Panel-based genetic testing for eye diseases found more sensitive than exome sequencing

Nov. 21, 2014

Investigators at Massachusetts Eye and Ear and Harvard Medical School Department of Ophthalmology and colleagues have reported the development and characterization of a comprehensive genetic test for inherited eye disorders. The Genetic Eye Disease (GEDi) test includes all genes known to harbor mutations that cause inherited retinal degenerations, optic atrophy, and early onset glaucoma. These disorders are important causes of vision loss, and genetic treatments such as gene therapy hold promise for preserving vision in affected individuals. The GEDi test is offered on a CLIA-certified basis through the Ocular Genomics Institute (OGI) at Mass. Eye and Ear.

Mutations that disrupt vision by damaging the retina and optic nerve have been identified in more than 200 genes. This genetic diversity made genetic diagnostic testing difficult until the recent development of high-throughput genomic techniques. The GEDi test uses targeted capture and next generation sequencing techniques to sequence 226 genes known to cause inherited eye disorders. Future versions of the test will also include genes responsible for eye movement disorders (strabismus) and other inherited eye conditions.

Gene panel-based tests for inherited eye disorders have previously been reported, but none has been as thoroughly characterized with regard to performance in a diagnostic setting as the GEDi test. Stringent tests have shown that the GEDi test is highly accurate and reproducible. It is 98 percent accurate at detecting spelling variations or mutations in the genetic code of inherited eye disease genes, and is highly reproducible between test runs. In contrast, whole exome sequencing—in which the coding regions of all genes are sequenced, and which is commonly employed in clinical settings?is 88 percent accurate at detecting variants in the same genes. Read the study abstract from Genetics in Medicine online.

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