General Guidelines for Genetic Testing

  • Offer genetic testing to patients whose clinical findings suggest a Mendelian disorder with a known gene mutation. 
  • If you are unfamiliar with the specific testing required, encourage the involvement of a board-certified medical geneticist, genetic counselor, or both for all genetic tests. This will help to ensure accuracy of testing and interpretation of results, and that proper counseling is provided to the patient. 
  • Use Clinical Laboratories Improvement Amendments (CLIA)–approved laboratories for all clinical testing to ensure accuracy and quality of testing.
  • Provide a copy of each genetic test report to the patient. This information allows patients to independently search for mechanism-specific information, such as the availability of gene-specific clinical trials.
  • Consider panel testing for disorders that can be caused by mutations in more than one gene.
  • Avoid direct-to-consumer genetic testing and discourage patients from obtaining such tests themselves.
  • Avoid routine genetic testing for genetically complex disorders like age-related macular degeneration and late-onset glaucoma.
  • Avoid testing asymptomatic minors for untreatable disorders except when surveillance or lifestyle modifications can be beneficial.

Adapted from: Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, Weleber RG. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology. 2012 Nov;119(11):2408-10.