According to the American Medical Association, physicians have at their disposal more than 2,000 different types of genetic tests to aid in the diagnosis and treatment of more than 1,000 diseases. What do all these tests mean for retina specialists? I’ll provide some answers.

Test Rationale

As a response to the growing interest in genetic testing, the American Academy of Ophthalmology (AAO) revised a clinical statement, Recommendations for Genetic Testing of Inherited Eye Diseases.1 The AAO describes three advantages of presymptomatic genetic testing:

• It allows a physician to administer preventive therapy before clinically detectable damage occurs.

• The physician can also increase surveillance for treatable disease.

• And, at-risk individuals can make informed reproductive decisions before a disease is clinically detectable.

The AAO cautions against over-testing with bundled or parallel testing of many loci or genes. As the guideline states:

A major issue with extensively parallel genetic testing (e.g., hundreds or thousands of genes) is the collateral discovery of numerous clinically relevant findings that are unrelated to a patient’s presenting symptoms. The chance of making such a discovery, and thereby incurring the responsibility for appropriate counseling and referral to other health care specialists, is proportional to the amount of the genome one assesses in each genetic test.

The AAO encourages standard medical evaluations and discourages routine genetic testing of complex disease and/or patients with a family history of complex disease until studies and trials support that testing.

Complex disorders (e.g., age-related macular degeneration and glaucoma) tend to be more common in the population than monogenic diseases and the presence of any one of the disease-associated variants is not highly predictive of the development of the disease … Until such benefit can be demonstrated, the routine genetic testing of patients with complex eye diseases, or unaffected patients with a family history of such diseases, is not warranted.


In June 2012, the Office of the Inspector General published Memorandum Report:  Coverage and Payment for Genetic Laboratory Tests, OEI-07-11-0011. This report references and applies the Social Security Act’s coverage mandate as follows:  

Since CMS [Centers for Medicare & Medicaid Services] considers predictive tests to be screening tests, genetic tests for this purpose are not covered by Medicare. However, genetic tests used to diagnose or determine treatment in the presence of signs and symptoms of disease can be covered by Medicare.

Table: Genetic Tests in Ophthalmology

Abbrev. Genetic Name Commonly Associated Disease CPT
ABCA4 Stargardt disease; age related macular degeneration
BEST Vitelliform macular dystrophy
CFH/ARMS Macular degeneration
CRX Cone-rod dystrophy
CYP1B1 Primary congenital glaucoma
OPA1 Optic atrophy
POLG Progressive external ophthalmoplegia
PRPH2 Retinitis pigmentosa
RHO Retinitis pigmentosa
RP1 Retinitis pigmentosa
 Note: This is an abbreviated list which is illustrative but not comprehensive.
So, Medicare covers tests that provide useful information in treating an existing condition, but otherwise, CMS does not cover screening tests.  

In the private sector, Aetna Clinical Policy Bulletin, Glaucoma Testing (No. 0622) discusses genetic testing. It states: “Aetna considers genotyping for the screening, diagnosis and monitoring of glaucoma experimental and investigational because of insufficient evidence of its effectiveness.”

Coding and Reimbursement

The Current Procedural Terminology (CPT) manual contains Tier 1 and Tier 2 Molecular Pathology procedures. Codes described in the Tier 1 sequence of CPT codes (81200–81383) list gene-specific and genomic procedures. According to CPT, “molecular pathology procedures that are not specified in 81200–81383 should be reported using the appropriate Tier 2 code (81400– 81408) or the unlisted molecular pathology code, 81479. Following CPT instructions, Tier 2 codes represent medically useful procedures that are generally performed in lower volumes than Tier 1 procedures.” Within the Tier 2 sequence, multiple tests specifically refer to numerous ophthalmic conditions (Table).

The table on page 39 is not a complete list of the genes; the National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE), a research venture of the National Eye Institute, provides a lengthy list of genes and diseases that could be considered for testing.  

Both Tier 1 and 2 tests are subject to the Clinical Laboratory Improvement Amendments (CLIA) edits and require a CLIA certificate. In reviewing the 2015 Clinical Laboratory Fee Schedule, only Tier 1 codes have reimbursement rates.  

For non-screening tests, current coverage and reimbursement for Tier 1 and 2 tests is spotty at best. As a practical matter, use an Advance Beneficiary Notice of Noncoverage prior to genetic testing until your Medicare administrative contractor establishes coverage guidelines.


The AAO advises caution with genetic testing, and recommends a focus on a specific disease rather than broad- spectrum testing. According to the AAO, your clinical examination is the best method for assessing and following disease. Coverage and payment for genetic testing depends on why and when it is performed. Reimbursement is spotty, so genetic testing in an ophthalmology practice is narrowly applicable due to its limited utility and restrictions on reimbursement.  RS

Mr. Mack is a senior consultant with Corcoran Consulting Group. He can be reached at (800) 399-6565 or at

1. Stone EM, Aldave AJ, Drack A, et al. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology. 2012;119:2408-2410.