Motivations for pursuing multiple genetic risk assessments and responses to receiving identical risk results

Genetic testing is increasingly used to identify people at increased risk for future health conditions. As clinical practice guidelines and science evolve, undergoing repeat genetic counseling and potentially repeat testing may be beneficial to receive updated recommendations. Yet, it remains unclear why people would consent to additional testing after receiving results from prior testing. We conducted semi-structured interviews with 17 participants from a national genomics study who had received a high-risk result from prior genetic testing to explore their motivations for participating in additional and potentially repetitive genetic tests. Interviews were audio-recorded, transcribed, and anonymized. Using consensus-based coding, two team members conducted reflexive thematic analysis. Final themes were identified through a recursive process. Participants valued genetic testing as a tool to learn information about future health risks that is otherwise inaccessible or unknown to them. They were inclined to participate to verify that no new risks had emerged and that their risk management actions were appropriate. They acknowledged the evolving genetic landscape, with a few saying they received updated medical recommendations based on their known risk from the genomics study. Most felt relief after receiving the same test results, serving as validation that they are on the "right path" to maintaining their health. This study illustrates that people may engage in additional genetic testing to cope with downstream effects of having an increased risk. Genetic counselors and clinicians should take care to acknowledge the evolving genetic landscape in early and ongoing conversations with their patients and discuss the importance of sustained genetic counseling.