Featured News Next-gen testing opens the way to beating kidney disease

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Fri, 4 Feb 2022

Next-gen testing opens the way to beating kidney disease

Test kit

James Cook University researchers are developing a way to use advances in genetic testing to predict Chronic Kidney Disease (CKD) and provide faster and better testing for those living in remote places.

Ulf Schmitz is an Associate Professor in Bioinformatics at JCU and lead investigator on the project. He said an estimated 1.7 million Australian adults had signs of CKD in 2011-12, including 1 in 5 Indigenous adults.

“It’s a growing health problem in the tropics. Among the risk factors associated with CKD are ageing, smoking, and obesity. However, apart from lifestyle-related risk factors, CKD is a heritable disease and an estimated 30-75 per cent of cases are linked to genetic susceptibly,” said Dr Schmitz.

He said with the help of new seed funding from the Tropical Australian Academic Health Centre, the scientists and clinicians will trial a portable, rapid, and targeted genomic test to find genetic variants that predispose people towards CKD.

He said genetic screening in the tropics is associated with unique challenges, especially in places where healthcare facilities are limited.

“A mobile solution that doesn't require more than a test kit, a laptop, and a pathology lab at the other end of the chain can bring next- generation genomics testing into those communities and help detect diseases such as CKD earlier,” said Dr Schmitz.

The research is possible thanks to new and deepening collaborations between scientists and clinicians at JCU and Townsville University Hospital.

“This is outstanding translational research only possible thanks to the co-location of clinicians, scientists and cutting-edge technology here in Townsville. It’s a great step towards benefiting the many community members across Northern Australia affected by kidney disease,” said Professor Andrew Mallett, who is a nephrologist and investigator on the project.

He said the research has the potential to provide benefits to a much wider group of patients around Australia and Oceania.

“The other aspect of the research will stem from the fact that the known causes of CKD, including genomic variants, can only partly or wholly explain 45 per cent of all cases. So, we will also be looking for new genetic variants that explain or contribute to the remainder,” said Dr Schmitz.

He said timely genomic diagnoses of CKD can prevent unnecessary interventions and can trigger screening of other family members and early delivery of targeted treatments, reducing disease morbidity, mortality, and cost.

“Advances in next-generation sequencing have created possibilities for population-based, rapid genetic testing to help solve a problem which poses an increasing burden on the North Queensland population and unequally affects Indigenous Australian peoples,” said Dr Schmitz.

The program will run until the end of 2023.


Associate Professor Ulf Schmitz
E: ulf.schmitz@jcu.edu.au