Health Behaviors Amongst Unaffected Participants Following Receipt of Variants of Uncertain Significance in Cardiomyopathy-Associated Genes

PURPOSE: Studies on returning variants of uncertain significance (VUS) have predominantly included patients with a personal or family history of cancer and cancer-associated gene VUS. This study examined health behaviors amongst participants with cardiomyopathy-associated gene VUS, but without a personal history of cardiomyopathy. METHODS: Sixty-eight eligible participants without apparent cardiomyopathy who received VUS in cardiomyopathy-associated genes completed a survey of health behaviors, disclosure, distress, uncertainty, positive experiences, decisional conflict, and perceived value. Medical records of participants who reported cardiac testing because of their VUS were reviewed for testing indication(s). RESULTS: Two participants had cardiac testing due to their VUS alone. Four had cardiac testing because of their VUS and other clinical indications and 12 changed health behaviors, including one participant who was subsequently diagnosed with cardiomyopathy. Distress, uncertainty, and decisional conflict were low (means= 1.2, 4.2, 24.5; scale ranges= 0–30, 0–45, 15–75, respectively), and positive experiences and perceived value were moderate (means= 12.4, 14.4; scale range= 0–20, 4–20, respectively). Greater perceived value was associated with greater likelihood to engage in health behaviors (p= 0.04). CONCLUSION: VUS can be returned to apparently unaffected individuals with modest use of healthcare resources, minimal behavioral changes, and favorable psychological reactions.