Longevity
Genetic glaucoma test built on 6 million people spots 10x risk before damage starts
By John Hyland, . Life and Health Today.
Open-angle glaucoma, the most common form of the disease and the leading cause of blindness worldwide, typically destroys vision quietly. Damage to the optic nerve produces no pain and no early warning signs, and researchers at QIMR Berghofer and Australia's Flinders University estimate that roughly half of people who develop the condition go undiagnosed for most of their lives, even in countries with strong healthcare access. A new genetic screening tool, reported by New Atlas, is designed to change that by identifying the highest-risk individuals long before any damage appears.
What the test measures and how it works
The tool is a polygenic risk score, a calculation that scans millions of small genetic variations across a person's genome and combines their individual effects into a single number representing overall inherited risk. The new version was built on data from six million people, including around 300,000 with glaucoma, according to New Atlas. The previous version of the same test, developed in 2020 by the same international team, drew on data from roughly 8,000 people with the condition.
Among Australians of European ancestry, people who scored in the top ten percent of genetic risk were ten times more likely to have glaucoma than the general population, according to Professor Stuart MacGregor, head of QIMR Berghofer's Statistical Genetics Laboratory and the study's lead researcher. "To our knowledge, this is the strongest genetic risk prediction reported for any common complex disease," MacGregor said.
Why early detection matters here
Glaucoma is manageable when caught early. The problem is that by the time most people are diagnosed, permanent damage has already occurred. A test that reliably separates high-risk from low-risk individuals could direct monitoring and treatment to those who need it most, while sparing lower-risk people from unnecessary eye exams.
"Glaucoma is very treatable if it is caught early, but many people are diagnosed only after permanent damage has occurred," MacGregor said. "A test like this can help direct eye care resources to the people who need them most."
Professor Jamie Craig from Flinders University added that the research "has opened the door to a personalised approach to glaucoma risk analysis for the population, family members of patients, and those already showing signs of early stage disease," and that it would help clinicians time treatments to prevent vision loss.
What comes next
The test is not yet part of routine screening. The research team's next steps involve developing it for scale and cost-effectiveness so it can be incorporated into general medical checkups, New Atlas reported. MacGregor also acknowledged a significant limitation in the current dataset: most of the large genetic databases used to build the score come from people of European ancestry, and improving accuracy across all populations is, in his words, "an important priority for our next phase of work."
That gap matters. A risk score calibrated primarily on one ancestry group may perform differently in others, and the ten-times-higher-risk figure cited above applies specifically to Australians of European ancestry. Whether the same predictive strength holds across diverse populations remains to be established.
Anyone with a family history of glaucoma or concerns about their own risk should raise the question with an eye care specialist, who can advise on what monitoring is currently available.
Source: https://newatlas.com/aging/common-glaucoma-test-prevent-blindness/
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