Utility of Genetic Testing in Adults with Chronic Kidney Disease: A Systematic Review and Meta-Analysis.

Autor:	Schott C; Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Lebedeva V; London Health Sciences Centre, London, Ontario, Canada., Taylor C; Department of Biology, Western University, London, Ontario, Canada., Abumelha S; Department of Medicine, Division of Nephrology, University Hospital, London Health Sciences Centre, London, Ontario, Canada., Roshanov PS; Department of Medicine, Division of Nephrology, University Hospital, London Health Sciences Centre, London, Ontario, Canada.; Department of Epidemiology and Biostatistics, Western University, London, Ontario, Canada.; Population Health Research Institute, Hamilton, Ontario, Canada., Connaughton DM; Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.; London Health Sciences Centre, London, Ontario, Canada.; Department of Medicine, Division of Nephrology, University Hospital, London Health Sciences Centre, London, Ontario, Canada.
Jazyk:	angličtina
Zdroj:	Clinical journal of the American Society of Nephrology : CJASN [Clin J Am Soc Nephrol] 2024 Sep 19. Date of Electronic Publication: 2024 Sep 19.
DOI:	10.2215/CJN.0000000000000564
Abstrakt:	Background: Clinical and pathological confirmation of the diagnosis for chronic kidney disease (CKD) has limitations, with up to one-third of individuals remaining without a formal diagnosis. Increasingly, data suggests that these limitations can be overcome by genetic testing. The objective of this study is to estimate the diagnostic yield of genetic testing in adults with CKD. Methods: Cohort studies that report diagnostic yield of genetic testing in adults with CKD published in PubMed or Embase between January 1, 2005, and December 31, 2023, were included. The Joanna Briggs Institute critical appraisal tool for prevalence studies was used to assess bias. Duplicate independent data extraction and a meta-analysis of proportions using generalized linear mixed models was completed. Results: We included 60 studies with 10,107 adults with CKD who underwent genetic testing. We found a diagnostic yield of 40% (95% CI; 33 to 46); yield varied by CKD subtype with the highest yield of 62% (95% CI; 57 to 68) in cystic kidney disease. Positive family history and presence of extra-kidney features were associated with higher diagnostic yield. Reclassification of the before testing diagnosis following a positive genetic testing result occurred in 17% of the solved cohort. Six studies showed the clinical benefits of genetic tests including cascade testing for family members and treatment changes. Conclusions: Overall, we show that genetic testing is informative in a high proportion of clinically selected adults with CKD. The study was limited by heterogeneity in reporting, testing technologies, and cohort characteristics. Trial Registration: PROSPERO (CRD42023386880). (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Society of Nephrology.)
Databáze:	MEDLINE
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