New Genetic Test Improves Detection of Glaucoma Risk

Article: Glaucoma test ‘best yet’
Source: Flinders University (Australia), via ScienceDaily
Article: Glaucoma Prediction Improved by New Genetic Test
Source: Genetic Engineering & Biotechnology News
Published: July 16, 2021

Often called the silent thief of sight, glaucoma is a complex eye disease that results from irreversible damage to the optic nerve. Early screening and detection well before vision loss can inform clinical decisions and thereby potentially improve quality of life for patients. This early diagnosis of glaucoma often comes from clinical assessments; however, researchers in Australia are exploring genetic variation as a promising indicator of disease risk stratification. As tested in a sample of 2,507 individuals with open-angle glaucoma from the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG), along with clinical and genetic data from 411,337 individuals in cross-sectional cohort studies from the UK Biobank (between 2006 and 2010), the researchers report that their new genetic test can identify high polygenic risk of glaucoma (top 5% of the population) comparable to heterozygous monogenic risk (specifically for the MYOC p.Gln368Ter variant, the most common single-gene variant known to cause primary open-angle glaucoma), but is more than 15 times more prevalent in the general population (and more than 6 times more common in ANZRAG). The study concludes, "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." In other words, while both monogenic risk and high polygenic risk for open-angle glaucoma are equal, polygenic risk is much more prevalent, and their new genetic test can detect that risk from the contribution of multiple genes. The senior author of the study comments, “Genetic testing is not currently a routine part of glaucoma diagnosis and care, but this test has the potential to change that. We’re now in a strong position to start testing this in clinical trials” to begin in 2022.

My rating of this study: ⭐⭐⭐⭐

Siggs OM, Han X, Qassim A, et al. "Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma." JAMA Ophthalmology.  15 July 2021. https://doi.org/10.1001/jamaophthalmol.2021.2440