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)

Due to new developments in prenatal testing and therapy the fetus is increasingly visible, examinable and treatable in prenatal care. Accordingly, physicians tend to perceive the fetus as a patient and understand themselves as having certain professional duties towards it. However, it is far from clear what it means to speak of a patient in this connection. This volume explores the usefulness and limitations of the concept of ¿fetal patient¿ against the background of the recent seminal developments in prenatal or (...) fetal medicine. It does so from an interdisciplinary and international perspective. Featuring internationally recognized experts in the field, the book discusses the normative implications of the concept of ¿fetal patient¿ from a philosophical-theoretical as well as from a legal perspective. This includes its implications for the autonomy of the pregnant woman as well as its consequences for physician-patient-interactions in prenatal medicine. (shrink)

The article reconsiders the nature and location of science in the development of genetic classification. Drawing on field studies of medical genetics, we explore how patient categorization is accomplished in between the clinic and laboratory. We focus on dysmorphology, a specialism concerned with complex syndromes that impair physical development. We show that dys-morphology is about more than fitting patients into prefixed diagnostic categories and that diagnostic process is marked by moments of uncertainty, ambiguity, and deferral. We describe how different forms (...) of evidence are brought into play and how patterns of physical features are identified as genetic or not. We suggest that clinical categorical work helps articulate the genetic as an emergent domain of medical classification and that moments of ambiguity and deferral create an imperative space that helps legitimate the need for more technoscience, and consequently, more clinical judgment with which to fix the genetic future. (shrink)

BackgroundEthics consultation is recognized as an opportunity to share responsibility for difficult decisions in prenatal medicine, where moral intuitions are often unable to lead to a settled decision. It remains unclear, however, if the general standards of ethics consultation are applicable to the very particular setting of pregnancy.Main textWe sought to analyze the special nature of disagreements, conflicts and value uncertainties in prenatal medicine as well as the ways in which an ethics consultation service (ECS) could possibly respond to them (...) and illustrated our results with a case example. Ethics facilitation and conflict mediation, currently, have no broadly consented normative framework encompassing prenatal diagnosis and therapy as well as reproductive choice to draw on. Even so, they can still be helpful instruments for ethically challenging decision-making in prenatal medicine provided two additional rules are respected: For the time being, ECSs should (a) refrain from issuing content-heavy recommendations in prenatal medicine and (b) should not initiate conflict mediations that would involve the pregnant woman or couple as a conflict party.ConclusionIt seems to be vital that ethics consultants as well as health care professionals acknowledge the current limitations and pitfalls of ethics consultation in prenatal medicine and together engage in the advancement of standards for this particularly complex setting. (shrink)

The prevention, treatment and management of disease are closely linked to how the causes of a particular disease are explained. For multi-factorial conditions, the causal explanations are inevitably complex and competing models may exist to explain the same condition. Selecting one particular causal explanation over another will carry practical and ethical consequences that are acutely relevant for health policy. In this paper our focus is two-fold; the different models of causal explanation that are put forward within current scientific literature for (...) the high and rising prevalence of the common complex conditions of coronary artery disease and type 2 diabetes mellitus ; and how these explanations are taken up within national health policy guidelines. We examine the causal explanations for these two conditions through a systematic database search of current scientific literature. By identifying different causal explanations we propose a three-tier taxonomy of the most prominent models of explanations: evolutionary, lifecourse, and lifestyle and environment. We elaborate this taxonomy with a micro-level thematic analysis to illustrate how some explanations are semantically and rhetorically foregrounded over others. We then investigate the uptake of the scientific causal explanations in health policy documents with regard to the prevention and management recommendations of current National Service Frameworks for CAD and T2D. Our findings indicate a lack of congruence between the complexity and frequent overlap of causal explanations evident in the scientific literature and the predominant focus on lifestyle recommendations found in the mainstream health policy documents. (shrink)

Contributions to this study are drawn both from health professionals engaged in genetic counselling and from observers and critics with backgrounds in law, philosophy, biology, and the social sciences. This diversity will enable health professonals to examine their activities with a fresh eye, and will help the observer-critic to understand the ethical problems that arise in genetic counselling practice, rather than in imaginary encounters. Most examinations of the ethical issues raised by genetics are concerned in a broad sense with the (...) application of new technology to human reproduction. This volume focuses on genetic counselling and screening as such, providing valuable insights for the health professional, social scientist, philosopher, lawyer, and bioethicist. (shrink)

Discussion of a “duty to recontact” emerged as technological advances left professionals considering getting back in touch with patients they had seen in the past. While there has been much discussion of the duty to recontact as a matter of theory and ethics, there has been rather little empirically based analysis of what this “duty” consists of. Drawing on interviews with 34 professionals working in, or closely with, genetics services, this paper explores what the “duty to recontact” means for healthcare (...) professionals involved in genetics. Using a discourse analytic framework, the paper identifies three system generated discourses on recontact (governance, legal and responsibilizing discourses) and three lifeworld discourses (situating recontact as a formal duty; more loosely as an obligation; and as a personal sense of responsibility). In summary, the paper shows that the “duty” to recontact involves a complex interplay of system responsibilities with professional duties, responsibilities and obligations. (shrink)

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

The 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...

Contributions to this study are drawn both from health professionals engaged in genetic counselling and from observers and critics with backgrounds in law, philosophy, biology, and the social sciences. This diversity will enable health professonals to examine their activities with a fresh eye, and will help the observer-critic to understand the ethical problems that arise in genetic counselling practice, rather than in imaginary encounters. Most examinations of the ethical issues raised by genetics are concerned in a broad sense with the (...) application of new technology to human reproduction. This volume focuses on genetic counselling and screening as such, providing valuable insights for the health professional, social scientist, philosopher, lawyer, and bioethicist. (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.