New Test for Early-stage Glaucoma Set to Roll Out

An innovative test developed by a world-leading research team has the potential to improve the management and early treatment of glaucoma patients and those at risk of glaucoma.

A $304,000 South Australian State Government seed grant will be used to deploy the new test for use in clinical settings.

The polygenic risk score (PRS) test will enable health professionals to identify individuals at greatest risk of glaucoma, such that they can be prioritised in ophthalmology waiting lists and receive informed clinical care sooner.

Based on world leading research at Flinders University, the QIMR Berghofer Medical Research Institute, SALHN within SA Health, and the University of Tasmania, a blood or saliva sample taken from a patient, the PRS test can be used to assess thousands of different genetic locations, known as single nucleotide polymorphisms (SNPs), to quantify a patient’s genetic risk of developing glaucoma.

Glaucoma is an insidious disease that is asymptomatic in the early stages, with damage to the eye’s optic nerve progressing gradually and unknown to the patient until irreversible vision loss occurs. Fortunately, glaucoma is a treatable condition if discovered early. Eye drops, laser and surgery are all effective interventions that can stabilise the condition, slowing or preventing disease progression.

However, detecting early-stage glaucoma is challenging using current technology, as is predicting which glaucoma patients will progress to severe vision loss. Some patients whose sight could have been saved are treated too late, while other patients who will never develop severe glaucoma are unnecessarily investigated, monitored and treated.

Published in the prestigious international journal, Nature Genetics, the PRS is the first test able to estimate glaucoma risk sufficiently accurately for clinical use, says Lead author and ophthalmologist Professor Jamie Craig from Flinders University.

“Our world leading research represents a step change in the clinical assessment of glaucoma risk. A patient with a high risk (top decile) PRS is 15x more likely to develop glaucoma than a patient at low risk (bottom decile). Moreover, a glaucoma patient with a high risk PRS is significantly more likely to develop severe vision loss. Optometrists and ophthalmologists have been lacking tools to assess glaucoma risk, and our PRS has a significant role to play.”