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)

This paper examines some ethical issues arising from whole-genome association studies for multigenic diseases, focusing on the case of autism. Events occurring following the announcement of a genetic test for autism in France (2005–2009) are described to exemplify the ethical controversies that can arise when genetic testing for autism is applied prematurely and inappropriately promoted by biotech companies. The authors argue that genetic tests assessing one or a few genes involved in highly multigenic disorders can only be useful if: (1) (...) the genetic linkage found in the scientific study must be statistically convincing, reproducible and also applicable to the population to which the individual considered belongs (scientific validity); (2) the relative risk conferred by the ‘high-risk’ allele should be high enough to be significant to the patient (significant impact); (3) use of the test should lead to some improvement of outcome for the patient, resulting from adapted treatment if available, or at least from adjustment of lifestyle (or life goals) prompted by the new knowledge generated (clinical utility). Decisions concerning genetic testing for autism involve scientific judgement, value judgement and good knowledge of a constantly evolving therapeutic environment. The implementation of genetic tests for highly multigenic diseases thus requires strong mechanisms to ensure that they are used in a fashion that can benefit patients, and these mechanisms must be able to cope with rapid progress in scientific knowledge and therapeutic intervention. (shrink)

Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk-assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery. Recent (...) developments in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non-invasive prenatal testing that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable. This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent ‘reproductive autonomy’ is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy-related problems, non-directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue. (shrink)

Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk‐assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery.Recent developments (...) in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non‐invasive prenatal testing (NIPT) that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable.This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent ‘reproductive autonomy’ is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy‐related problems, non‐directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue. (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)

Recent scientific advances mean the widespread introduction of non-invasive prenatal diagnosis (NIPD) for chromosomal aneuploidies may be close at hand, raising the question of how NIPD should be introduced as part of antenatal care pathways for pregnant women. In this paper, the authors examine the ethical implications of three hypothetical models for using NIPD for aneuploidy in state-funded healthcare systems and assess which model is ethically preferable. In comparing the models, the authors consider their respective timings; how each model would (...) fit with current screening and diagnostic tests offered to pregnant women; the implications of offering NIPD at different stages of pregnancy; and the potential for each model to support reproductive autonomy and informed decision-making. The authors conclude by favouring a model that would be offered at 11–13 weeks gestation, alongside existing combined screening, provided that this is accompanied by measures to maximise informed decision-making, for example, provision of adequate pretest and post-test counselling. (shrink)

The sources, extent and margins of parental obligations in taking decisions regarding their children’s medical care are subjects of ongoing debates. Balancing children’s immediate welfare with keeping their future open is a delicate task. In this paper, we briefly present two examples of situations in which parents may be confronted with the choice of whether to authorise or demand non-therapeutic interventions on their children for the purpose of fertility preservation. The first example is that of children facing cancer treatment, and (...) the second of children with Klinefelter syndrome. We argue that, whereas decisions of whether to preserve fertility may be prima facie within the limits of parental discretion, the right to an open future does not straightforwardly put parents under an obligation to take actions that would detect or relieve future infertility in their children—and indeed in some cases taking such actions is problematic. (shrink)

The neurological and psychological traits that regulate our thought and behavior fall along a spectrum that extends from the normal to the pathological, from traits that enable us to perform mental and physical functions to traits that interfere with these functions. Yet many people have a constellation of both normal and pathological mental traits. Some even have traits associated with exceptional intellectual or artistic ability despite being diagnosed as having a neurological or psychiatric disorder. These cases raise medical, ethical and (...) legal questions about which conditions should be diagnosed as mental disorders or pathologies, and whether it is always in one’s best interests to be treated for these conditions. (shrink)