Non-Invasive Prenatal Testing for "Non-Medical" Traits: Ensuring Consistency in Ethical Decision-Making.

The scope of noninvasive prenatal testing (NIPT) could expand in the future to include detailed analysis of the fetal genome. This will allow for the testing for virtually any trait with a genetic contribution, including "non-medical" traits. Here we discuss the potential use of NIPT for these traits. We outline a scenario which highlights possible inconsistencies with ethical decision-making. We then discuss the case against permitting these uses. The objections include practical problems; increasing inequities; increasing the burden of choice; negative impacts on the child, family, and society; and issues with implementation. We then outline the case for permitting the use of NIPT for these traits. These include arguments for reproductive liberty and autonomy; questioning the labeling of traits as "non-medical"; and the principle of procreative beneficence. This summary of the case for and against can serve as a basis for the development of a consistent and coherent ethical framework.

Sex selection and non-invasive prenatal testing: A review of current practices, evidence, and ethical issues.

Non-invasive prenatal testing (NIPT) can determine the sex of the fetus very accurately and very early in gestation. There are concerns that the ease, timing, and accuracy of NIPT sex determination will facilitate sex-selective termination of pregnancy (TOP). Here, we review current practices, the evidence for a link between NIPT and sex-selective TOP, and associated ethical issues. Sex-selective TOP, usually motivated by son preference, has had serious demographic consequences in countries such as India and China. Currently, ultrasound is the primary method by which parents determine the sex of the fetus. The diffusion of ultrasound technology has had a direct impact on the rates of sex-selective TOP. Although NIPT is currently more costly, it is feasible that increased uptake of this technology could have a similar effect. Partly because NIPT is a relatively recent development in prenatal screening, there is little data on the impact of NIPT on sex selection practices. Evidence that NIPT is playing a role in sex-selective TOP remains largely anecdotal. Further research is required to assess and quantify TOP resulting from NIPT sex determination. The use of these technologies for sex selection raises a number of ethical issues, in addition to practical demographic consequences.

'Small cost to pay for peace of mind': Women's experiences with non-invasive prenatal testing.

BACKGROUND: Non-invasive prenatal testing (NIPT) has been available in Australia on a user-pays basis since 2012. Since its introduction, it has grown in popularity as a screening method for fetal aneuploidy and may become publicly funded. AIMS: To assess the motivations and experiences of women who have undergone NIPT in a user-pays system in Australia. MATERIALS AND METHODS: One thousand women who had undergone NIPT through the Victorian Clinical Genetics Services in Melbourne, Australia were contacted and asked to complete a mixed-methods survey. The number of eligible responses received was 235. Quantitative data analysis was performed in STATA IC 15.1, and qualitative data were examined using content analysis. RESULTS: Women reported generally positive experiences with NIPT and 95% of respondents indicated they would undergo NIPT in a future pregnancy. Most respondents received a low-risk result, with 2.2% receiving a high-risk result. Respondents viewed NIPT favourably compared to invasive testing and cited reassurance as a key reason they sought it. However, a small minority of women reported negative experiences with the testing process. Women were also supportive of NIPT becoming publicly funded, with 93% of respondents indicating support. Pre- and post-test counselling were identified as possible areas for improvement to ensure informed consent. CONCLUSION: In support of the existing literature, these results indicate that Australian women generally report positive experiences with NIPT. As NIPT becomes more common, with possible integration into public healthcare, further qualitative research would be valuable to examine the motivations and experiences of women undergoing NIPT.

'Is it better not to know certain things?': views of women who have undergone non-invasive prenatal testing on its possible future applications.

Non-invasive prenatal testing (NIPT) is at the forefront of prenatal screening. Current uses for NIPT include fetal sex determination and screening for chromosomal disorders such as trisomy 21 (Down syndrome). However, NIPT may be expanded to many different future applications. There are a potential host of ethical concerns around the expanding use of NIPT, as examined by the recent Nuffield Council report on the topic. It is important to examine what NIPT might be used for before these possibilities become consumer reality. There is limited research exploring views of women on possible future uses of NIPT, particularly those of women who have undergone NIPT. In this study, we examined the views of women who undertook NIPT previously on the acceptability of and interest levels in using NIPT for a number of current and possible future applications. These included several medical conditions encompassing psychiatric, neurodevelopmental and adult-onset conditions as well as non-medical traits such as intelligence. One thousand women were invited to participate and 235 eligible surveys were received. Women generally reported an interest in using NIPT for medical conditions that severely impacted quality of life and with an onset earlier in life and stressed the importance of the accuracy of the test. Concerns were raised about the use of NIPT for non-medical traits. Respondents indicated that termination of pregnancy was not their only reason for testing, particularly in the case of sex. These results can further inform the ethical debate around the increasing integration of NIPT into healthcare systems.

"I'm scared of being like mum": The Experience of Adolescents Living in Families with Huntington Disease.

BACKGROUND: The debilitating and very visible motor effects of the incurable, progressive, and fatal neurodegenerative condition Huntington disease (HD) are accompanied by more insidious cognitive, behavioural and personality disturbance. The usual age of HD onset exposes children and adolescents to the natural history of the condition as it affects a parent. This group of young people has been largely overlooked in most research, which has concentrated upon the experiences of affected individuals and their partners. OBJECTIVE: This study explores the psychosocial context of young people living in families affected by HD, to better understand their experiences and the specific challenges they face. METHOD: Ten young people from five unrelated families affected by HD separately participated in semi-structured individual interviews. At the time of interview, nine were less than 18 years of age, and none had requested a predictive genetic test. RESULTS: The young people demonstrated a depth of insight in their descriptions of complex and often painful family circumstances. In addition to the tasks and challenges associated with typical adolescent development, young people from families affected by Huntington disease recognize that they face greater responsibilities and stresses. CONCLUSION: This study highlights areas of unmet needs for young people living in families affected by HD. Best practice HD care should include consideration of the needs of young people in the family, and offer developmentally appropriate HD education, prospective orientation to genetic services, and psychological and social support.

"It was the missing piece": adolescent experiences of predictive genetic testing for adult-onset conditions.

PURPOSE: Predictive genetic testing for adult-onset conditions, such as Huntington disease, is available to at-risk adults. Guidelines consistently recommend against such testing before adulthood unless there is associated medical benefit. Guidelines, and related commentary, cite a range of potential harms that might be associated with young people undergoing testing, yet evidence is limited. Clinical practice has forged ahead, with research demonstrating that some clinicians are making their own determinations about the best interests of individual young people and are providing testing in specific cases. For the first time, this study reports empirical evidence concerning the process and impacts of predictive testing in mature minors for adult-onset conditions where no medical benefit exists. METHODS: First-hand accounts from nine young people have been documented. All were aged 16 or 17 years of age when tested. Six tested gene positive. RESULTS: Contrary to existing assumptions, the results convey a range of benefits and absence of harms flowing from testing. Some individuals reported considerable distress associated with institutional processes before testing. CONCLUSION: The results highlight that young people from families affected by genetic conditions might possess task-specific competence relating to decision making about predictive testing. Further research and longer-term follow-up is required to study the outcomes of testing in young people.

Predictive genetic testing in minors for late-onset conditions: a chronological and analytical review of the ethical arguments.

Predictive genetic testing is now routinely offered to asymptomatic adults at risk for genetic disease. However, testing of minors at risk for adult-onset conditions, where no treatment or preventive intervention exists, has evoked greater controversy and inspired a debate spanning two decades. This review aims to provide a detailed longitudinal analysis and concludes by examining the debate's current status and prospects for the future. Fifty-three relevant theoretical papers published between 1990 and December 2010 were identified, and interpretative content analysis was employed to catalogue discrete arguments within these papers. Novel conclusions were drawn from this review. While the debate's first voices were raised in opposition of testing and their arguments have retained currency over many years, arguments in favour of testing, which appeared sporadically at first, have gained momentum more recently. Most arguments on both sides are testable empirical claims, so far untested, rather than abstract ethical or philosophical positions. The dispute, therein, lies not so much in whether minors should be permitted to access predictive genetic testing but whether these empirical claims on the relative benefits or harms of testing should be assessed.