Guidelines for Genetic Testing from the American Academy of Ophthalmology

Fresh from a presentation at November’s American Academy of Ophthalmology meeting, UI ophthalmologist Ed Stone, MD, PhD, outlines seven guidelines for clinicians new to the practice of genetic medicine.

  1. Ensure that the patient receives counseling from a physician with expertise in inherited diseases.
  2. Use Clinical Laboratories Improvement Amendment-approved (CLIA) laboratories for all genetic testing.
  3. Give patients a copy of test reports for use in seeking additional information and potential clinical trials.
  4. Discourage use of direct-to-consumer genetic testing.
  5. Order the most specific tests available to suit the patient’s clinical findings.
  6. Avoid routine genetic testing for genetically complex disorders like age-related macular degeneration and late-onset primary open-angle glaucoma until specific treatment or surveillance strategies have been shown.
  7. Avoid testing asymptomatic minors for untreatable disorders except in extraordinary circumstances.

According to Dr. Stone, "One of the things that will help us get to widespread use of genetic knowledge to prevent disease will be to think about genetic testing as an integrated part of medical care—not as some disconnected activity. If we do that, and if we constantly think about how to squeeze the greatest clinical and research value out of each dollar of genetic investigation, genetic technology will have a greater impact on medicine than the discovery of microorganisms."

For more information about the AAO genetic testing guidelines that Dr. Stone helped draft, download the AAO Report: Recommendations for Genetic Testing of Inherited Eye Diseases at http://one.aao.org/asset.axd?id=acd5d472-4c6a-4dcf-af16-c8287adc2dc2.