Introduction:
Barriers to equitable and accessible genomic services persist, limiting many patients' access to routine genetic care. To address this, the Primary Care Precision Medicine (PCPM) Clinic was established in 2019, bringing advanced genetic services into primary care. This retrospective analysis aims to evaluate the services provided by the PCPM clinic.

Methods:
A retrospective chart review was conducted with data from the PCPM Clinic between November 2019 and April 2024. Patient demographics, referral sources, referral indications, testing modalities, and results were summarized. Testing types included panel tests, single-gene tests, whole exome sequencing (WES), whole genome sequencing (WGS), repeat expansion testing, carrier screening, and familial variant testing (FVT). Test outcomes were categorized as negative, uninformative, carrier, diagnostic, or as confirmations of clinical diagnoses when genetic findings were negative.

 

Results:
Between November 2019 and April 2024, the PCPM Clinic served over 1,600 patients, ranging in age from 3.2 to 95.9 years (mean age 42.2). Patient volume grew substantially from 117 patients in 2020 (the first full clinic year) to 531 in 2023. The clinic initially operated half a day per week with one physician, two genetic counselors, and a pharmacogenomics-trained pharmacist; it now operates five days per week with a multidisciplinary team of two genomics-trained physicians, a genomics-trained nurse practitioner, three genetic counselors, and one pharmacist.

Referrals were diverse: 36.5% from primary care (family medicine, internal medicine, pediatrics, and OB/GYN), 27.2% from self-referrals, 13.9% from neurology, 8.6% from rheumatology, and the remainder from other specialties. The most common referral indications included connective tissue disorders (37.5%), neurological disorders (19.4%), cancer (8.2%), and pharmacogenomic testing (6.2%).

 

Conclusion:
The PCPM Clinic's integration of genetic services within primary care has demonstrated a viable alternative service by integrating genetic services within primary care. The clinic's multidisciplinary, patient-centered approach has enabled a nuanced understanding of patient conditions through diverse genetic testing modalities. This adaptable service model highlights a practical framework that could be adopted more widely in primary care settings to expand access to routine genetic testing services and advance equitable genomic healthcare delivery.