OCT 2012

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October 2012 Retina "Maybe one day when we figure it out and there is a treatment or prevention, then we can test younger patients," she said. For now, for both of the tests, patients who have drusen, the earli- est sign of macular degeneration, are covered by insurance if they're over 65, Dr. Holekamp said. For those under 65, it's a little less certain if insurance will cover the tests, but both companies have programs so people can afford them if their in- surance doesn't cover them, she added. In general, Dr. Holekamp said she recommends only testing pa- tients if you feel it will improve your management of their condition. "If I have someone who is relatively young, has a very strong family history, has drusen, and is worried about the future, and [the patient] asks for the test, I will test him," she said. Dr. Holekamp said sometimes she uses the test to verify her suspi- cions that a patient previously diag- nosed as having AMD does not actually have it. "Sometimes the risk comes back so incredibly low that I don't think they have macular degeneration and I take them off the vitamins, but they have some other diagnosis," she said. Dr. Hageman said he mainly sees three different groups of pa- tients interested in the test. One group consists of patients with early stage AMD who want to know what their chance of developing wet stage AMD is within their lifetime. Another group consists of patients who already have AMD and want to know what the risk is for their fam- ily members. The third group would be patients in their 40s and 50s who have a grandparent or parent with the disease and want to know their risk. The advantages of testing Dr. Hageman said that one impor- tant advantage of finding out if pa- tients are at high risk of developing AMD is that they are more likely to monitor their vision closely and see an ophthalmologist if any sudden changes occur. In papers he published with Robyn Guymer, Ph.D., deputy direc- tor, Centre for Eye Research Aus- tralia, East Melbourne, Australia, Dr. Hageman and colleagues showed that one of the most important fea- tures when a patient develops wet disease is the speed at which the first dose of anti-VEGF is received, he said. "We were able to show that a month delay made a tremendous difference in the final outcome." Adoption by the medical community Despite the possibility of increasing early detection, the tests have not been readily adopted by the oph- thalmology or retina communities, Dr. Holekamp said. A lot of retina specialists aren't convinced of the value of knowing the genetics partic- ularly because there aren't any pre- vention strategies, she said. In addition, many retina spe- cialists feel that they know who's at risk for disease just by examining the retina; they say they can look at the phenotype to determine who's at risk or not, and they don't need the genotype, which is really the DNA or the genetic material, Dr. Holekamp said. "What they don't realize is the genotype determines phenotype and phenotype changes over life, but genotype always stays the same. I think it will take some time to figure out how to use this for maximal benefit to the patients, and it re- mains to be seen how widely and how deeply it will be adopted into clinical practice," she explained. Dr. Hageman said he's excited about the future of these tests. While the tests currently look at one's risk of developing the wet form of AMD, Dr. Hageman said that the Phase II and Phase III tests will look at the disease's actual progres- sion over time. They'll also look at geographic atrophy as an outcome, he said. EW Editors' note: Dr. Hageman has finan- cial interests with Sequenom Center for Molecular Medicine. Dr. Holekamp has no financial interests related to this article. Contact information Hageman: 801-213-2174, Gregory.hageman@hsc.utah.edu Holekamp: 636-728-0111, nholekamp@gmail.com

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