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


Jayasinghe, K and Stark, Z and Kerr, PG and Gaff, C and Martyn, M and Whitlam, J and Creighton, B and Donaldson, E and Hunter, M and Jarmolowicz, A and Johnstone, L and Krzesinski, E and Lunke, S and Lynch, E and Nicholls, K and Patel, C and Prawer, Y and Ryan, J and See, EJ and Talbot, A and Trainer, A and Tytherleigh, R and Valente, G and Wallis, M and Wardrop, L and West, KH and White, SM and Wilkins, E and Mallett, AJ and Quinlan, C, Clinical impact of genomic testing in patients with suspected monogenic kidney disease, Genetics in Medicine, 23, (1) pp. 183-191. ISSN 1098-3600 (2020) [Refereed Article]

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Licensed under Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

DOI: doi:10.1038/s41436-020-00963-4


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 47/80 (59%), including negating the need for diagnostic renal biopsy in 10/80 (13%), changing surveillance in 35/80 (44%), and changing the treatment plan in 16/80 (20%). In cases with no change to management in the proband, the ES result had implications for the management of family members in 26/33 (79%). Cascade testing was subsequently offered to 40/80 families (50%).

Conclusion: In this pragmatic pediatric and adult cohort with suspected monogenic kidney disease, ES had high diagnostic and clinical utility. Our findings, including predictors of positive diagnosis, can be used to guide clinical practice and health service design.

Item Details

Item Type:Refereed Article
Keywords:chronic kidney disease, exome sequencing, genetic kidney disease
Research Division:Biomedical and Clinical Sciences
Research Group:Clinical sciences
Research Field:Nephrology and urology
Objective Division:Expanding Knowledge
Objective Group:Expanding knowledge
Objective Field:Expanding knowledge in the biological sciences
UTAS Author:Wallis, M (Dr Mathew Wallis)
ID Code:141081
Year Published:2020
Web of Science® Times Cited:31
Deposited By:Menzies Institute for Medical Research
Deposited On:2020-09-23
Last Modified:2022-01-07
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