ArticleBMJ open2019
Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol.
Article in BMJ open, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 20 citations in OpenAlex.
- Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective.Pediatric nephrology (Berlin, Germany) · 2025Review
- Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol.BMC nephrology · 2025Article
- Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023.Human genomics · 2024Article
- Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.Kidney international reports · 2024Article
- QALYs and rare diseases: exploring the responsiveness of SF-6D, EQ-5D-5L and AQoL-8D following genomic testing for childhood and adult-onset rare genetic conditions in Australia.Health and quality of life outcomes · 2023Article
- The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology.Frontiers in medicine · 2022Article
- Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics.Kidney international reports · 2021Article
Corrections and comments
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Authors and funding
17 authors at 12 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionRecent 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.
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