticipated to apply to the fetus, a non-legal entity in many jurisdictions. The aim of this paper is to reconsider whether this principle is useful to help deliberate the scope of NIPT. We find that extending the open future principle to delineate the scope of NIPT is theoretically flawed. We contend that in the prenatal context its value primarily lies with counselling for prenatal screening where it can be used to encourage parents’ reflection on the implications of knowing for the sake of knowing on their future children and their relationship with them. (shrink)

Noninvasive, prenatal whole genome sequencing may be a technological reality in the near future, making available a vast array of genetic information early in pregnancy at no risk to the fetus or mother. Many worry that the timing, safety, and ease of the test will lead to informational overload and reproductive consumerism. The prevailing response among commentators has been to restrict conditions eligible for testing based on medical severity, which imposes disputed value judgments and devalues those living with eligible conditions. (...) To avoid these difficulties, we propose an unrestricted testing policy, under which prospective parents could obtain information on any variant of known significance after a careful informed consent process that uses an interactive decision aid to deliver a mandatory presentation on the purposes, techniques, and limitations of genomic testing, as well as optional resources for reflection and consultation. This process would encourage thoughtful, informed deliberation by prospective parents before deciding whether or how to use NIPW. (shrink)

In several jurisdictions, irremediable suffering from a medical condition is a legal requirement for access to assisted dying. According to the expressivist objection, allowing assisted dying for a specific group of persons, such as those with irremediable medical conditions, expresses the judgment that their lives are not worth living. While the expressivist objection has often been used to argue that assisted dying should not be legalised, I show that there is an alternative solution available to its proponents. An autonomy-based approach (...) to assisted suicide regards the provision of assisted suicide (but not euthanasia) as justified when it is autonomously requested by a person, irrespective of whether this is in her best interests. Such an approach has been put forward by a recent judgment of the German Federal Constitutional Court, which understands assisted suicide as an expression of the person’s right to a self-determined death. It does not allow for beneficence-based restrictions regarding the person’s suffering or medical diagnosis and therefore avoids the expressivist objection. I argue that on an autonomy-based approach, assisted suicide should not be understood as a medical procedure but rather as the person’s autonomous action. (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)

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)