P249: Aortic root dilation is an underrecognized cardiac manifestation of Fabry disease
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.
Authors
- Lindsey D. Reinhardt
- John Bernat (ORCID: https://orcid.org/0000-0003-2033-6129)
- Katherine McDonald
Institutions
- University of Iowa Health Care (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102214
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00