Views and preferences for the implementation of non‐invasive prenatal diagnosis for single gene disorders from health professionals in the united kingdom

Abstract

Non-invasive prenatal diagnosis (NIPD) will offer new options in prenatal diagnosis for carriers of single gene disorders. This will affect carrier couples and health professionals involved in prenatal care. The aim of this study was to determine health professional opinions on NIPD for single gene disorders to guide development of infrastructure required for implementation. A qualitative approach was adopted using focus groups (N = 17) and one-to-one interviews (N = 30) with health professionals from a range of backgrounds involved in caring for carriers of single gene disorders. Data were digitally recorded, transcribed verbatim and analyzed using thematic analysis. Participants were very positive about the introduction of NIPD, describing benefits arising from no risk of miscarriage, earlier testing and a simple procedure. A number of concerns for implementation were raised. Participants emphasized the need for the new test to be highly accurate and thoroughly validated. There was concern that people may not give as much thought to having a blood test compared to an invasive test or that it may be viewed as routine and as such NIPD may negatively impact on informed consent. In addition there was concern that the simplicity of a blood test may lead to increased pressure to test and terminate. However, participants felt these concerns could be overcome with thorough pre- and post-test counseling. To ensure high quality care, offering NIPD through genetics or other specialist services is essential. Ongoing education and training of health professionals will be important, and guidelines and regulation are needed for effective implementation.

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

“…14,15 While service users cite the earlier timing of the test and safety for the fetus 16 as major advantages of NIPD, health professionals were positive, but expressed reservations such as concerns about informed consent and potential 'routinisation' of a test that can be done on a 'simple' blood test. 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.…”

Media portrayal of non-invasive prenatal testing: a missing ethical dimension

“…First, there are concerns stemming from the potential routine use of NIPT in prenatal care and the threats this routinization may pose to reproductive autonomy. In the absence of risk to the pregnancy, clinicians may see counseling and informed consent as less important than for invasive testing [van den Heuvel et al, 2010;Deans and Newson, 2011;Hill et al, 2013], as is currently the case regarding non-invasive screening tests [Seavilleklein, 2009;Kellogg et al, 2014]. Routinization may also increase pressure on women to test, thus limiting -rather than promoting -their liberty to choose [Lewis, Silcock and Chitty, 2013].…”

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

“…In the early papers that discussed it as a diagnostic test, it was suggested that access to genetic information in the first trimester would allow women and their families more time to make a decision regarding their pregnancy management: to prepare for the birth of a child with special needs or to make a decision regarding termination of pregnancy [33]. For those who decided to terminate, NIPT would allow an earlier termination, making it medically safer and allowing it to occur when maternal-fetal attachment might be less established and when the pregnancy was not yet socially visible [27,34].…”

“…argued that NIPT significantly modified the decision-making context and might increase the pressure on women by leaving them with "no reasonable argument" for rejecting the test [27,33,34,36,39].…”