The Cost of Genetic Testing for Ocular Disease

Who Pays?

Jenina E. Capasso


Curr Opin Ophthalmol. 2014;25(5):394-399. 

In This Article

Abstract and Introduction


Purpose of review To facilitate ophthalmologists' understanding on the cost of genetic testing in ocular disease, the complexities of insurance coverage and its impact on the availability of testing.

Recent findings Many insurance carriers address coverage for genetic testing in written clinical policies. They provide criteria for medically necessary testing. These policies mostly cover testing for individuals who are symptomatic and in whom testing will have a direct impact on medical treatment. In cases in which no treatments are currently available, other than research trials, patients may have difficulty in getting insurance coverage for genetic testing.

Summary 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. 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.


Genetic testing in general has long been used for the purpose of obtaining a diagnosis. Such testing includes, but is not limited to, karyotype, chromosomal microarray, whole exome sequencing, and single gene analysis which evaluate for different types of genomic abnormalities and are ordered for various indications. As the discovery of the RB1 gene is associated with an inherited predisposition for retinoblastoma, current technologies have identified hundreds of genes associated with ocular disease, many of which are available for testing in a clinical laboratory. As technologies in testing improve, more genes continue to be discovered by way of research. Next-generation sequencing technology has allowed for the development of gene panels analyzing multiple genes associated with one disorder, or group of related disorders, at one time. For individuals with ocular diseases, such as retinal dystrophies, in which many genes have been described without clear distinction on the basis of examination alone, many candidate genes can be tested with a single test. This can greatly reduce the number of tests performed, and theoretically the cost of obtaining a diagnosis. Genetic testing in ophthalmology can have other benefits in addition to confirming a diagnosis such as identifying the inheritance pattern, allowing for recurrence risk counseling, and screening other at-risk family members, providing information about prognosis, and determining appropriate treatments when available. These are many reasons that patients choose to pursue genetic testing; however, the cost of testing and financial responsibility continues to be a factor in the decision-making process. Genetic testing can range from less than a few hundred dollars to thousands of dollars, and a common question asked by individuals seeking genetic testing is whether insurance will pay for testing and how much will be covered.