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Research Article: Sustained delivery of diagnostic and preventive genomics in primary care: a five-year real-world cohort from a family medicine-embedded multidisciplinary clinic

Date Published: 2026-06-24

Abstract:
Precision medicine has traditionally been delivered in specialty settings, limiting access for many patients. Primary care offers a potential entry point for broader delivery of genomic services within primary care, given its central role in longitudinal and preventive care. In this study, we characterize five years of sustained real-world delivery of both diagnostic and preventive genomic services within a family-medicine-embedded multidisciplinary clinic, examining patient population, referral patterns, clinical workflow, and genomic testing yield. We conducted a retrospective chart review of all new patients evaluated in the PCPM clinic at UPMC between November 6, 2019, and April 17, 2024 ( n =?1,602). Patients were seen via in-person and telemedicine visits for comprehensive family history assessment, genetic counseling, and clinician evaluation. Data collected included demographics, referral sources and indications, test types, and genetic testing outcomes. Summary statistics were reported using frequencies and proportions. Genetic testing was ordered for 1,174 patients (73%), with 1,360 total tests ordered and an 83.4% completion rate. Panel-based testing accounted for 71% of all tests. Most tests (86%) were ordered for primary referral concerns, while 14% were prompted by incidental indications identified during intake. Clinic growth supported increased access, expanded staffing, and the development of a streamlined two-visit care model. These findings demonstrate that the sustained delivery of diagnostic and preventive genomics within a family medicine embedded multidisciplinary clinic model is feasible, enabling broad genomic evaluation, efficient testing workflows, and clinically meaningful diagnoses across diverse indications, offering a replicable template for health systems seeking to close the genomics access gap.

Introduction:
Precision medicine has traditionally been delivered in specialty settings, limiting access for many patients. Primary care offers a potential entry point for broader delivery of genomic services within primary care, given its central role in longitudinal and preventive care. In this study, we characterize five years of sustained real-world delivery of both diagnostic and preventive genomic services within a family-medicine-embedded multidisciplinary clinic, examining patient population, referral patterns, clinical…

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