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.

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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
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article

P249: Aortic root dilation is an underrecognized cardiac manifestation of Fabry disease

Lindsey D. Reinhardt, John Bernat, Katherine McDonald
Genetics in Medicine Open
Lysosomal Storage Disorders Research
article

P249: Aortic root dilation is an underrecognized cardiac manifestation of Fabry disease

Lindsey D. Reinhardt, John Bernat, Katherine McDonald
article en

Abstract

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.

Genetics in Medicine OpenVol. 3
University of Iowa Health Care (US)
Zero hunger
Openalex Percentile: Top 94%
Lysosomal Storage Disorders Research
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P249: Aortic root dilation is an underrecognized cardiac manifestation of Fabry disease — Lindsey D. Reinhardt, John Bernat, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS