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American Journal of Medical Genetics Part C Seminars in Medical GeneticsGenetic & Genomic MedicinePeer-reviewed journal article

Incorporating Genetics Services into Adult Kidney Disease Care

Kelsie BogyoiD, Natalie VenaiD, Halie J. MayiD, Hila Milo RasoulyiD, Maddalena MarasàiD, Simone Sanna‐CherchiiD, Krzysztof KirylukiD, Jordan Gabriela NestoriD, Ali G. GharaviiD

PDFDOIPreprint

Abstract

Studies have shown that 1 in 10 adults with chronic kidney disease has a genetic component to their disease. However, genetic services in adult nephrology are limited. An adult Kidney Genetics Clinic was established within the nephrology division at a large urban academic medical center to increase access to genetic services and testing in adults with kidney disease. Between June 2019 through December 2021, a total of 363 patients were referred to the adult Kidney Genetics Clinic. Of those who completed genetic testing, a positive, diagnostic finding was identified in 27.14% and a candidate diagnostic finding was identified in 6.67% of patients, while a non-diagnostic positive finding was identified in an additional 8.57% of patients, resulting in an overall yield of 42.38% for clinically relevant genetic findings in tested patients. A genetic diagnosis had implications for medical management, family member testing, and eligibility for clinical trials. With the utilization of telemedicine, genetic services reached a diverse geographic and patient population. Genetic education efforts were integral to the clinics success, as they increased visibility and helped providers identify appropriate referrals. Ongoing access to genomic services will remain a fundamental component of patient care in adults with kidney disease.

Citations
21
FWCI
2.11
Field percentile
top 12%

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