A world‑first targeted screening program using accredited polygenic risk score (PRS) testing to pinpoint which relatives of glaucoma patients face the greatest genetic risk has been backed by an AU$939,500 National Health and Medical Research Council (NHMRC) Partnership Project.
By combining PRS results with comprehensive eye examinations and a recall system to support follow‑up for high‑risk individuals, the national health initiative, led by Flinders University, aims to detect glaucoma earlier, begin treatment sooner and prevent avoidable blindness.
Chief investigator – Co-Director of the Flinders Health and Medical Research Institute Eye and Vision Flagship, Professor Jamie Craig, from the College of Medicine and Public Health – will lead the initiative with partners Seonix Bio, Southern Adelaide Local Health Network (SALHN) and Glaucoma Australia. Prof Craig is the founder of Seonix Bio.
“Glaucoma is highly hereditary, yet we currently lack precise tools to identify which relatives are genuinely at risk,” said Prof Craig.
The program will engage a large cohort of Australians with a family history of glaucoma, offering personalised genetic risk results alongside detailed eye assessments
Collaborative Effort to Prevent Avoidable Blindness
“This program brings together cutting‑edge genetic testing, clinical expertise and patient‑centred resources to deliver earlier diagnosis and intervention. It represents a major step forward in preventing avoidable blindness.”
The program will engage a large cohort of Australians with a family history of glaucoma, offering personalised genetic risk results alongside detailed eye assessments.
High‑risk participants will receive tailored reminders and follow‑up pathways, helping reduce drop‑off from care, which is a key contributor to preventable vision loss.
The initiative will also produce new national clinical guidelines for the use of glaucoma PRS testing, education resources for eye care professionals, and clear, accessible information for patients and families to support widespread adoption across Australia.
Seonix Bio, Australia’s first provider of clinically accredited glaucoma PRS testing, will generate the accredited genetic risk reports used to guide clinical screening decisions.
SALHN and its network of ophthalmologists and community optometrist partners will deliver clinical assessments across metropolitan, regional and interstate locations.
Driving Consumer Engagement
Glaucoma Australia, the nation’s leading glaucoma advocacy organisation, will drive consumer engagement, resource distribution and communication with families affected by the disease.
Dr Sinead O’Connell, Vice President of Operations at Seonix Bio, said the partnership will accelerate real‑world impact.
“SightScore, our accredited polygenic risk score, is already helping clinicians identify individuals at significantly elevated risk of glaucoma. This project is an important opportunity to embed this technology into routine practice and deliver real‑world benefits to families affected by the disease,” said Dr O’Connell.
Flinders researchers said the collaboration between genetic scientists, clinicians, educators and consumer advocates will drive meaningful, long‑term impact.
“This is about giving Australians the knowledge, tools and clinical pathways to protect their sight before damage occurs,” said Prof Craig.
“It’s another example of Australian‑led innovation setting a new benchmark for eye-care prevention, with benefits that will be felt for generations.”
The NHMRC Partnership grant (GNT2053517) ‘New targeted glaucoma screening program for high genetic risk individuals’ was one of nine new NHMRC Partnership Project grants announced, totalling $13.7 million. An additional $17.4 million was committed to the Project by funding partners in late June.
With glaucoma affecting almost 400,000 Australians – and half of them unaware they have it – it is hoped that targeted action using the screening program will be effective in reaching the thousands of people at highest risk.
Up to one in four Australians with a family history of glaucoma will develop the disease, making them up to nine times more likely than the general population to experience vision loss. Early diagnosis is critical, yet current screening approaches cannot reliably identify who within a family is most at risk.
