Governing the futures of non-invasive prenatal testing: An exploration of social acceptability using the Delphi method

Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) offers numerous benefits to pregnant women and their families. It also raises ethical, legal and social concerns regarding, for instance, the possible effects of a routinization of prenatal genetic testing on free and informed decision-making by prospective parents, and the role of the state in governing its use. Technological advances are allowing cfDNA analyses to detect an increasing number of genetic risks and conditions in the fetus, potentially further exacerbating such concerns. From May 2015 to December 2016, we conducted a three-round Policy Delphi study (N-R1 = 61, N-R2 = 58, N-R3 = 47; overall retention rate = 77.0%) to explore the social acceptability (SA) of current and potential future uses of NIPT in Canada according to participants with relevant professional, research or advocacy expertise. Participants came from four groups: healthcare professionals (N-R3 = 14), social sciences and humanities researchers (N-R3 = 13), patients/disability rights advocates (N-R3 = 14), and cultural/religious communities advocates (N-R3 = 6). This paper presents SA criteria and contextual contingencies relevant to the assessment of NIPT's SA according to the group. It also reports what uses (conditions or motives) participants thought should be banned, permitted, publicly funded, or promoted as a public health strategy. According to them, conditions resulting in severe pain or early death, as well as trisomies (13, 18, 21) and sex chromosome abnormalities, should be covered by Canadian public health insurance. However, there was wide agreement that direct-to-consumer NIPT should be legally banned, and that testing for fetal sex for non-medical reasons using NIPT should be either proscribed or discouraged. In addition to identifying areas of consensus, our results point to disagreement regarding, for instance, the required level of governance of whole-genome sequencing and testing for late onset conditions with low penetrance. This study also provides a model for exploring the SA of emerging technologies using the Policy Delphi method.

Automated summary

Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) offers significant benefits and raises ethical, legal, and social concerns. A study conducted in Canada from 2015 to 2016 explored the social acceptability of NIPT, revealing both areas of consensus and areas of disagreement.