Pediatric DTC Genetic Testing for Adult-Onset Inherited Cancer Risk: The Perspectives of High-Risk Parents.

Abstract

Introduction Despite guidelines discouraging pediatric genetic testing for adult-onset hereditary cancer risk, direct-to-consumer (DTC) companies make them available to children's parents. This study examined the perspectives of high-risk parents towards such testing. Methods Interviews were conducted with N=30 parents (children ages 10-21) carrying pathogenic variants in cancer-causing genes available for detection through DTC tests. Interviews were analyzed inductively using a standardized methodology to identify prominent themes. Results Three major themes were identified: 1) high-risk parents' motivations for pediatric genetic testing, 2) risks and benefits of pediatric genetic testing, and 3) parental involvement of children in decision-making about testing. Although only n=5 parents (17% of the sample) reported that their children were genetically tested (n=3 through a DTC company, n=2 through a clinician), 73% endorsed pediatric genetic testing for general health reasons. Many parents (53%) expressed a preference for clinical testing over DTC testing. While parents recognized the limits of DTC testing, some (40%) expressed that it should remain available to high-risk parents for the purpose of identifying cancer risks in their children. Children's maturity (70%), interest in testing (77%), and anticipated responses to testing (43%) were cited as important decisional considerations. Conclusion Few high-risk parents utilized DTC testing for their children. Parents generally preferred the prospect of clinical testing, but some believed DTC testing should be an option available to families. Clinicians should discuss the risks and benefits of pediatric genetic testing, including DTC, with high-risk parents. This may facilitate more informed decision-making that minimizes potential harms.