Understanding the costs of genetic testing for ocular disease

An article recently published in Current Opinion in Ophthalmology looked to help eyecare practitioners understand the costs of genetic testing in ocular disease, the complexities of insurance coverage, and its impact on the availability of genetic testing.

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“Genetic testing for inherited eye diseases can be costly but has many benefits to patient care, including confirmation of a diagnosis, insight into prognostic information, and identification of associated health risks, inheritance patterns, and possible current and future treatments,” writes author Jenina E. Capasso. “As gene therapy advances progress, the availability for treatment in ocular diseases, coverage for genetic testing by third-party payers could increase on the basis of current clinical policies.”

While genetic testing can offer many benefits to both patient and practitioner, the tests can range in price from a few hundred to thousands of dollars. Patients will want to know how much of the cost they will be responsible for before agreeing to the test.

The report provided links to the clinical policies outlining guidelines for genetic testing coverage from several major insurance carriers. Those policies have been linked here:

• Aetna

• Cigna

• Anthem Blue Cross Blue Shield

• United Healthcare

• Tricare

Capasso writes that common themes among the policies include clinical validity of the test; an individual has symptoms or is at risk to develop them; and the result of the testing will directly affect the medical management and treatment of the individual.

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If insurance coverage is not possible, your patient may have other options. The eyeGENE(R) network is a National Eye Institute and National Institute of Health initiative to create a DNA repository for various categories of genetic eye diseases.

“The goal is to gain a better understanding of, and aid future research for, genetic eye diseases, but the project provides an added benefit of clinical testing with no charge to the patient,” Capasso writes. “Patients enrolled with this program submit a blood (DNA) sample along with consent to sharing clinical information from ocular examination and previous diagnostic testing.”

Testing may be performed in a research laboratory and then clinically confirmed in a certified laboratory, and a report is issued to the referring clinician. In return, the patient is contributing to the DNA repository and research on eye disease as well as other diseases.

Capassos also recommends GeneTests, which is a resource to find genetic testing laboratories for both clinical and research testing. She also recommends looking into clinical trials that involve genetic testing through http://www.clinicaltrials.gov.