Journal article

Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Kushani Jayasinghe, Zornitza Stark, Peter G Kerr, Clara Gaff, Melissa Martyn, John Whitlam, Belinda Creighton, Elizabeth Donaldson, Matthew Hunter, Anna Jarmolowicz, Lilian Johnstone, Emma Krzesinski, Sebastian Lunke, Elly Lynch, Kathleen Nicholls, Chirag Patel, Yael Prawer, Jessica Ryan, Emily J See, Andrew Talbot Show all



PURPOSE: To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease. METHODS: 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. RESULTS: 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..

View full abstract


Awarded by Australian Genomics Health Alliance (National Health and Medical Research Council)

Funding Acknowledgements

The study was funded by the Melbourne Genomics Health Alliance (Melbourne Genomics) and grants from the Royal Children's Hospital Foundation and Australian Genomics Health Alliance (National Health and Medical Research Council APP1113531). Melbourne Genomics is funded by ten member organizations and the State Government of Victoria (Department of Health and Humans Services). The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. K.J. was supported by the Royal Australian College of Physicians Jacquot Research Entry Scholarship and an Australian Government Research Training Program (RTP) Scholarship.