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

Jayasinghe, K, Stark, Z, Kerr, PG, Gaff, C, Martyn, M, Whitlam, J, Creighton, B, Donaldson, E, Hunter, M, Jarmolowicz, A, Johnstone, L, Krzesinski, E, Lunke, S, Lynch, E, Nicholls, K, Patel, C, Prawer, Y, Ryan, J, See, EJ, Talbot, A, Trainer, A, Tytherleigh, R, Valente, G, Wallis, M, Wardrop, L, West, KH, White, SM, Wilkins, E, Mallett, AJ and Quinlan, C 2020 , 'Clinical impact of genomic testing in patients with suspected monogenic kidney disease' , Genetics in Medicine , pp. 1-9 , doi:

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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 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 Type: Article
Authors/Creators: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
Keywords: chronic kidney disease, exome sequencing, genetic kidney disease
Journal or Publication Title: Genetics in Medicine
Publisher: Lippincott Williams & Wilkins
ISSN: 1098-3600
DOI / ID Number:
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Licensed under Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

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