eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing

Abstract

Molecular genetics and genomics are revolutionizing the study and treatment of inherited eye diseases. In recognition of the impact of molecular genetics on vision and ophthalmology, the National Eye Institute established the National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE®) as a multidirectional research initiative whereby a clinical component for patients diagnosed with inherited eye disease fosters research into the causes and mechanisms of these ophthalmic diseases. This is accomplished by broadening access to genetic diagnostic testing and maintaining a repository of DNA samples from clinically characterized individuals and their families to allow investigations of the causes, interventions, and management of genetic eye disorders. The eyeGENE® Network currently includes Clinical Laboratory Improvement Amendments (CLIA)-certified diagnostic laboratory partners, over 270 registered clinical organizations with 500 registered users from around the United States and Canada, and is now testing approximately 100 genes representing 35 inherited eye diseases. To date, the Network has received 4400 samples from individuals with rare inherited eye diseases, which are available for access by the vision research community. eyeGENE® is a model partnership between the U.S. federal government, eye health care providers, CLIA-approved molecular diagnostic laboratories, private industry, and scientists who represent a broad research constituency.

Keywords: biorepository; clinical trials; diagnostic genotyping; eyeGENE®; genetic testing; ocular genetics; patient registry.

Fig. 1

Graph showing the rate of sample accrual from September 2006 through December 2012.

Fig. 2

Chart depicting the number of samples accrued in each disease category.

Fig. 3

Autofluorescence (a) and color fundus (b) photographs of older adult with PRPH2-associated maculopathy. Ocular history reveals a slowly progressive condition, with relative sparing of the fovea, and reduced full-field electroretinography responses.

Fig. 4

Autofluorescence (a) and color fundus (b) photographs of young adult with KLHL7-associated retinitis pigmentosa. Exam is positive for pigmentary changes, bilateral epiretinal membranes with macular edema, and significantly reduced full-field electroretinography responses.