Subspecialties Glaucoma, Basic & Translational Research

Diagnosis: Glaucoma

Single gene testing may not be sufficient to identify a high risk of glaucoma

Geoffrey Potjewyd | 07/30/2021 | Quick Read

A new genetic test that factors in both polygenic and monogenic glaucoma risk variants could result in a 15-fold increase of people being identified as glaucoma suspects (1). Researchers analyzed the association of monogenic and polygenic variants with glaucoma risk – using clinical and genetic data from an Australian/New Zealand glaucoma database (ANZRAG, containing data from 2,507 individuals) and from the UK Biobank (data from 411,337 individuals). Both polygenic and monogenic variants have a comparable risk of developing glaucoma – over a 2.5-fold increase. But high-risk polygenic variants were six times more common than monogenic variants within the ANZRAG database – and more than 15 times more common within the general population (UK Biobank) data.

Although single gene testing is used clinically, a stratified approach of monogenic and polygenic testing will increase opportunities to save patients’ sight.

Subspecialties Glaucoma, Basic & Translational Research

OM Siggs et al., JAMA Ophthalmol, [Online ahead of print] (2021). PMID: 34264281.

Geoffrey Potjewyd

Associate Editor, The Ophthalmologist

The lion’s share of my PhD was spent in the lab, and though I mostly enjoyed it (mostly), what I particularly liked was the opportunity to learn about the latest breakthroughs in research. Communicating science to a wider audience allows me to scratch that itch without working all week only to find my stem cell culture has given up the ghost on the Friday (I’m not bitter). Fortunately for me, it turns out writing is actually fun – so by working for Texere I get to do it every day, whilst still being an active member of the clinical and research community.