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Monday / March 4.
HomeminewsGenetic screening paves the way for clearer future

Genetic screening paves the way for clearer future

A grant of AU$2.9 million will help roll out a saliva-based genetic test for glaucoma. Developed by ophthalmologists at Flinders University and The Council of the Queensland Institute of Medical Research, the novel glaucoma polygenic risk score (PRS) identifies those at high risk of losing their sight and prioritises their treatment.

Until now, there has been no way to determine who will develop vision loss and how to better manage those at risk of developing glaucoma. Instead, patients are commonly monitored every six months, presenting a major burden to patients and healthcare systems.

The new test will change the current one-size-fits-all approach to one of a more personalised approach where high-risk patients are managed with specialist input, while those at a low- and intermediate-risk level can be managed safely and less frequently in optometric primary care. This will markedly improve patient outcomes, quality of life, and most importantly, timely access to care.

The test will enable a paradigm shift in glaucoma management

“The test will enable a paradigm shift in glaucoma management,” said Professor Jamie Craig, Matthew Flinders Distinguished Professor at the College of Medicine and Public Health at Flinders University.

“This will be Australia’s first validation study of a clinic-ready PRS for glaucoma, with collaboration across academia, primary/specialist care, consumer and industry. It is an exciting new opportunity to give patients an early diagnosis of glaucoma which can then lead to vision-saving treatment.

“Early diagnosis and timely intervention is key, and our strategy will focus on reducing the time it takes for a high risk patient to reach specialist care and intervention. We plan to develop and deliver a scalable approach for the genetic test, ready to be adopted in both community and specialist care settings across urban and regional locations.”

Professor Craig said the project will also evaluate patient and clinician satisfaction, safety and cost effectiveness. “Once widely adopted, PRS will enable clinicians to develop new, and more targeted, interventions and treatments for high-risk glaucoma patients,” he said.

Professor Craig is part of a multidisciplinary and collaborative team of clinician-scientists and researchers who have a world-leading track record in translational glaucoma research and are well positioned to bring about major change to benefit Australians at risk of glaucoma blindness.

The project involves other researchers from Flinders University, University of Tasmania, The Garvan Institute of Medical Research, The Council of the Queensland Institute of Medical Research, University of Western Australia, University of Sydney, University of Adelaide, Macquarie University and University of New South Wales.

Professor Jamie Craig has been awarded more than $30 million in funding and has made important genomic discoveries concerning the commonest causes of blindness: glaucoma, diabetic retinopathy, and age-related macular degeneration. Professor Craig is also an NHMRC Senior Practitioner Fellow and is currently the Matthew Flinders Distinguished Professor of Ophthalmology.

The $2.9 million grant was provided by the Australian Government Medical Research Future Fund (MRFF) Genomics Health Futures.