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Australian genetics study paves way for glaucoma blood test

Australian researchers have identified 107 genes that increase the risk of glaucoma and developed a genetic test to detect people at risk of going blind from the condition.  

The research team, led by QIMR Berghofer Medical Research Institute and Flinders University, now wants to recruit 20,000 people with a personal or family history of the disease for a Genetics of Glaucoma Study to discover other genes that play a role.

“We want to know who will get glaucoma, and for those who are susceptible, we want to be able to pinpoint at what age they’re going to get it,” Associate Professor Stuart MacGregor, lead researcher and the head of QIMR Berghofer’s Statistical Genetics Group, said.

“That would allow us to develop a personalised approach for earlier treatment of high-risk individuals and means people at lower risk could have less intensive monitoring and treatment.  This would have benefits for patients, doctors and the health care system with reduced interventions and reduced costs.”

A present, MacGregor said the newly identified genes have led to the development of a glaucoma polygenic risk score (PRS) that predicts a patient’s likelihood of developing the disease.

“Our study found that by analysing DNA collected from saliva or blood, we could determine how likely a person was to develop the disease and who should be offered early treatment and/or monitoring.

“Importantly, unlike existing eye health checks that are based on eye pressure or optic nerve damage, the genetic test can be done before damage begins.”

Professor Jamie Craig, clinical lead researcher and chair and academic head of the Department of Ophthalmology at Flinders University, said the study results offer hope for mass screening for glaucoma in future.

“Early detection is paramount because existing treatments can’t restore vision that has been lost, and late detection of glaucoma is a major risk factor for blindness,” said Craig, who is also a consultant ophthalmologist.

“Glaucoma can arise at any age but most of those affected are in their 50s or older, so our ultimate aim is to be able to offer blood tests to people when they turn 50 so they can find out if they are at risk, and then hopefully act on it.

“In most cases, glaucoma can be treated easily using simple eye drops, but this test is likely to be helpful in identifying those who would benefit from more aggressive intervention such as surgery.”

The study findings can be accessed on the Nature Genetics website.