Purpose of review: To review recent trends in genetic testing in medicine as they apply to newly evolving tests for patients with glaucoma.
Recent findings: The utilization of powerful molecular methods for genetic testing is now entering its early stages in the practice of medicine in general, and with testing, many issues, both medical and societal, have been raised. Only recently has testing for a disease risk factor in primary open angle glaucoma (POAG) become available. It is known that some mutations in the gene myocilin are associated with POAG. MYOC.mt1 is a relatively common promoter region variant in the myocilin gene for which there is a commercially available test. Some investigators have found that MYOC.mt1 may increase disease severity in patients with POAG, whereas others have not found this association. There is a need for further testing for the role of the MYOC.mt1 variant in the pathogenesis of POAG.
Summary: Genetic testing for glaucoma holds great promise. Currently available tests for disease-related tests in patients with glaucoma or at risk for this disease remain controversial.