High-throughput DNA testing is becoming established as a standard diagnostic test in the renal clinic. Previously published studies on cohorts of patients with unexplained chronic kidney disease of a suspected genetic aetiology have suggested a diagnostic yield for genomic sequencing of up to 18%. Here we determine the yield of targeted gene panel in a clinically unscreened cohort of patients referred for percutaneous native renal biopsy. Patients who underwent renal biopsy for investigation of chronic kidney disease were sequenced using a genomic sequencing panel covering 227 genes in which variation is known to be associated with monogenic chronic kidney disease (CKD). Candidate disease-causing variants were assessed for pathogenicity using guidelines from the American College for Medical Genetics and Genomics. Fifty CKD patients were recruited and sequenced. A molecular diagnosis was obtained for two patients (4%). A molecular diagnosis is possible using genomic testing in ∼4% of clinically unscreened patients undergoing renal biopsy. Genetic screening may be useful for diagnosis in a subset of CKD patients but is most valuable when applied to patients with suspected heritable forms of kidney disease.
Keywords: acute tubulointerstitial nephritis; decreased glomerular filtration rate; elevated serum creatinine; glomerulonephritis; heavy proteinuria; hematuria; mild proteinuria; moderate proteinuria; stage 1 chronic kidney disease; stage 2 chronic kidney disease; stage 3 chronic kidney disease; stage 4 chronic kidney disease; stage 5 chronic kidney disease.
© 2020 Benson et al.; Published by Cold Spring Harbor Laboratory Press.