eyeGENE(R)

Abstract

Purpose of review Molecular genetics is revolutionizing the diagnosis and treatment of inherited eye diseases. The National Eye Institute of the National Institutes of Health (NIH), in an effort to facilitate future basic and clinical research in inherited eye disease, created The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE). This review describes the process and utility of the eyeGENE program as it relates to ophthalmic clinical practice. Recent findings Over the last few years, genetic testing of specific genes associated with inherited eye conditions is becoming the standard practice. Vision research and human clinical trials relying on molecular genetic testing of individuals with inherited eye conditions are becoming more common. Eye healthcare professionals must consider the options to assist patients in obtaining genetic testing results and locating trials or studies that may have benefit. Summary eyeGENE is a DNA repository and patient registry for inherited eye diseases coupled to phenotypic descriptors and molecular genetic information. Through eyeGENE, healthcare professionals throughout the United States and Canada can obtain Clinical Laboratory Improvement Amendments-certified clinical molecular genetic results on their patients. Researchers may request access to a de-identified database of phenotype and genotype information about eyeGENE participants and DNA aliquots for their research studies. eyeGENE also offers participants the option of being included in a patient registry, whereby they may be re-contacted if an approved clinical study for which they might qualify is offered.

Cone Structure Persists Beyond Margins of Short-Wavelength Autofluorescence in Choroideremia

“…Patients were excluded from the study if they had conditions that would affect imaging including nystagmus, cataract, and macular edema. Genetic testing was performed on patients through the Carver Nonprofit Genetic Testing Laboratory on a fee-for-service basis (40135), the eyeGENE research consortium46–49 (10040, 30025, 40028, 40166) or using a next-generation sequencing panel through the My Retina Tracker registry genetic testing study (NCT 02435940; retinal dystrophy panel of 181 genes, Blueprint Genetics, Seattle, WA, USA; 40147).…”

NGS-based Molecular diagnosis of 105 eyeGENE® probands with Retinitis Pigmentosa

“…The program includes a CLIA-level DNA repository, a database linking genotype and phenotype data, and a patient registry. eyeGENE ® not only expands patients’ access to diagnostic testing, but also allows registered researchers to gain access to the research database and samples for continued studies such as genotype-phenotype correlations, disease causing mutation prevalence and novel disease gene discovery 14 15 . Additionally, eyeGENE ® is able to contact specific patient populations from the registry for recruitment of additional clinical studies.…”

Next-Generation Technologies and Strategies for the Management of Retinoblastoma

“…The eyeGENE ® network collects and manages diagnostic and clinical phenotypic data from individuals with rare inherited conditions including IRDs, in partnership with clinics and commercial and academic CLIA-approved molecular genetic testing labs performing vision research. The NEI, intramural, extramural vision research labs, and private clinics recruits affected individuals who consent to participate in research and clinical trials through eyeGENE ® ) [52][53][54]. The DNA collected by eyeGENE ® is sent to one of the CLIA-certified labs in the eyeGENE ® network to perform diagnostic testing for specific disorders based on family history, retinal phenotypic presentation, and other information collected by referring eye doctors for recruited patients.…”