Ainsley J. Newson

Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals

OBJECTIVE Informed choice is a fundamental concept within prenatal care. The present study assessed the extent to which the introduction of non-invasive prenatal diagnosis (NIPD) of Downs syndrome may undermine the process of making informed choices to undergo prenatal testing or screening for Downs syndrome by altering the quality and quantity of pre-test counselling. METHODS 231 obstetricians and midwives were randomly allocated one of three vignettes, each describing a different type of test: (a) invasive prenatal diagnosis (IPD), (b) non-invasive prenatal diagnosis (NIPD) or (c) Downs syndrome screening (DSS). Participants were then asked to complete a questionnaire assessing (1) the information considered important to communicate to women, (2) whether test offer and uptake should take place on different days, and (3) whether signed consent forms should be obtained prior to testing. RESULTS Across the three test types, five out of the seven presented topics were considered equally important to communicate, including the information that testing is the womans choice. Compared with participants receiving the IPD vignette, those receiving the NIPD and DSS vignettes were less likely to report that counselling and testing should occur on different days (IPD 94.7% versus 74.1% and 73.9% for NIPD and DSS respectively, p=.001) and that written consent was a necessity (IPD 96.1% versus 68.3% and 75.4% for NIPD and DSS respectively, p<.001). CONCLUSION This study provides the first empirical evidence to demonstrate that practitioners may view the consent process for NIPD differently to IPD. There is potential for the introduction of NIPD to undermine women making informed choices in the context of prenatal diagnostic testing for conditions like DS. PRACTICE IMPLICATIONS Given the importance of informed choice in reproductive decision-making, implementation of any programme based on NIPD should be designed to facilitate this.

Cascade testing in Familial Hypercholesterolaemia: how should family members be contacted?

Cascade testing or screening provides an important mechanism for identifying people at risk of a genetic condition. For some autosomal dominant conditions, such as familial hpercholesterolaemia (FH), identifying relatives allows for significant health-affecting interventions to be administered, which can extend a persons life expectancy significantly. However, cascade screening is not without ethical implications. In this paper, we examine one ethically contentious aspect of cascade screening programmes, namely the alternative methods by which relatives of a proband can be contacted. Should the proband be invited to contact his or her family members, or should the screening programme contact family members directly? We argue that direct contact is an ethically justifiable method of contact tracing in cascade screening for FH. Not only has this method already been utilised without adverse effects, an examination of the ethical arguments against it shows these are unsubstantiated. We describe several criteria that, if met, will allow an appropriate balance to be struck between maximising the efficiency of family tracing and respecting the interests of probands and their relatives.

Should Non-Invasiveness Change Informed Consent Procedures for Prenatal Diagnosis?

Empirical evidence suggests that some health professionals believe consent procedures for the emerging technology of non-invasive prenatal diagnosis (NIPD) should become less rigorous than those currently used for invasive prenatal testing. In this paper, we consider the importance of informed consent and informed choice procedures for protecting autonomy in those prenatal tests which will give rise to a definitive result. We consider whether there is anything special about NIPD that could sanction a change to consent procedures for prenatal diagnosis or otherwise render informed decision-making less important. We accept the claim that the absence of risk of miscarriage to some extent lessens the gravity of the decision to test compared with invasive methods of testing. However, we also claim that the definitive nature of the information received, and the fact that the information can lead to decisions of great significance, makes NIPD an important choice. This choice should only be made by means of a rigorous and appropriately supported decision-making process (assuming that this is what the pregnant woman wants). We conclude that, on balance, consent procedures for NIPD should mirror those for invasive testing, albeit without the need to emphasise procedure-related risk.

Ethical considerations for choosing between possible models for using NIPD for aneuploidy detection

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.

Prenatal Diagnosis and Abortion for Congenital Abnormalities: Is It Ethical to Provide One Without the Other?

This target article considers the ethical implications of providing prenatal diagnosis (PND) and antenatal screening services to detect fetal abnormalities in jurisdictions that prohibit abortion for these conditions. This unusual health policy context is common in the Latin American region. Congenital conditions are often untreated or under-treated in developing countries due to limited health resources, leading many women/couples to prefer termination of affected pregnancies. Three potential harms derive from the provision of PND in the absence of legal and safe abortion for these conditions: psychological distress, unjust distribution of burdens between socio-economic classes, and financial burdens for families and society. We present Iran as a comparative case study where recognition of these ethical issues has led to the liberalization of abortion laws for fetuses with thalassemia. We argue that physicians, geneticists and policymakers have an ethical and professional duty of care to advocate for change in order to ameliorate these harms.

Clinical ethics consultation in Europe: a comparative and ethical review of the role of patients

Clinical ethics has developed significantly in Europe over the past 15 years and remains an evolving process. While sharing our experiences in different European settings, we were surprised to discover marked differences in our practice, especially regarding the position and role of patients. In this paper, we describe these differences, such as patient access to and participation or representation in ethics consults. We propose reasons to explain these differences, hypothesizing that they relate to the historic and sociocultural context of implementation of clinical ethics consultation services (Cecs), as well as the initial aims for which each structure was established. Then, we analyse those differences with common ethical arguments arising in patient involvement. We conclude that there is no unique model of best practice for patient involvement in clinical ethics, as far as Cecs reflect on how to deal with the challenging ethical issues raised by patient role and position.

Reforming research ethics committees

Latest proposals are a missed opportunity for a radical review

Is informed choice in prenatal testing universally valued? A population‐based survey in Europe and Asia

Objective  Informed choice has become an integral part of healthcare provision. We investigated the extent to which informed choice in the context of prenatal testing is universally valued.

Should Parental Refusals of Newborn Screening Be Respected

This is a pre-copyedited, author-produced PDF of an article accepted for publication in Cambridge Quarterly of Healthcare Ethics following peer review. The definitive publisher-authenticated version [Newson, A.J. (2006) “Should parental refusals of newborn screening be accepted?”, 15(2): 135-146.] is available online at http://journals.cambridge.org/action/displayAbstract?fromPage=online&aid=406388&fileId=S0963180106060166

Known unknowns: building an ethics of uncertainty into genomic medicine

BackgroundGenomic testing has reached the point where, technically at least, it can be cheaper to undertake panel-, exome- or whole genome testing than it is to sequence a single gene. An attribute of these approaches is that information gleaned will often have uncertain significance. In addition to the challenges this presents for pre-test counseling and informed consent, a further consideration emerges over how - ethically - we should conceive of and respond to this uncertainty. To date, the ethical aspects of uncertainty in genomics have remained under-explored.DiscussionIn this paper, we draft a conceptual and ethical response to the question of how to conceive of and respond to uncertainty in genomic medicine. After introducing the problem, we articulate a concept of ‘genomic uncertainty’. Drawing on this, together with exemplar clinical cases and related empirical literature, we then critique the presumption that uncertainty is always problematic and something to be avoided, or eradicated. We conclude by outlining an ‘ethics of genomic uncertainty’; describing how we might handle uncertainty in genomic medicine. This involves fostering resilience, welfare, autonomy and solidarity.ConclusionsUncertainty will be an inherent aspect of clinical practice in genomics for some time to come. Genomic testing should not be offered with the explicit aim to reduce uncertainty. Rather, uncertainty should be appraised, adapted to and communicated about as part of the process of offering and providing genomic information.