The attitudes of individuals with or at risk of adult-onset genetic conditions on reproductive genetic testing: A systematic review

Individuals who carry a genetic variant for a genetic disease can access reproductive genetic testing in order to prevent the transmission of the gene variant to their children. This systematic review aimed to synthesize the findings from both qualitative and quantitative literature to understand these individuals' attitudes toward pre-implantation genetic testing (PGT) and prenatal testing (PNT) and how they make decisions around them. A systematic search was undertaken following PRISMA guidelines, with 37 articles meeting the inclusion criteria for evaluating experiences and attitudes of individuals with or at risk of adult-onset genetic conditions on reproductive genetic testing. Relevant findings from each study were included in a thematic synthesis. Five analytical themes were generated to elucidate the attitudes toward reproductive genetic testing and the factors that impact decision-making in individuals with or at risk of late-onset genetic diseases: (1) Preventing gene transmission; (2) finding the threshold: evaluating the necessity of reproductive genetic testing; (3) ethical/acceptability considerations; (4) external influences in decision-making; and (5) psychological and practical concerns of reproductive genetic testing. This review highlights several factors that influence attitudes toward reproductive genetic testing. Complex decision-making was a cross-cutting experience that characterizes and defines reproductive genetic testing for late-onset conditions. There was a general consensus of support for reproductive genetic testing and a belief that it should be available to all. The need for awareness and education on reproductive genetic testing is evident. Future work should look at how to address these knowledge deficits, while exploring individuals' preferences for when and by whom information is delivered. Acknowledging the complexity of decision-making can encourage meaningful discussions and address potential issues.