Attitudes toward clinical genetic testing and data sharing among adolescents and young adults with congenital heart disease.
OBJECTIVE Describe the attitudes and preferences of adolescents and young adults (AYAs) with congenital heart disease (CHD) toward clinical genetic testing and sharing their genetic data for research. METHODS We conducted interviews (n = 20) with AYA patients ages 15-21 years, diagnosed with CHD, who provided age-appropriate assent with parental permission or consent. Interviews were analyzed using analytic memos and applied thematic analysis. RESULTS We found three overarching themes. First, AYAs viewed genetic testing as a tool for understanding and preparing for life with CHD. AYAs thought genetic testing might help them identify the etiology of their CHD and plan for long-term health-related needs. Second, AYAs described balancing concerns about CHD heritability with desires for parenthood. They perceived that genetic testing would clarify CHD transmission and inform their reproductive decisions. Third, AYAs expressed willingness to share genetic data with appropriate consent and privacy protections. AYAs were altruistically motivated to share their data to advance science and help others with CHD, though they desired active inclusion in decision-making given their concerns about data confidentiality and misuse. CONCLUSION AYAs had positive attitudes toward genetic testing and data sharing and preferred to assume active, autonomous decision-making roles in research participation. Our results highlight opportunities to address the genetic educational needs of AYAs with CHD regarding current and future implications of genetic testing, particularly around family planning. PRACTICE IMPLICATIONS Pediatric-to-adult care transition programs for AYAs with CHD should include genetic counseling and education tailored to their motivations and concerns, including potential family impact and data governance.