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July 19, 2021updated 22 Mar 2022 7:08am

Flinders University develops genetic test for glaucoma

The latest test is carried out with a blood or saliva sample to potentially detect the disease prior to irreversible vision loss.

Researchers at Flinders University in South Australia have found that a new genetic test for glaucoma could detect 15 times more individuals at increased risk of the disease than a current genetic test.

The findings are from a study conducted as part of a long-term partnership between Flinders University, the QIMR Berghofer Medical Research Institute, and other global partners to detect genetic risk factors for glaucoma.

In the cross-sectional study of monogenic and polygenic variants related to the disease, the new genetic test was evaluated in 2,507 glaucoma patients in Australia and 411,337 people with or without glaucoma in the UK.

The test, conducted using a blood or saliva sample, could potentially detect individuals at increased risk before irreversible vision loss happens, the university noted.

Data showed that subjects with open-angle glaucoma and high polygenic risk were linked to a higher chance of developing the condition, which is comparable with the risk associated with the single-gene pathogenic variant.

This risk was nearly 15 times more predominant in individuals with polygenic variants than those with single gene variants.

Flinders University professor Jamie Craig said that the latest study indicates the test’s potential to be used for screening and management of glaucoma.

Craig noted: “Genetic testing is not currently a routine part of glaucoma diagnosis and care, but this test has the potential to change that. We’re now in a strong position to start testing this in clinical trials.”

The research team plans to launch a spin-out company to create an accredited test, which will be analysed in clinical trials.

Subject enrolment in this trial is anticipated to commence next year.

Flinders University associate professor Owen Siggs said: “Early diagnosis of glaucoma can lead to vision-saving treatment, and genetic information can potentially give us an edge in making early diagnoses, and better treatment decisions.”

The National Health and Medical Research Council (NHMRC) and the Rebecca L Cooper Medical Research Foundation funded the study.

A progressive eye disease, glaucoma is a major cause of irreversible blindness in Australia.

As it is hereditary, people with a direct family member with glaucoma have ten times increased chances of developing the disease.

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