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OSN Retina 150
Survey of 150+ leading retina specialists edited by Andrew A. Moshfeghi, MD, MBA.
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Survey questions
The AAO recommends avoiding routine genetic testing for genetically complex disorders such as age-related macular degeneration in recently issued specific recommendations for genetic testing of inherited eye diseases. For approximately what percentage of your overall patient base do you recommend genetic testing?
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 Jay S. Duker |
I would estimate that I order genetic testing on 1% of the patients I see. At present, outside of a clinical trial, the only utility of genetic testing is in the setting of an unclear clinical presentation (for example, Stargardt’s disease vs. pattern dystrophy or Best’s disease vs. adult vitelliform) for which genetic testing is available to confirm one diagnosis over the other.
While genetic testing for the high-risk alleles associated with age-related macular degeneration is available, the results should not alter our current practice or our patient education with respect to modifiable risk factors.
– Jay S. Duker, MD
Disclosure: No products or companies are mentioned that would require financial disclosure.
Do you agree or disagree with the AAO’s specific recommendations?
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 Antonio Capone |
Even though physicians and patients are intrigued with the notion, with rare exception there is as yet little meaningful therapeutic utility to genetic testing. Such evaluation is particularly unsatisfying for multifactorial and polygenetic diseases, with age-related macular degeneration being the most notable example. Furthermore, despite the promise of diagnostic specificity, genetic testing is not uniformly superior to clinical evaluation (Marfan syndrome, for example). Practical indications for testing include diseases that are vision threatening or have systemic consequences that can be clearly associated with one or a defined set of genetic abnormalities (Gardner syndrome and Norrie disease, for example) likely to impact the patient or the patient’s relatives. There will be a day, likely soon, when genetic testing will have a pivotal role, not only for diagnosis but also in guiding therapy.
– Antonio Capone Jr., MD, FACS
Disclosure: No products or companies are mentioned that would require financial disclosure.
 Michael Singer |
Right now genetic testing has limited value. Obviously, I’ll do genetic testing on people who have inherited diseases, but the problem is that because many diseases have multiple associated genetic mutations and also variable expression of those genes, it is often difficult to correlate a given gene with severity or even presence of disease. Many retinal diseases like macular degeneration are influenced not only by genes, but also by environment, age, diet and other factors that we may not even be aware of.
Until we identify genes and loci with some predictive value, genetic testing is of limited clinical benefit. So if I know a patient has a particular gene that may or may not lead to disease, it is difficult to counsel that person going forward. Clinical trials are under way that may improve our ability to predict the future. I am involved in the GALLEY study (Clinical Trial NCT0146710), which is looking at different genes to see if there is a genetic association with the conversion of dry macular degeneration to wet macular degeneration.
I truly believe that there will be great value in genetic testing in the future, but I think it is just too early. Genetic information is very specific, but until we can translate that information into a predictive use, its value remains limited.
– Michael Singer, MD
Disclosure: No products or companies are mentioned that would require financial disclosure.