Precision Medicine in Rural Settings: Patient Perspectives on Clinician-Ordered Genetic Testing

Genetic testing is a cornerstone of precision medicine, yet evidence on rural genetic testing use is limited. Reduced access to specialty services and geographic barriers in rural settings may influence how rural residents experience and use genetic testing. Understanding contextual determinants and pre-implementation outcomes of clinician-ordered genetic testing is critical for enhancing access to precision medicine.

We conducted semi-structured interviews with rural residents in the Mountain West region of the United States who had discussed reproductive genetic carrier screening or disease risk genetic testing with a clinician. Interviews were thematically analyzed using a hybrid deductive-inductive approach informed by the Practical, Robust Implementation and Sustainability Model and the Implementation Outcomes Framework, with a focus on contextual determinants and the implementation outcomes acceptability and appropriateness.

Participants were 30 predominantly college-educated non-Hispanic White residents of rural counties in Idaho, Montana, Nevada, Wyoming or Utah who had discussed disease risk or reproductive carrier genetic testing with a clinician. Participants generally perceived genetic testing discussed with a clinician as acceptable and appropriate, particularly when testing reduced uncertainty, supported reproductive decision-making or family responsibility, and was perceived as actionable. Ease and convenience of testing, out-of-pocket costs, insurance coverage, emotional readiness, and alignment with personal values influenced acceptability. Appropriateness was closely linked to clinician communication and interpersonal practices, including how clinicians explained testing, framed its relevance, and engaged patients in decision-making. Barriers to genetic testing for rural residents included having to navigate geographic distance, fragmented referral processes, and limited local specialty capacity, often relying on referrals to metropolitan healthcare systems.

Among rural residents who discussed genetic testing with a clinician, genetic testing was primarily perceived as acceptable and appropriate; however, access was patient driven in the context of constrained rural healthcare infrastructure. These findings suggest that rural inequities in the uptake of precision medicine tools like genetic testing may be driven less by patient attitudes and more by the organization, communication, and delivery of genetic services within rural health systems.