Initial experience from a renal genetics clinic demonstrates a distinct role in patient management. Genet Med 2020 Jun;22(6):1025-1035
Date
03/24/2020Pubmed ID
32203225Pubmed Central ID
PMC7272321DOI
10.1038/s41436-020-0772-yScopus ID
2-s2.0-85082659291 (requires institutional sign-in at Scopus site) 58 CitationsAbstract
PURPOSE: A Renal Genetics Clinic (RGC) was established to optimize diagnostic testing, facilitate genetic counseling, and direct clinical management.
METHODS: Retrospective review of patients seen over a two-year period in the RGC.
RESULTS: One hundred eleven patients (mean age: 39.9 years) were referred to the RGC: 65 for genetic evaluation, 19 for management of a known genetic disease, and 18 healthy living kidney donors (LKDs) and their 9 related transplant candidates for screening. Forty-three patients underwent genetic testing with a diagnosis in 60% of patients including 9 with Alport syndrome, 7 with autosomal dominant polycystic kidney disease (ADPKD), 2 with genetic focal segmental glomerulosclerosis (FSGS), 2 with PAX2-mediated CAKUT, and 1 each with autosomal recessive polycystic kidney disease (ARPKD), Dent, Frasier, Gordon, Gitelman, and Zellweger syndromes. Four of 18 LKDs were referred only for APOL1 screening. For the remaining 14 LKDs, their transplant candidates were first tested to establish a genetic diagnosis. Five LKDs tested negative for the familial genetic variant, four were positive for their familial variant. In five transplant candidates, a genetic variant could not be identified.
CONCLUSION: An RGC that includes genetic counseling enhances care of renal patients by improving diagnosis, directing management, affording presymptomatic family focused genetic counseling, and assisting patients and LKDs to make informed decisions.
Author List
Thomas CP, Freese ME, Ounda A, Jetton JG, Holida M, Noureddine L, Smith RJAuthor
Jennifer G. Jetton MD Chief, Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdultApolipoprotein L1
Genetic Testing
Humans
Kidney
Mass Screening
Polycystic Kidney, Autosomal Dominant
Retrospective Studies
