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

Citation

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, 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. ISSN 2044-6055 (2019) [Refereed Article]


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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/

DOI: doi:10.1136/bmjopen-2019-029541

Abstract

Introduction: Recent advances in genomic technology have allowed better delineation of renal conditions, the identification of new kidney disease genes and subsequent targets for therapy. To date, however, the utility of genomic testing in a clinically ascertained, prospectively recruited kidney disease cohort remains unknown. The aim of this study is to explore the clinical utility and cost-effectiveness of genomic testing within a national cohort of patients with suspected genetic kidney disease who attend multidisciplinary renal genetics clinics.

Methods and analysis: This is a prospective observational cohort study performed at 16 centres throughout Australia. Patients will be included if they are referred to one of the multidisciplinary renal genetics clinics and are deemed likely to have a genetic basis to their kidney disease by the multidisciplinary renal genetics team. The expected cohort consists of 360 adult and paediatric patients recruited by December 2018 with ongoing validation cohort of 140 patients who will be recruited until June 2020. The primary outcome will be the proportion of patients who receive a molecular diagnosis via genomic testing (diagnostic rate) compared with usual care. Secondary outcomes will include change in clinical diagnosis following genomic testing, change in clinical management following genomic testing and the cost-effectiveness of genomic testing compared with usual care.

Item Details

Item Type:Refereed Article
Keywords:chronic kidney disease, genomics
Research Division:Medical and Health Sciences
Research Group:Clinical Sciences
Research Field:Nephrology and Urology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Urogenital System and Disorders
UTAS Author:Jose, M (Professor Matthew Jose)
ID Code:134287
Year Published:2019
Deposited By:Medicine
Deposited On:2019-08-06
Last Modified:2019-09-05
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