Outcomes from a Novel Approach to Studying Consumer Genetic Testing for Germline Cancer and Cardiovascular Risk

Despite the growing availability of consumer genetic testing for serious disease risks, outcomes data remain limited for individuals undergoing testing for high- and moderate-penetrance genes. To address this gap, we evaluated the feasibility of the Consumer Genetic Testing Outcomes Evaluation Paradigm (CGT-OEP), a novel approach for studying cognitive, affective, and behavioral outcomes in individuals pursuing physician-mediated genetic testing. We recruited participants to purchase Color Health's genetic test for cancer and cardiovascular disease risk. Participants completed Baseline (T0), Pre-Disclosure (T1), and Two-Week Post-Disclosure (T2) surveys and shared results with the study team. Of 185 consented participants, 105 (56.8%) purchased tests, with 103 (98.1%) completing all requirements. Purchasers were predominantly white (89%), female (73%), and college-educated (80%). Participants reported high satisfaction and minimal negative emotions, uncertainty, or decisional regret; most (n = 67, 65%) planned to share results with providers. Although genetic knowledge increased and anxiety decreased post-disclosure, many participants misinterpreted negative and VUS results as indicating lower-than-average risk for cancer (n = 41, 42%) and cardiovascular disease (n = 45, 46%). Our findings demonstrate that the CGT-OEP is a feasible, effective approach for studying consumer genetic testing. While participants reported positive experiences, findings highlight concerns about result comprehension and potential false reassurance, particularly for negative/VUS results.