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Nephrology (Carlton). 2018 Sep 21. doi: 10.1111/nep.13494. [Epub ahead of print]

Renal genetics in Australia: Kidney medicine in the genomic age.

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Department of Nephrology, Monash Medical Centre, Melbourne, Victoria, Australia.
KidGen Renal Genetics Flagship, Australian Genomic Health Alliance, Melbourne, Victoria, Australia.
Monash University, Melbourne, Victoria, Australia.
Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Department of Paediatric Nephrology, Royal Children's Hospital, Melbourne, Victoria, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
Queensland Child and Adolescent Renal Service, Queensland Children's Hospital, South Brisbane, Queensland, Australia.
Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
Kidney Health Service and Conjoint Renal Research Laboratory, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.


There have been few new therapies for patients with chronic kidney disease in the last decade. However, the management of patients affected by genetic kidney disease is rapidly evolving. Inherited or genetic kidney disease affects around 10% of adults with end-stage kidney disease and up to 70% of children with early onset kidney disease. Advances in next-generation sequencing have enabled rapid and cost-effective sequencing of large amounts of DNA. Next-generation sequencing-based diagnostic tests now enable identification of a monogenic cause in around 20% of patients with early-onset chronic kidney disease. A definitive diagnosis through genomic testing may negate the need for prolonged diagnostic investigations and surveillance, facilitate reproductive planning and provide accurate counselling for at-risk relatives. Genomics has allowed the better understanding of disease pathogenesis, providing prognostic information and facilitating development of targeted treatments for patients with inherited or genetic kidney disease. Although genomic testing is becoming more readily available, there are many challenges to implementation in clinical practice. Multidisciplinary renal genetics clinics serve as a model of how some of these challenges may be overcome. Such clinics are already well established in most parts of Australia, with more to follow in future. With the rapid pace of new technology and gene discovery, collaboration between expert clinicians, laboratory and research scientists is of increasing importance to maximize benefits to patients and health-care systems.


genetic kidney disease; genetic testing; genomic testing; inherited kidney disease


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