Mallawaarachchi, Amali

McCarthy, Hugh

Forbes, Thomas A

Jayasinghe, Kushani

Patel, Chirag

Alexander, Stephen I

Boughtwood, Tiffany

Braithwaite, Jeffrey

Chakera, Aron

Crafter, Sam

Deveson, Ira W

Faull, Randall

Harris, Trudie

Johnstone, Lilian

Jose, Matthew

Leaver, Anna

Little, Melissa H

MacArthur, Daniel

Mattiske, Tessa

Mincham, Christine

Nicholls, Kathy

Quinlan, Catherine

Quinn, Michael C J

Rangan, Gopala

Ryan, Jessica

Simons, Cas

Smyth, Ian

Sundaram, Madhivanan

Trnka, Peter

Wedd, Laura

Biros, Erik

Stark, Zornitza

Mallett, Andrew

2025-02-03

Genetic kidney disease (GKD) significantly affects the community and is responsible for a notable portion of adult kidney disease cases and about half of cases in paediatric patients. It substantially impacts the quality of life and life expectancy for affected children and adults across all stages of kidney disease. Precise genetic diagnosis in GKD promises to improve patient outcomes, provide access to targeted treatments, and reduce the disease burden for individuals, families, and healthcare systems. Genetic investigations are increasingly used in nephrology practice; however, many patients who undergo testing still lack a definitive diagnosis.The KidGen National Kidney Genomics Study aims to increase diagnostic yield for those with suspected monogenic kidney disease without a diagnosis after standard diagnostic genetic testing. The program will seek to enrol up to 200 families from KidGen Collaborative kidney genetics clinics across Australia who have yet to receive conclusive diagnoses despite prior testing. Participants will undergo a personalised pathway of research genomic investigations. These include re-analysing existing data and/or undergoing advanced genomic testing methods, including short and long-read whole-genome sequencing, RNA sequencing, and functional genomics strategies using mouse modelling or kidney organoids.The KidGen National Kidney Genomics Study is a coordinated, multidisciplinary extension of previous research projects that aims to assess the diagnostic yield of advanced genomic approaches. The study's evidence will drive changes to current diagnostic pathways, including identifying which chronic kidney disease patients are most likely to benefit from a more comprehensive genomic approach to diagnosis.

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.

Garvan Institute of Medical Research, Sydney, NSW, Australia.

Clinical Genetics Service, Institute of Precision Medicine and Bioinformatics, Royal Prince Alfred Hospital, New South Wales, Australia.

School of Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.

Centre for Kidney Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.

Department of Nephrology, The Children's Hospital at Westmead, Sydney, NSW, Australia.

Department of Nephrology, Sydney Children's Hospital, Sydney, NSW, Australia.

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.

Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.

Department of Nephrology, Royal Children's Hospital, Melbourne, VIC, Australia.

Kidney Regeneration, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.

Department of Nephrology, Monash Medical Centre, Melbourne, VIC, Australia.

School of Clinical Sciences, Monash University, Melbourne, VIC, Australia.

Murdoch Children's Research Institute, Melbourne, VIC, Australia.

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.

Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.

Centre for Kidney Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.

Department of Nephrology, Sydney Children's Hospital, Sydney, NSW, Australia.

Murdoch Children's Research Institute, Melbourne, VIC, Australia.

Australian Genomics, Melbourne, VIC, Australia.

Centre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Macquarie University, New South Wales, Australia.

Sir Charles Gairdner Hospital, Perth, WA, Australia.

Women's and Children's Hospital, Adelaide, South Australia, Australia.

Garvan Institute of Medical Research, Sydney, NSW, Australia.

Royal Adelaide Hospital, Adelaide, South Australia, Australia.

Murdoch Children's Research Institute, Melbourne, VIC, Australia.

Townsville University Hospital, Townsville, QLD, Australia.

Department of Nephrology, Monash Children's Hospital, Monash Health, Melbourne, VIC, Australia.

Department of Paediatrics, Monash University, Melbourne, VIC, Australia.

Royal Hobart Hospital, Hobart, TAS, Australia.

Austin Hospital, Melbourne, VIC, Australia.

Murdoch Children's Research Institute, Melbourne, VIC, Australia.

Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

Centre for Population Genomics, Garvan Institute of Medical Research, University of New South Wales, Sydney, NSW, Australia.

Murdoch Children's Research Institute, Melbourne, VIC, Australia.

Australian Genomics, Melbourne, VIC, Australia.

Perth 's Hospital, Perth, WA, Australia.

Royal Melbourne Hospital, Melbourne, VIC, Australia.

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.

Department of Nephrology, Royal Children's Hospital, Melbourne, VIC, Australia.

Kidney Regeneration, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.

Melbourne Genomics Health Alliance, Melbourne, VIC, Australia.

Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.

Australian Genomics, Melbourne, VIC, Australia.

Department of Renal Medicine, Westmead Hospital, Sydney, NSW, Australia.

Michael Stern Laboratory for PKD, Westmead Institute for Medical Research, The University of Sydney, Sydney, NSW, Australia.

Monash Health, Melbourne, VIC, Australia.

Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.

Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC, Australia.

Royal Darwin Hospital, Darwin, NT, Australia.

Queensland 's Hospital, Brisbane, QLD, Australia.

Garvan Institute of Medical Research, Sydney, NSW, Australia.

Murdoch Children's Research Institute, Melbourne, VIC, Australia.

Townsville University Hospital, Townsville, QLD, Australia.

College of Medicine and Dentistry, James Cook University, Townsville, QLD, Australia.

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.

Perth 's Hospital, Perth, WA, Australia.

Victorian Clinical Genetics Services, Melbourne, VIC, Australia.

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia. andrew.mallett@health.qld.gov.au.

Murdoch Children's Research Institute, Melbourne, VIC, Australia. andrew.mallett@health.qld.gov.au.

Townsville University Hospital, Townsville, QLD, Australia. andrew.mallett@health.qld.gov.au.

College of Medicine and Dentistry, James Cook University, Townsville, QLD, Australia. andrew.mallett@health.qld.gov.au.

Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia. andrew.mallett@health.qld.gov.au.

BMC Nephrol . 2025 Feb 3;26(1):51. doi: 10.1186/s12882-024-03926-y.

1471-2369

https://pubmed.ncbi.nlm.nih.gov/39901087/?otool=iaurydwlib

https://hdl.handle.net/10137/13963

Advanced genomic testing

Diagnostic yield

Genetic kidney disease

Re-analysis

Study protocol

Undiagnosed patients

Humans

Genomics

Kidney Diseases

Genetic Testing

Australia

Child

Adult

Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol.

Journal Article

Publication