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.
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.
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