{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["23(1)"],"submitter":["Jayasinghe K"],"funding":["Melbourne Genomics"],"pubmed_abstract":["<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%)"],"journal":["Genetics in medicine : official journal of the American College of Medical Genetics"],"pagination":["183-191"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7790755"],"repository":["biostudies-literature"],"pubmed_title":["Clinical impact of genomic testing in patients with suspected monogenic kidney disease."],"pmcid":["PMC7790755"],"pubmed_authors":["Patel C","Talbot A","Valente G","Stark Z","Nicholls K","Wilkins E","Trainer A","Hunter M","Jarmolowicz A","Prawer Y","Jayasinghe K","Kerr PG","Whitlam J","Wardrop L","White SM","Quinlan C","Martyn M","Krzesinski E","See EJ","Mallett AJ","West KH","Wallis M","Lunke S","Gaff C","Johnstone L","Tytherleigh R","Ryan J","Creighton B","Lynch E","Donaldson E"],"additional_accession":[]},"is_claimable":false,"name":"Clinical impact of genomic testing in patients with suspected monogenic kidney disease.","description":"<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%)","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Jan","modification":"2026-05-03T08:24:44.686Z","creation":"2021-02-21T01:09:35Z"},"accession":"S-EPMC7790755","cross_references":{"pubmed":["32939031"],"doi":["10.1038/s41436-020-00963-4"]}}