Genetic information helps predict the onset and progression of glaucoma

Glaucoma is the leading cause of irreversible visual impairment worldwide. Because the disease often progresses without symptoms for years, many patients are diagnosed only after permanent damage to the optic nerve has already occurred. Earlier detection through targeted screening could help prevent vision loss.

A new study based on the FinnGen dataset, which includes hundreds of thousands of Finnish participants and more than 21,000 individuals with glaucoma, demonstrates that genetic information can be used to identify people at particularly high risk of developing the disease. The paper is published in the journal Ophthalmology.

The researchers calculated a polygenic risk score for each participant by combining the effects of numerous genetic variants associated with glaucoma. Based on these scores, the population could be divided into groups with markedly different lifetime risks of developing the disease.

Among individuals whose polygenic risk score ranked in the highest 1% of the population, nearly half developed glaucoma during their lifetime. In contrast, fewer than three out of every 100 individuals in the lowest 1% risk group developed the disease.

The polygenic risk score also predicted disease severity after diagnosis. Patients with a high genetic risk were more likely to require additional medications, laser treatments and glaucoma surgery than those with a low genetic risk.

“Our findings show that genetic risk information can identify individuals at increased risk of glaucoma decades before the disease develops. In the future, this could enable more targeted screening and earlier diagnosis for those who would benefit most,” says ophthalmologist and adjunct professor Joni Turunen from the University of Helsinki, HUS Eye Clinic and the Folkhälsan Research Center.

Toward the use of personalized genetic risk information in health care

Traditionally, inherited susceptibility to glaucoma has been assessed based on family history. However, the study found that polygenic risk scores provide a substantially more accurate estimate of an individual’s genetic risk than information on whether close relatives have developed the disease.

“A polygenic risk score combines the effects of numerous genetic variants across the genome into a single measure of genetic risk. Our study demonstrates that genetic information could significantly complement current methods for risk assessment,” says Nina Mars, one of the senior authors of the study from the Institute for Molecular Medicine Finland (FIMM), University of Helsinki.

“To our knowledge, this is one of the largest studies in the world to evaluate both the association of polygenic risk with glaucoma incidence and disease prognosis within the same dataset. These results provide a strong foundation for incorporating genetic risk information into future screening programs,” says Eemeli Tusa, a medical student and doctoral researcher at the University of Helsinki, who conducted the study.

According to the researchers, the next important step is to investigate in prospective follow-up studies how polygenic risk information can be integrated into routine health care and whether risk-based glaucoma screening is cost-effective.

The research was carried out in collaboration among researchers from the Institute for Molecular Medicine Finland (FIMM) at the University of Helsinki, the Folkhälsan Research Center and the HUS Eye Clinic.

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