Non-invasive prenatal testing: beyond clinical utility

© 2021 Hilary Fay Janet Bowman-SmartNon-invasive prenatal testing (NIPT) is a method of prenatal screening that became available in approximately 2011. It uses fetal DNA in the maternal bloodstream to screen for various genetic conditions, such as trisomy 21. It can also be used for single-gene disorders, microdeletions, and fetal sex determination. In Australia it costs A$400–500, although it is publicly funded in some countries, for example, Belgium. The technology of NIPT is developing rapidly and its scope may widen. This may allow for NIPT to screen for traits that may be considered “non-medical” or have no “clinical utility”, such as height or cognitive ability. However, concepts such as “clinical utility” are ill-defined and frequently misused. We need a clear ethical framework on how to address future possible uses of NIPT. I use an empirical bioethics approach based on normative reflective empirical equilibrium, where the moral intuitions from agents with “moral wisdom” stemming from personal experience, and morally relevant facts, are collected through empirical data. Such agents have used NIPT. To inform my ethical analysis, I used NIPT sex determination as a case study, as it is a non-medical trait that is already widely screened for through NIPT. One of the key ethical concerns about NIPT sex determination is that it may lead to sex-selective termination of pregnancy (SSTOP). I performed a review of the evidence linking NIPT to SSTOP, and found the evidence to be largely anecdotal. I then performed a critical interpretive review of the ethical literature relating to NIPT sex determination and SSTOP and identified five key areas of ethical debate: methods of sex selection; consequences of sex selection; concerns relating to intrinsic wrongs; freedom, liberty, and choice; and finally, the framing of SSTOP practices. I then designed a mixed-methods survey that aimed to assess the motivations, experiences, and attitudes of people who have used NIPT in Australia towards its use for sex determination and selection. Through social media recruitment, I received 1,228 responses. Many respondents indicated that they had strong preferences around NIPT sex determination. Respondents had nuanced views on the concepts of sex and gender, exploring how patriarchy and misogyny affects parenting different sexes. There were generally negative views towards SSTOP. Some respondents who did not want to determine the fetal sex described how it has essentially become “routinised”, with implications for clinical practice. The empirical data from the survey then informed an ethical analysis where I describe how NIPT inhabits an uneasy space between the personal and medical domains, and the prospective parent(s) as “consumer” or “patient”. I argue that future possibilities of NIPT should be evaluated with the primary goal of maximising personal utility, which involves many elements, including improving wellbeing and informing reproductive choice. Thus, NIPT sex determination should be available. Further directions include establishing a firmer evidence base for the ethical debate, and further developing this ethical framework to include a deeper understanding of personal utility and how it can be evaluated