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.
Ethics and dissemination The project has received ethics approval from the Melbourne Health Human Research Ethics Committee as part of the Australian Genomics Health Alliance protocol: HREC/16/MH/251. All participants will provide written informed consent for data collection and to undergo clinically relevant genetic/genomic testing. The results of this study will be published in peer-reviewed journals and will also be presented at national and international conferences.
- chronic renal failure
- genetic kidney disease
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CQ and AJM are joint senior authors.
Contributors KJ contributed to the design of the study and drafted the manuscript. CQ and AJM conceived the project and obtained funding for the clinical flagships and research study, made substantial contributions to the design of the study and were major contributors in drafting the manuscript. LW and ZS undertook significant project design and data management elements, provided specific design elements around outcome analysis and were major contributors in drafting the manuscript. IG, YW and MM provided specific design elements around health economic analysis. SB provided specific implementation design elements. AM, HM, RF, AC, MS, MJ, PK and CP contributed to regionalised study design and implementation. All authors contributed to the drafting of the manuscript, read and approved the final manuscript. In addition to the authors listed, the broader KidGen Collaborative scientific, clinical and diagnostic membership had input into this protocol.
Funding 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.
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Competing interests None declared.
Patient consent for publication Not required.
Ethics approval Ethics approval for this project has been obtained by Australian Genomics Health Alliance as part of the research study, Australian Genomics Health Alliance: Preparing Australia for Genomic Medicine, and issued by Melbourne Health HREC/16/MH/251. Governance site-specific approval for the project has been obtained for each of the participating clinic sites.
Provenance and peer review Not commissioned; externally peer reviewed.
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