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Genetic testing for AMD may offer little value to individual patients

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WAILEA, Hawaii — While there is no question about the link between genetics and risk for age-related macular degeneration, the value of knowing specifics may not be as important for individual patients, a speaker said here.

The AREDS prediction model, which focuses on patient phenotype, is the most information that is generally needed in order to predict AMD, Andrew P. Schachat, MD, said at Retina 2012.

"AREDS is a tremendous predictor," Dr. Schachat said. "So the question on the table is ... if you add genetic information into the mix, how much better prediction can you give?"

While the prediction might be marginally better, he said, it is important to consider the cost and time it takes to collect the information, along with the effort to review and process it. Then, it needs to be considered whether patients would behave differently if they are given a prediction that is only slightly more accurate than the AREDS model.

"For individual patients, it's probably not worth going through that. But if you want to consider that information when you're designing a clinical trial, there the event rate, the chance that something's going to happen, is terribly important and really affects the sample size," Dr. Schachat said.

Considering subjects' genetic information would allow a study that might have otherwise needed 1,000 patients to need as few as 600, he said.

"Genetics do participate in predicting the risk of AMD progression," Dr. Schachat said. "But clinical testing [of individuals] is really of little value. ... The AREDS simple system is really quite sufficient."

• Disclosure: Dr. Schachat is a member of the board of trustees of the American Academy of Ophthalmology.

Hawaiian Eye and Retina 2013 will be held January 20-25, 2013, at the Hilton Waikoloa Village on Hawaii's Big Island. Learn more at OSNHawaiianEye.com or RetinaMeeting.com.