Incorporating genetics services into adult kidney disease care

Kelsie Bogyo, Natalie Vena, Halie May, Hila Milo Rasouly, Maddalena Marasa, Simone Sanna-Cherchi, Krzysztof Kiryluk, Jordan Nestor, Ali Gharavi

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

Studies have shown that as many as 1 in 10 adults with chronic kidney disease has a monogenic form of 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 and 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 27.1%, a candidate diagnostic finding was identified in 6.7% of patients, and a nondiagnostic positive finding was identified in an additional 8.6% of patients, resulting in an overall yield of 42.4% 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 clinic's 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.

Original languageEnglish
Pages (from-to)289-301
Number of pages13
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume190
Issue number3
DOIs
StatePublished - Sep 2022
Externally publishedYes

Keywords

  • genetic testing
  • genetics clinic
  • kidney genetics
  • nephrology
  • renal genetics

Fingerprint

Dive into the research topics of 'Incorporating genetics services into adult kidney disease care'. Together they form a unique fingerprint.

Cite this