Moving Nephrology Genetics into Clinical Care

More than 10% of patients with advanced CKD have a rare pathogenic genetic variant that significantly contributes to their disease (1). Ideally, early genetic testing would lead to a specific diagnosis of the underlying cause of CKD which would ultimately prevent or delay progression to kidney failure. Adult-onset conditions for which genetic testing is available in nephrology are wide ranging and include cystic kidney diseases, type IV collagen nephropathy (Alport syndrome), congenital abnormalities of the kidney and urinary tract, nephrotic syndrome including FSGS, tubulopathies including autosomal dominant tubulointerstitial kidney disease, channelopathies including Bartter and Gitelman syndromes, and nephronophthisis among others (2). Using clinical clues to select patients for sequencing can increase the probability of identifying a rare pathogenic variant. In this issue of Kidney360 , Lundquist et al. report their experience using commercial diagnostic genetic panels in an academic adult nephrology clinic to assist the clinical care of patients (3). Using commercial laboratories to provide sequencing, they report identifying pathogenic variants in nine of 19 CKD patients. An additional two patients were cleared for kidney donation because they did not have a familial pathogenic variant. The authors suggest that their experience demonstrates the feasibility of nephrology genetic testing without specific genetics infrastructure, although they admit there were administrative hurdles in obtaining preauthorization for funding and that a genetic counselor was funded by a hospital initiative.Young age at disease onset and clinical clues suggestive of a genetic kidney disease increase the pretest probability of discovering a pathogenic variant (2). Although pediatric nephrologists recognize genetics as a valuable diagnostic tool, it is a paradigm shift to suggest that adult nephrologists can also successfully utilize genetic testing to assist in diagnosis. …