Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol
Kushani Jayasinghe, Zornitza Stark, Chirag Patel, Amali Mallawaarachchi, Hugh McCarthy, Randall Faull, Aron Chakera, Madhivanan Sundaram, Matthew Jose, Peter Kerr, You Wu, Louise Wardrop, Ilias Goranitis, Stephanie Best, Melissa Martyn, Catherine Quinlan, Andrew J Mallett
BMJ Open | BMJ PUBLISHING GROUP | Published : 2019
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 i..View full abstract
Awarded by NHMRC Genomics TCR Grant
Operating as the KidGen Renal Genetics Flagship, this work was supported by the Melbourne Genomics Health Alliance (Melbourne Genomics) and grants from the Royal Children's Hospital Foundation and by the NHMRC Genomics TCR Grant 1113531, entitled Preparing Australia for Genomic Medicine: A proposal by the Australian Genomics Health Alliance. Melbourne Genomics is funded by the 10 members and the State Government of Victoria (Department of Health and Humans Services). In-kind funding support was provided for renal genetics clinic operation and genomic test provision by Queensland Health (Metro North Hospital and Health Service; Children's Health Queensland Hospital and Health Service), New South Wales Health, South Australia Health, Western Australia Department of Health, Northern Territory Department of Health and Tasmanian Department of Health and Human Services.