The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE®) is a research venture created by the National Eye Institute (NEI), part of the National Institutes of Health (NIH). eyeGENE® aims to advance studies of eye diseases and their genetic causes by giving researchers access to DNA samples, clinical information, and patients that may meet their criteria to participate in research studies and clinical trials.
The eyeGENE® research program will require a genetic counseling service for the newest protocol, per NIH institutional guidance. The eyeGENE® program is offering whole exome sequencing (WES) and whole genome sequencing (WGS) to participants in its recruitment protocol (NIH IRB #: 001647), National Ophthalmic Genotyping and Phenotyping Network, Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases. Genetic testing will be completed by a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory and the results received by the eyeGENE® study team. This clinical testing may return primary results and/or results with secondary findings unrelated to a participant’s eye condition.
