TestMiGenes: A hybrid effectiveness-implementation mixed methods study evaluating cancer genetic service delivery models in primary care at a federally qualified health center.

BACKGROUND

National guidelines recommend genetic testing for individuals at risk for hereditary cancer syndromes, but access to cancer genetic services (CGS) remains limited by persistent barriers. While implementation efforts have focused on oncology settings, primary care represents a critical entry point for expanding access, particularly among populations historically underserved in genomics. However, gaps exist in the development and evaluation of evidence-based CGS delivery models for primary care. Scalable approaches that address disparities while efficiently leveraging existing resources, including limited access to genetic counselors, are needed.

OBJECTIVE

To describe the design and methodology of the TestMiGenes study evaluating two CGS delivery models in primary care to facilitate identification of eligible patients and connect them to genetic services in a Federally Qualified Health Center (FQHC).

METHODS

The study employed a hybrid implementation-effectiveness design across four primary care clinics affiliated with a Chicago FQHC and academic medical center. All clinics adopted systematic electronic hereditary cancer risk assessment (HCRA) to identify patients eligible for genetic testing. Two clinics implemented an enhanced standard of care referral model with navigation support (SOC+); two implemented a mainstreaming genetic testing (MGT) model, where primary care providers offered testing directly. The EPIS framework guided the design and evaluation. Mixed methods analysis assessed implementation outcomes (e.g., feasibility, adaptations) and effectiveness outcomes (e.g., testing uptake, time-to-test).

CONCLUSION

TestMiGenes offers a pragmatic, contextually informed approach for implementing CGS in primary care settings. Findings will inform strategies for implementing delivery models that scale access to genomic medicine among high-risk patients in primary care.

CLINICALTRIALS: gov Registration #: NCT05664867.