Consumer Experiences and Perceptions of Genetic Counseling in Provider-Mediated Genetic Testing

Provider-mediated genetic testing (PM-GT) is a hybrid model in which consumers initiate testing online, but a physician, typically from a third-party network, is required to order the test. While genetic counseling is a critical component of result interpretation and medical decision-making, its integration into PM-GT remains limited. This study explored how consumers engaged with genetic counseling in the context of PM-GT, including factors that influenced whether they pursued it and their perceptions of its value. Participants had previously undergone a 59-gene panel test for cancer and cardiovascular disease risk through Color Health, a PM-GT company. Twenty-nine participants completed qualitative interviews about their testing experience and a follow-up survey that was focused on genetic counseling. Post-test counseling was required only for individuals with positive results and was optional for those with negative or variant of uncertain significance (VUS) results. Using quantitative content analysis and qualitative inductive content analysis, we found that while most participants did not engage in pre- or post-test counseling, nearly half of those who had not yet spoken with a genetic counselor after receiving their results expressed interest in doing so in the future. Participants often viewed the counseling that was offered by the testing company as helpful for understanding their results, clarifying disease risk, and guiding medical decisions. Time constraints were the most frequently cited barrier to accessing genetic counseling services. These findings indicate a gap between consumers' interest in counseling and their actual uptake of services, suggesting that many consumers who could benefit from counseling do not receive it. More proactive integration of genetic counseling into the PM-GT process could help bridge this gap and ensure that consumers are appropriately supported regardless of their test results.