Speaker reinforces AAO stance on guidelines for genetic testing
NEW YORK — Complexity of ocular disease determines whether genetic testing should be ordered, according to Edwin M. Stone, MD, who fielded questions in a discussion at the American Ophthalmological Society meeting here.
“There are genetic predispositions to AMD, and a number of gene variants in those genes predispose people to AMD,” Stone said. “Having said that, I think the problem that the community out there is having is separating our understanding of high penetrance Mendelian disease.”
Using Usher syndrome, Leber’s congenital amaurosis and Stargardt’s disease as examples, Stone said, “When you have the variant, you get the disease in a predictable way. … That’s not true for age-related macular degeneration, and I can show you dozens of examples of people who have all low-risk alleles who have terrible AMD and patients who have high-risk allele with no AMD when they’re 75 years old. Therefore, what is the most predictive test for age-related macular degeneration in 2014? Looking at the patient.
“My personal feeling, but also the feeling of a panel of people who were convened by the American Academy of Ophthalmology to look at this question, is that, in 2014, we should not routinely perform genetic testing for common, ie, complex, disorders like AMD and glaucoma.”
Disclosure: Stone has no relevant financial disclosures.