biostudies-literatureUnknown23(1)Jayasinghe KMelbourne Genomics<h4>Purpose</h4>To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease.<h4>Methods</h4>We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients assessed in multidisciplinary renal genetics clinics at four tertiary hospitals in Melbourne, Australia.<h4>Results</h4>ES identified a molecular diagnosis in 80 (39%) patients, encompassing 35 distinct genetic disorders. Younger age at presentation was independently associated with an ES diagnosis (p < 0.001). Of those diagnosed, 31/80 (39%) had a change in their clinical diagnosis. ES diagnosis was considered to have contributed to management in 47/80 (59%), including negating the need for diagnostic renal biopsy in 10/80 (13%)Genetics in medicine : official journal of the American College of Medical Genetics183-191https://www.ebi.ac.uk/biostudies/studies/S-EPMC7790755biostudies-literatureClinical impact of genomic testing in patients with suspected monogenic kidney disease.PMC7790755Patel CTalbot AValente GStark ZNicholls KWilkins ETrainer AHunter MJarmolowicz APrawer YJayasinghe KKerr PGWhitlam JWardrop LWhite SMQuinlan CMartyn MKrzesinski ESee EJMallett AJWest KHWallis MLunke SGaff CJohnstone LTytherleigh RRyan JCreighton BLynch EDonaldson EfalseClinical impact of genomic testing in patients with suspected monogenic kidney disease.<h4>Purpose</h4>To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease.<h4>Methods</h4>We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients assessed in multidisciplinary renal genetics clinics at four tertiary hospitals in Melbourne, Australia.<h4>Results</h4>ES identified a molecular diagnosis in 80 (39%) patients, encompassing 35 distinct genetic disorders. Younger age at presentation was independently associated with an ES diagnosis (p < 0.001). Of those diagnosed, 31/80 (39%) had a change in their clinical diagnosis. ES diagnosis was considered to have contributed to management in 47/80 (59%), including negating the need for diagnostic renal biopsy in 10/80 (13%)2021-01-01T00:00:00Z2021 Jan2026-05-03T08:24:44.686Z2021-02-21T01:09:35ZS-EPMC77907553293903110.1038/s41436-020-00963-4