Non-invasive prenatal testing for single gene disorders: exploring the ethics

Abstract

Non-invasive prenatal testing for single gene disorders is now clearly on the horizon. This new technology offers obvious clinical benefits such as safe testing early in pregnancy. Before widespread implementation, it is important to consider the possible ethical implications. Four hypothetical scenarios are presented that highlight how ethical ideals of respect for autonomy, privacy and fairness may come into play when offering non-invasive prenatal testing for single gene disorders. The first scenario illustrates the moral case for using these tests for 'information only', identifying a potential conflict between larger numbers of women seeking the benefits of the test and the wider social impact of funding tests that do not offer immediate clinical benefit. The second scenario shows how the simplicity and safety of non-invasive prenatal testing could lead to more autonomous decision-making and, conversely, how this could also lead to increased pressure on women to take up testing. In the third scenario we show how, unless strong safeguards are put in place, offering non-invasive prenatal testing could be subject to routinisation with informed consent undermined and that woman who are newly diagnosed as carriers may be particularly vulnerable. The final scenario introduces the possibility of a conflict of the moral rights of a woman and her partner through testing for single gene disorders. This analysis informs our understanding of the potential impacts of non-invasive prenatal testing for single gene disorders on clinical practice and has implications for future policy and guidelines for prenatal care.

An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders

“…We felt it was important to determine how people viewed NIPT outside of the highly emotive situation during a pregnancy, and because the participants were not pregnant, this enabled us to ask more sensitive questions than we would have asked during a current pregnancy. In addition, we asked for their opinions about a hypothetical ethical situation where a father did not wish to have carrier testing, as discussed by Deans et al 19 …”

“…17 It is clear, therefore, that before the full implementation of NIPD into clinical practice, ethical and social issues should be explored. 18 Specific ethical issues around NIPD were outlined in a paper by Deans et al, 19 who used examples to illustrate how the ethical principles of autonomy, privacy and fairness could be at risk with the use of NIPD. Potential ethical concerns included the potential for routinisation and the undermining of informed consent.…”

Non-Invasive Prenatal Testing: Review of Ethical, Legal and Social Implications

“…Some authors argued that public health care systems need to consider the cost implications of offering tests that will not change pregnancy management [19] and the impact of implementing testing "for information only" (with no intention to terminate) [34,51]. Such debates are clearly ethically sensitive because they imply a certain interference with women's reproductive autonomy and free choice regarding why they want information and how they will manage their pregnancy based on a (potentially) positive result from the test.…”

“…While the invasiveness and risk of miscarriage associated with current diagnostic testing prevent the expansion of its uptake for a wider range of conditions, NIPT's capacity to offer genetic information in a safe and easy manner is anticipated to lower the threshold of testing, i.e., to encourage women to consider prenatal testing as appropriate for less severe conditions and even for non-medical reasons [34,50,51]. It is thus argued that in the future, expanding the scope of NIPT could generate large amounts of information regarding late onset diseases (e.g., Huntington's), predispositions to severe and common diseases (e.g., breast cancer and diabetes), minor abnormalities [52][53][54], and ISSN 1923-2799 6 / 14 even non-medical information (e.g., paternity) and physical traits (e.g., eye colour).…”

Moral Responsibility in the Context of Prenatal Testing: What can be Expected?

“…Meanwhile, notions of community, common good, public interest, responsibility, and duties to others are given little attention [6]; and recent bioethics literature on prenatal testing and reproductive autonomy is no exception. While numerous authors have explored the ethical aspects of the newest prenatal testing technology (cellfree fetal DNA testing), emphasis seems to be most often placed on those ethical dimensions that pertain to the individual, such as the need for thorough counselling about risks and benefits, informed consent, social or medical pressure on individuals to test, as well as equity in access and regulation issues pertaining to direct-to-consumer use [1,[7][8][9][10][11][12]. Except from proponents of the disability rights critique, social concerns such as the above-mentioned ones have seemingly been given less attention.…”