Panel-based Genetic Diagnostic Testing for Inherited Eye Diseases is Highly Accurate and More Sensitive than Exome Sequencing
Departmental investigators and colleagues in the HMS Ophthalmology Ocular Genomics Institute (OGI) recently reported the development and characterization of a comprehensive genetic test for inherited eye disorders that is both accurate and reproducible in the online version of Genetics in Medicine, a Nature journal.
Using targeted capture and next generation sequencing techniques to sequence 226 genes known to cause inherited eye disorders, the Genetic Eye Disease (GEDi) test 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 being employed commonly in clinical settings – was 88 percent accurate at detecting genetic variants in the same genes.
“The results we obtained for the GEDi test show that panel-based testing focused on the specific genes associated with genetic conditions offers important advantages over whole exome sequencing.”
–Janey Wiggs, MD, PhD, Director of the OGI’s Genetic Diagnostic Testing Service
Currently, the GEDi test is offered on a CLIA-certified basis through the OGI at Mass. Eye and Ear and includes all of the 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. Future versions of the test will also include genes responsible for eye movement disorders (strabismus) and other inherited eye conditions.
Medical professionals interested in ordering genetic testing can email OGI_Diagnostics@meei.harvard.edu or call 617-573-6906. A completed Test Requisition form (available at http://oculargenomics.meei.harvard.edu/gdt) is required for all specimens.