AAO releases genetic testing guidelines

Noting the risks associated with genetic testing, the American Academy of Ophthalmology has crafted a series of recommendations regarding its use in individuals and families with inherited eye disease.

"The results of a genetic test can affect a patient's plans to have children, create a sense of anxiety or guilt, and even perturb a patient's relationships with other family members," the AAO clinical statement said.

When genetic testing is performed and interpreted properly, the statement noted, it can reduce the risk of disease occurrence or recurrence, improve the accuracy of diagnoses and prognoses, and aid in the delivery of mechanism-specific care.

To maximize the benefits of genetic testing and minimize any negative impact, the AAO urged ophthalmologists to provide all individuals undergoing genetic testing with access to skilled counseling.

The AAO released the following seven specific recommendations:

Offer genetic testing to patients with clinical findings suggestive of a Mendelian disorder whose causative genes have been identified.
Use Clinical Laboratories Improvement Amendments approved laboratories for all clinical testing.
Provide a copy of each genetic test report to the patient so that she or he will be able to independently seek mechanism-specific information, such as the availability of gene-specific clinical trials, should they wish to do so.
Avoid direct-to-consumer genetic testing and discourage patients from obtaining such tests themselves.
Avoid unnecessary parallel testing — order the most specific tests available.
Avoid routine genetic testing for genetically complex disorders such as age-related macular degeneration and late-onset primary open-angle glaucoma.
Avoid testing asymptomatic minors with untreatable disorders except in extraordinary circumstances.