SALIVA-BASED GENETIC TEST FOR GLAUCOMA

 

Researchers in Australia have devised a novel glaucoma polygenic risk score (PRS) that identifies those at high risk of losing their sight and prioritizes their treatment. The test performed on blood or saliva can detect the risk of glaucoma in 15-times more people, compared to other tests.

The lead researcher of the study, Associate Professor Owen Siggs, from the Flinders University, was quoted as saying that “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”. This can make genetic testing for glaucoma easier, and more commonly available early in the course of the disease.

The test is based on the premise that genetic variation is an increasingly powerful indicator in disease risk stratification. The study was performed to compare the polygenic and monogenic variants in risk of glaucoma.

The study involved 2507 individuals from the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) and 411337 individuals in cross-sectional cohort studies including individuals of European ancestry in the UK Biobank.

The study reported that monogenic and high polygenic risk were each associated with a more than 2.5-fold increased odds of developing glaucoma and an equivalent mean age at glaucoma diagnosis, with high polygenic risk more than 15-times more common in the general population.

The saliva-based test will change the current one-size-fits-all approach to one of a more personalized approach where high-risk patients are managed with specialist input, while those at a low- and intermediate-risk level can be managed safely and less frequently in optometric primary care.

REFERENCE:

Siggs OM, Han X, Qassim A, Souzeau E, Kuruvilla S, Marshall HN, Mullany S, Mackey DA, Hewitt AW, Gharahkhani P, MacGregor S, Craig JE. Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma. JAMA Ophthalmol. 2021 Sep 1;139(9):1023-1028. doi: 10.1001/jamaophthalmol.2021.2440.