Clinical Statements : American Academy of Ophthalmology

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Clinical Statements : American Academy of Ophthalmology

Recommendations for Genetic Testing of Inherited Eye Diseases: Report of the American Academy of Ophthalmology Task Force on Genetic Testing - November 2012

• Related Links
• The Role of the Ophthalmologist in Genetic Testing
• The Definition of Genetic Testing
• Presymptomatic Testing
• Parallel or Bundled Testing
• Monogenic versus Complex Disease
• Clinically Relevant Turnaround Time
• Specific Recommendations
• Footnotes and Financial Disclosures

Related Links

• PDF - Recommendations for Genetic Testing of Inherited Eye Diseases_Nov 2012 (134 kb)
• Online Community: Post comments or questions about the recommendations

The Role of the Ophthalmologist in Genetic Testing

Ophthalmologists should be aware that sensitive and specific genetic tests now exist for dozens of inherited eye diseases. Whenever the clinical findings suggest the presence of an inherited eye disease, the treating ophthalmologist should either discuss the potential value of genetic testing with their patient and order the appropriate tests (if any) herself or himself or should offer a referral to another physician or counselor with expertise in the selection and interpretation of genetic tests. The ophthalmologist should strive to make the most detailed and specific clinical diagnosis possible to aid in the proper ordering and interpretation of the test. Ophthalmologists who order genetic tests either should provide genetic counseling to their patients themselves, if qualified to do so, or should ensure that counseling is provided by a trained individual such as a board-certified medical geneticist or genetic counselor. Treating ophthalmologists also should ensure that their patients receive a written copy of their genetic test results. There are a number of web-accessible resources available to help ophthalmologists choose appropriate genetic tests and to locate knowledgeable genetics professionals to assist them with specific patients. For example, the National Institutes of Health Genetic Testing Registry is a new web-based clinical tool that includes a database of Clinical Laboratories Improvement Amendments–approved genetic tests and context-specific links to key resources such as GeneReviews, professional practice guidelines, PubMed reviews, and Online Mendelian Inheritance in Man(r) (OMIMr) records. There is also an assortment of clinical referral resources including links to the American College of Medical Genetics, the American Board of Genetic Counseling, and the National Society of Genetic Counselors. The websites of the latter organizations provide listings of genetics professionals by zip code.