AAO releases genetic testing guidelines

San Francisco-The American Academy of Ophthalmology (AAO) has issued recommendations to help ophthalmologists optimize the benefits and minimize the risks of genetic testing.

The organization notes that genetic tests can improve the accuracy of diagnoses and prognoses, improve the accuracy of genetic counseling, reduce the risk of disease occurrence or recurrence in families at risk, and facilitate the development and delivery of mechanism-specific care. They can also affect a patient’s plans to have children, create a sense of anxiety or guilt, and even strain a patient’s relationships with other family members. Therefore, skilled counseling should be provided to all individuals who undergo genetic testing.

AAO’s recommendations for ophthalmologists:

• Offer genetic testing to patients with clinical findings suggestive of a Mendelian disorder for which causative genes have been identified. If unfamiliar with such testing, refer the patient to a physician or counselor who is. In all cases, ensure that the patient receives counseling from a physician with expertise in inherited disease or from a certified genetic counselor.

• Use Clinical Laboratories Improvement Amendment (CLIA)-approved laboratories for all clinical testing. When possible, use laboratories that include in their reports estimates of the pathogenicity of observed genetic variants that are based on a review of the medical literature and databases of disease-causing and non-disease-causing variants.

• Provide a copy of the genetic test reports to the patients so that they 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. Encourage the involvement of a trained physician and/or genetic counselor for all genetic tests so that appropriate interpretation and counseling can be provided.

• Avoid unnecessary parallel testing by ordering the most specific test(s) available given the patient’s clinical findings. Restrict massively parallel strategies such as whole-exome sequencing and whole-genome sequencing to research studies conducted at tertiary care facilities.

• Avoid routine genetic testing for genetically complex disorders such as age-related macular degeneration and late-onset primary open-angle glaucoma until specific treatment or surveillance strategies have been shown in one or more published clinical trials to be of benefit to individuals with specific disease-associated genotypes. In the meantime, confine the genotyping of such patients to research studies.

• Avoid testing asymptomatic minors with untreatable disorders except in extraordinary circumstances. For the few cases in which such testing is believed to be warranted, the following steps should be taken before the test is performed: a) the parents and child should undergo formal genetic counseling, b) the certified counselor or physician performing the counseling should state his or her opinion in writing that the test is in the family’s best interest, and c) all parents with custodial responsibility for the child should agree in writing with the decision to perform the test.

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