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Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol

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Jayasinghe, K, Stark, Z, Patel, C, Mallawaarachchi, A, McCarthy, H, Faull, R, Chakera, A, Sundaram, M, Jose, M ORCID: 0000-0002-9589-0071, Kerr, P, Wu, Y, Wardrop, L, Goranitis, I, Best, S, Martyn, M, Quinlan, C and Mallett, AJ 2019 , 'Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol' , BMJ Open , pp. 1-8 , doi: 10.1136/bmjopen-2019-029541.

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Abstract

Introduction: Recent advances in genomic technologyhave allowed better delineation of renal conditions, theidentification of new kidney disease genes and subsequenttargets for therapy. To date, however, the utility of genomictesting in a clinically ascertained, prospectively recruitedkidney disease cohort remains unknown. The aim of thisstudy is to explore the clinical utility and cost-effectivenessof genomic testing within a national cohort of patientswith suspected genetic kidney disease who attendmultidisciplinary renal genetics clinics.Methods and analysis: This is a prospective observationalcohort study performed at 16 centres throughout Australia.Patients will be included if they are referred to one of themultidisciplinary renal genetics clinics and are deemedlikely to have a genetic basis to their kidney disease by themultidisciplinary renal genetics team. The expected cohortconsists of 360 adult and paediatric patients recruited byDecember 2018 with ongoing validation cohort of 140patients who will be recruited until June 2020. The primaryoutcome will be the proportion of patients who receive amolecular diagnosis via genomic testing (diagnostic rate)compared with usual care. Secondary outcomes will includechange in clinical diagnosis following genomic testing,change in clinical management following genomic testingand the cost-effectiveness of genomic testing compared withusual care.

Item Type: Article
Authors/Creators:Jayasinghe, K and Stark, Z and Patel, C and Mallawaarachchi, A and McCarthy, H and Faull, R and Chakera, A and Sundaram, M and Jose, M and Kerr, P and Wu, Y and Wardrop, L and Goranitis, I and Best, S and Martyn, M and Quinlan, C and Mallett, AJ
Keywords: chronic kidney disease, genomics
Journal or Publication Title: BMJ Open
Publisher: B M J Group
ISSN: 2044-6055
DOI / ID Number: 10.1136/bmjopen-2019-029541
Copyright Information:

Copyright 2019 The Authors. Licensed under Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) https://creativecommons.org/licenses/by-nc/4.0/

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