If Your Family has a History of Eye Disease, Do You Need Genetic Testing?

Thanks to news coverage, many people know that if a woman carries certain genes, she has a greatly increased chance of breast or ovarian cancer. Physicians now use genetic tests to decide on treatment for some types of breast cancer. And prenatal genetic screening is common among parents-to-be, especially if they are older than 35. But what about genetic screening for eye diseases?  

If your family has a history of glaucoma, for example, you've probably heard that you're at higher risk and need to have regular check-ups with your ophthalmologist. Certain eye diseases, most of which are rare, are definitely inheritable. Such diseases include retinitis pigmentosa and Leber congenital amaurosis (LCA). If you spend time online you've probably bumped into ads for genetic screening, also called genetic testing.  

At this time,  genetic testing does not help improve diagnosis or treatment of the potentially-blinding eye diseases that are most common in the United States, including primary open-angle glaucoma (POAG) and age-related macular degeneration (AMD).  

The American Academy of Ophthalmology developed the following guidelines to help people separate truth from hype. These will help you avoid unnecessary worry and testing costs.  

  • Avoid direct-to-consumer genetic testing services, whether these are advertised on the web or elsewhere. If you have questions about whether genetic testing might be useful for you or a family member, your ophthalmologist can describe the latest tests available, advise on whether testing might benefit you and if so, connect you with a reputable testing facility. Your ophthalmologist can also explain what the test results mean for you or refer you to a genetic counselor.  
  • Children who have no symptoms or signs of a vision or eye health disorder should not receive genetic testing, except in extraordinary circumstances, such as when there is strong reason to be concerned about an untreatable, inheritable eye disease. In such cases, before testing, the parent and child should receive guidance from a genetic counselor, the physician/counselor ordering the test should state in writing that it is in the family's best interest, and parents or custodians of the child should agree in writing with the decision to perform the test.  

It's always a good idea to check with your ophthalmologist and your other health care providers if you are considering any form of health testing. They can help you understand the purpose of the test and how test results might affect your medical care. They can also point you to reliable health information online and in other formats.

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