DEC 01, 2013
Question: I have seen ads in various journals and have been approached by industry representatives regarding genetic testing that is now commercially available for a variety of inherited ocular disorders. The companies claim that these tests would allow me to identify patients who are at increased risk of developing disorders such as wet AMD, but I understand that the Academy is against such testing. Please clarify the Academy’s position and how I can responsibly incorporate genetic testing into my practice.
Answer: In November 2012, the Academy Task Force on Genetic Testing published Recommendations for Genetic Testing of Inherited Eye Diseases. The report discussed the following considerations:
• Each patient to whom genetic testing is recommended should receive genetic counseling both before and after the testing. If the physician is not qualified to provide such counseling, it should be performed by a certified genetic counselor.
• Direct-to-consumer genetic testing should be avoided, as it does not allow for counseling and appropriate interpretation of results.
• Genetic testing of individuals with presumed mendelian disorders for which the genetic basis is known and for whom genetic confirmation of the diagnosis is desired is appropriate. Such clinical testing should be performed in a CLIA-certified laboratory.
• Routine genetic testing of patients with complex disorders such as AMD and late-onset POAG is discouraged until results show benefit to patients in terms of optimizing surveillance or treatment strategies.
• Genetic testing of presymptomatic minors who may have inherited an untreatable disorder should be avoided unless the ophthalmologist and genetic counselor believe that it is in the family’s best interest, and both parents are in agreement.
For more information or to submit a question, contact the Ethics Committee staff at ethics@aao.org.