Genetic testing – changing the way we treat kidney disease

11 March 2021
Kidney Research

Kidney disease impacts 1.7 million Australians each year, with Chronic Kidney Disease (CKD) being the most common form of kidney disease. CKD is a condition characterized by a gradual loss of kidney function over time. CKD is increasingly recognised as a major burden on our health systems and even more so on those affected by it.

Over 50% of childhood kidney disease has a genetic cause. Until recently, the development of new therapies for CKD has been challenging. Now, with genetic testing (gene therapy) and newer technologies pushing boundaries in research we are set to see significant change in the treatment of CKD.

A major milestone in the treatment of kidney disease is detailed in a recently published study, pulled together by first year medical student, Hope Tanudisastro and led by the team at Centre for Kidney Research at Kids Research and Departments of Molecular Genetics and Nephrology at Children’s Hospital at Westmead, Sydney Children’s Hospitals Network (SCHN), as well as the team at KidGen.

Prof Stephen Alexander, Dr Hugh McCarthy and Dr Gladys Ho have developed a world class diagnostic kidney-specific genetic sequencing platform for use by patients throughout Australia and New Zealand. The study looked into the results of genetic testing in 552 individuals (adult and paediatric patients) from 542 families with suspected kidney disease. The results show an overall diagnostic rate of 35% having a form of kidney disease.

Genetic testing has moved rapidly from a specialized test to routine practice in clinical settings. Early diagnosis of kidney disease through genetic testing is changing the way we are able to treat this chronic disease with early family planning, genetic counseling and better targeted treatments – Dr Hugh McCarthy, Paediatric Nephrologist and Clinician Researcher at SCHN.

Additionally, this allows the opportunity to work with patients and families to identify unmet needs of families undergoing genetic testing for kidney disease. Prof Allison Tong and Dr Hugh McCarthy are currently working with families to understand this and develop better models of care that will benefit the community going forward.

For the full study, click here

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