Health Australia (Commonwealth Union) – Australia is set to introduce a groundbreaking genetic test for glaucoma, aiming to revolutionize the identification and prioritization of treatment for individuals at a heightened risk of vision loss due to this eye condition.
Glaucoma encompasses a range of eye disorders capable of causing vision impairment and blindness by harming the optic nerve at the back of the eye. Globally, it stands as a leading cause of blindness, characterized by challenges in prediction and diagnosis. Often, individuals fail to receive early diagnosis and treatment before irreversible vision damage takes place.
Researchers of the study point out that on prior occasions, there was no effective means of predicting who might suffer vision loss or determining optimal management strategies for those at risk of developing glaucoma. The conventional approach involved monitoring individuals every six months, posing a significant burden on both patients and healthcare systems.
Ophthalmologists affiliated with Flinders University and The Council of the Queensland Institute of Medical Research have developed an innovative glaucoma polygenic risk score (PRS). This score identifies individuals at a heightened risk of vision loss and prioritizes their treatment. The Australian Government Medical Research Future Fund (MRFF) Genomics Health Futures has granted $2.9 million to facilitate the nationwide implementation of this test.
The test, which utilizes saliva samples, represents a departure from the traditional one-size-fits-all approach. Instead, it ushers in a personalized strategy wherein high-risk patients receive specialized management, while those at low and intermediate risk can be safely and less frequently monitored in optometric primary care settings. This shift is anticipated to significantly enhance patient outcomes, quality of life, and, crucially, the prompt accessibility of care.
Professor Jamie Craig, the Matthew Flinders Distinguished Professor at the College of Medicine and Public Health at Flinders University, asserts, that the test will enable a paradigm shift in glaucoma management.
“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 indicated that the project will assess not only patient and clinician satisfaction but also safety and cost-effectiveness. He envisions that once widely adopted, Polygenic Risk Scores (PRS) will empower clinicians to develop innovative and precisely targeted interventions and treatments for individuals at high risk of glaucoma-related vision loss.
Professor Craig is an integral part of a multidisciplinary and collaborative team comprising clinician-scientists and researchers. This team boasts a world-leading track record in translational glaucoma research, poised to instigate significant changes that will greatly benefit Australians facing the threat of glaucoma-induced blindness.
This collaborative endeavor involves researchers from esteemed institutions such as 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, having secured over $30 million in funding, has been instrumental in making pivotal genomic discoveries related to the most prevalent causes of blindness, namely glaucoma, diabetic retinopathy, and age-related macular degeneration. Notably, he holds the prestigious position of NHMRC Senior Practitioner Fellow and currently serves as the Matthew Flinders Distinguished Professor of Ophthalmology.
As Glaucoma is a pressing issue across the world ophthalmologists are likely closely follow the study.
