Toward Genetic Screening for Glaucoma: using data-driven strategies to screen for and study ocular disorders in cohort settings

Glaucoma is the second-leading cause of blindness in the world. It is a slow, insidious, and irreversible disease. Up to half of people with glaucoma are not aware of it. That delays diagnosis and that is dangerous, precisely because we cannot undo the damage that glaucoma does to the eye, but we can slow it down. Glaucoma patients tend to first lose their peripheral vision and vision in poor light; we can take this information, in the form of everyday questions like “do you struggle to see things off to the side while going for a walk?” to create a way to identify people who may have glaucoma, even those who may not know it. When we ask these, and other, questions to a lot of people in the population, we can find out if glaucoma is linked to other things, like issues with the heart or ringing in the ears. Looking at a lot of data from a lot of people is called “big data”. We can also use big data to see who may get glaucoma based on their genetic risk. Genes are not the only deciding factor when it comes to glaucoma, but we can use genetic knowledge to determine who may be at a higher risk for developing glaucoma. We can screen people with a high genetic risk for glaucoma and take action early and preserve their sight for longer. A study investigating the value of such an approach is currently underway.