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. 2025 Jul 29:e64169.
doi: 10.1002/ajmg.a.64169. Online ahead of print.

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

Madison K Kilbride  1 , Daniel Chavez-Yenter  2   3 , Bob Wong  4 , J Scott Roberts  5 , Jacqueline Park  6 , Jason Iuliano  7 , Angela R Bradbury  2   3
Affiliations

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

Madison K Kilbride et al. Am J Med Genet A. .

Abstract

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.

Keywords: cancer genetics; cardiovascular genetics; consumer genetic testing; patient‐reported outcomes; physician‐mediated genetic testing.

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