QIMR Berghofer polygenic score identifies people with up to 10 times higher glaucoma risk
A polygenic risk score built on data from 6 million people, according to the authors, singles out those most likely to develop open-angle glaucoma, which often goes undiagnosed.
Researchers at QIMR Berghofer and Flinders University in Australia, together with international collaborators, have substantially improved a genetic test for glaucoma risk, according to qimrb.edu.au. qimrb.edu.au
qimrb.edu.auqimrb.edu.auOpen source ↗ The study was published in the journal Ophthalmology. The test is based on a polygenic risk score, which combines the effects of millions of genetic variants into a single value.
How the test was built
The new version draws on data from 6 million people, including people with glaucoma. The 2020 version was built on data from only 8,000 people with the condition. The test is aimed at open-angle glaucoma, the most common form of the disease and the one responsible for the highest rate of blindness worldwide.
Damage to the optic nerve usually causes no symptoms in the early stages. The scientists believe that around half of those who develop glaucoma live most of their lives undiagnosed, even in countries with good access to medical care.
What the results show
According to lead researcher Professor Stuart MacGregor, head of the Statistical Genetics Laboratory at QIMR Berghofer, Australians of European ancestry in the highest 10% of genetic risk were 10 times more likely to have glaucoma than everyone else. qimrb.edu.au
qimrb.edu.auqimrb.edu.auOpen source ↗ He said that, to the authors' knowledge, this is the strongest genetic risk prediction reported for any common complex disease.
The authors suggest the test could identify people who need early monitoring and intervention, and could spare people with low genetic risk from unnecessary eye exams. Professor Jamie Craig of Flinders University said the work opens the way to a personalised approach to glaucoma risk analysis for the general population, relatives of patients and people with early-stage disease.
The authors note a limitation: most large genetic datasets come from people of European ancestry, and improving accuracy for other populations is a priority for the next phase. The researchers also plan to work on making the test scalable and cost-effective so that it could become part of general medical screening.
