Dear Colleagues:
The accelerated pace of molecular discoveries during the past two decades, coupled with an evolving “precision medicine” model in healthcare, are fueling an increase in the number of people who undergo genetic testing. In Ophthalmology, genetic testing is still in its early stages, but already is transforming our ability to pinpoint the cause of some inherited eye diseases that result from single gene mutations, such as retinitis pigmentosa. In many cases, genetic testing can help your patients and their families better understand their risk for disease, likelihood of disease progression, and options for treatment. It can also help them make more informed decisions about their health.
Sensitive and specific genetic tests now exist for dozens of inherited eye diseases. In this issue of Eye Insights we explore what tests are available, and provide guidelines for assessing when genetic testing may benefit your patients and how it can be incorporated into your clinical care practice.
The Harvard Ophthalmology Ocular Genomics Institute (OGI), based at Massachusetts Eye and Ear, offers comprehensive genetic diagnostic testing for inherited eye diseases, including inherited retinal degenerations, early-onset glaucoma, and primary optic atrophy, via several Genetic Eye Disease (GEDi) tests. As described in a paper published in the journal Genetics in Medicine, analyses performed by the OGI team show that GEDi testing provides more accurate diagnoses than other testing methods; this can improve genetic counseling and facilitate the use of focal ocular treatments and therapies, including gene therapies. Our service is CLIA-certified, and we invite you to learn more.
Joan W. Miller, MD, FARVO
Henry Willard Williams Professor of Ophthalmology
Chair, Harvard Medical School Department of Ophthalmology
Chief of Ophthalmology, Massachusetts Eye and Ear and
Massachusetts General Hospital