Original research articlePredictive genetic testing for adult-onset conditions, such as Huntington disease (HD) and some familial cancers, is available to adults at risk. Conversely, there is ongoing controversy with regard to testing young people, specifically those younger than 18 years, who are at risk for adult-onset genetic conditions for which there are no effective medical interventions available before adulthood.International guidelines recommend that testing be deferred until an individual is competent to make an informed, autonomous decision regarding testing. [1][2][3][4][5] Recently revised guidelines specific to the testing of HD recommend that predictive testing not take place until an individual reaches the age of majority. 6,7 More than two decades since the publication of the first guidelines, considerable disagreement between commentators remains. 8 The ethical debate concerning predictive genetic testing in young people has become mired in a conflicting set of opinions, assumptions, and speculation, with little relevant evidence to inform these. 9 Two overarching concerns dominate the arguments against predictive genetic testing in young people: (i) young people lack the competence to comprehend the significance of a predictive genetic test and may regret their decision later in life, and (ii) young people who receive a gene-positive test result (the presence of the relevant family mutation) are at risk of adverse psychosocial consequences. This debate is situated within a context of knowledge that most adults at risk for HD choose not to undergo predictive genetic testing. 10 There have been numerous studies reporting the effects of predictive testing for childhood-onset conditions such as familial adenomatous polyposis 11-14 and the effects of predictive testing in adults for adult-onset conditions. 15-21 Conversely, few studies have examined the impact of testing on young people, and none have specifically considered minors tested for adult-onset conditions. An international survey in 2005 showed that some clinicians are providing predictive tests to minors in particular circumstances; 22 however, the outcomes are poorly studied.The current study aimed to (i) gauge the impact on young people of predictive testing before 18 years, (ii) identify factors that mediate the testing experience, and (iii) assess whether evidence exists to support the central concerns raised in the existing literature with respect to testing young people. The study addressed only self-initiated requests by adolescents, not young children. METHODSParticipants were recruited from two Australian states. At the time of data collection, 10 individuals had undergone predictive testing for an adult-onset condition before the age of 18 years in these two states. Nine agreed to participate. The tenth was unable to do so because he was traveling.In one state, all the young people had instigated testing by requesting a test themselves. In the other state, some young people received a letter outlining testing options for them. ...

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.

BackgroundNon‐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.AimsTo assess the motivations and experiences of women who have undergone NIPT in a user‐pays system in Australia.Materials and methodsOne 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.ResultsWomen 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.ConclusionIn 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.