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Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol
  1. Kushani Jayasinghe1,2,3,4,5,
  2. Zornitza Stark3,5,6,
  3. Chirag Patel3,7,
  4. Amali Mallawaarachchi3,8,9,
  5. Hugh McCarthy3,10,11,
  6. Randall Faull3,12,
  7. Aron Chakera3,13,
  8. Madhivanan Sundaram3,14,
  9. Matthew Jose3,15,16,
  10. Peter Kerr1,2,4,
  11. You Wu3,5,17,
  12. Louise Wardrop3,4,5,
  13. Ilias Goranitis3,5,17,
  14. Stephanie Best3,5,18,
  15. Melissa Martyn4,5,6,
  16. Catherine Quinlan3,4,5,6,19,
  17. Andrew J Mallett3,5,20,21
  1. 1 Department of Nephrology, Monash Medical Centre, Melbourne, Victoria, Australia
  2. 2 Monash University, Melbourne, Victoria, Australia
  3. 3 Australian Genomics Health Alliance, Melbourne, Victoria, Australia
  4. 4 Melbourne Genomics Health Alliance, Melbourne, Victoria, Australia
  5. 5 Murdoch Children’s Research Institute, Melbourne, Victoria, Australia
  6. 6 Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
  7. 7 Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia
  8. 8 Department of Medical genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia
  9. 9 Garvan Institute of Medical Research, Sydney, New South Wales, Australia
  10. 10 Sydney Children’s Hospitals Network, Sydney, New South Wales, Australia
  11. 11 Children's Hospital Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia
  12. 12 Royal Adelaide Hospital, Adelaide, South Australia, Australia
  13. 13 Sir Charles Gairdner Hospital, Perth, Western Australia, Australia
  14. 14 Royal Darwin Hospital, Darwin, Northern Territory, Australia
  15. 15 School of Medicine, University of Tasmania, Hobart, Tasmania, Australia
  16. 16 Royal Hobart Hospital, Hobart, Tasmania, Australia
  17. 17 Health Economics Unit, Centre for Health Policy, University of Melbourne, Melbourne, Victoria, Australia
  18. 18 Centre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Macquarie University, Sydney, New South Wales, Australia
  19. 19 Department of Paediatric Nephrology, Royal Children’s Hospital, Melbourne, Victoria, Australia
  20. 20 Kidney Health Service and Conjoint Renal Research Laboratory, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia
  21. 21 Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia
  1. Correspondence to A/Prof Andrew J Mallett; Andrew.Mallett{at}


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
  • genetics
  • genomics
  • nephrology

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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.

  • Map disclaimer The depiction of boundaries on the map(s) in this article do not imply the expression of any opinion whatsoever on the part of BMJ (or any member of its group) concerning the legal status of any country, territory, jurisdiction or area or of its authorities. The map(s) are provided without any warranty of any kind, either express or implied.

  • 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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