Health actions after direct-to-consumer genetic testing for medically actionable conditions.

Millions of individuals have undergone direct-to-consumer genetic testing (DTC-GT), which can include results for medically actionable conditions. We sought to determine whether individuals with DTC-GT results for medically actionable cancer and cardiovascular conditions take health actions, such as sharing results with health care professionals (HCPs) and following subsequent recommendations to reduce health risks. We conducted a retrospective survey study of 23andMe research participants aged ≥18 years who were positive for variant(s) in BRCA1, BRCA2, APOB, LDLR, HFE, TTR, or MUTYH and had opened their report. Main outcomes included personal and family history of relevant health conditions, prior genetic testing, result sharing with biological relatives and HCPs, HCP recommendations, and adherence to recommendations. Among 1076 survey respondents, most were female (72.3%) and self-reported White or European (85.5%), and average age was 56.8 years (SD 16.0). In total, 67.7% reported a personal and/or family history relevant to their 23andMe-identified variant, and 81.9% had not had prior genetic testing for the variant; 72.9% of the results were shared with biological relatives; and 46.1% of results were shared with HCPs, with result sharing being highest for BRCA1/BRCA2 (73.3%) and lowest for TTR (24.0%). Among individuals who shared results with HCPs, 86.0% received at least 1 medical recommendation, and 87.5% of recommendations were followed. Most individuals receiving medically actionable results through DTC-GT had no prior knowledge of their genetic health risks, despite many reporting a relevant personal and/or family history. When individuals shared results with HCPs and received medical recommendations, adherence was high.