572 - “Why Was I Born with It?” Ethical Implications of Genetic Testing and Data Sharing in Youth with Congenital Heart Disease

Publication Number: 572.3675

Tiffany (Thu) N. Nguyen, University of Utah School of Medicine, West Haven, UT, United States; Ritika Nayan, University of Utah School of Medicine, Lehi, UT, United States; Katherine C. Boyce, University of Utah School of Medicine, Salt Lake City, UT, United States; Ian Lindsay, University of Utah School of Medicine, Salt Lake City, UT, United States; Erin Rothwell, University of Utah, Salt Lake City, UT, United States; Nelangi Pinto, Seattle Children's, Seattle, WA, United States; Angie Fagerlin, University of Utah, Salt Lake City, UT, United States; Rebecca Delaney, University of Utah, Salt Lake City, UT, United States

Background: Due to medical advances, more adolescents with congenital heart disease (CHD) are now reaching adulthood. The Congenital Heart Futures Reauthorization Act of 2024 (H.R. 7189) underscores the significant need to better understand CHD across the lifespan, particularly regarding its causes, healthcare utilization, and long-term health outcomes. Identifying genetic causes to CHD are a promising avenue for determining inheritance patterns and provide information for family planning. As genetic testing for CHD improves and becomes more common, it is crucial to explore the attitudes, preferences, and ethical considerations of adolescents and young adults (AYAs) with CHD.

Objective: The goal of this qualitative study was to understand AYA’s preferences about genetic testing, data sharing, and information privacy as they begin making their own healthcare decisions.

Design/Methods: Participants between 15 and 21 years old with CHD were recruited for the study. In semi-structured virtual interviews, participants were asked about their ethical preferences (e.g., genetic testing, consent to data registries and research studies) in relation to their CHD. These audio-recorded interviews were then transcribed, coded using NVivo software, and analyzed to identify emerging themes.

Results: The study included 20 participants, split evenly between 10 adolescents ( < 18 years old) and 10 young adults (≥18 years old). The median age was 17.5 years, with 55% identifying as female, 70% as Non-Hispanic White, 25% as Hispanic, and 5% as biracial. The majority of AYAs favorably viewed genetic testing as a way to inform family planning decisions, enhance financial preparation, reduce uncertainty, and help others. Most AYAs supported the use of their health information and data in research to improve knowledge about and help others with CHD. However, they preferred to consent before their data is used for other purposes and expressed the importance of privacy and confidentiality with medical information and data.

Conclusion(s): AYAs with CHD were interested in genetic testing; therefore, as genetic testing for CHD expands, it’s crucial to develop tools to educate AYAs on obtaining these tests and understanding heritability implications. Maintaining data safety, monitoring, and consent protocols will address their concerns about health information use.