General FAQ | Health Care Providers FAQ | Patients FAQ


Question: What is eyeGENE®?

eyeGENE® is the National Ophthalmic Disease Genotyping and Phenotyping Network, a consortium of the federal government, individuals affected by inherited eye disease, their eye health care providers, the vision research community and CLIA-certified DNA diagnostic labs who provide clinical molecular testing for a variety of inherited diseases affecting vision and the eye.

Question: How does eyeGENE® work?

eyeGENE®; provides a central entry point for patients and their eye health care providers to obtain diagnostic genetic testing for select eye conditions from contracted CLIA-certified laboratories at minimal cost (cost of the blood draw and shipment to the eyeGENE© Coordinating Center). This allows for the concurrent expansion of a central repository of DNA samples coupled to phenotypic information that will be mined for future eye research.

Question: Is the goal of eyeGENE® to genotype patient samples?

No. The primary goal of the eyeGENE®; Network is to facilitate research into inherited eye disease. Genotyping patient samples is an important part of that research. To facilitate the research, eyeGENE® is building a biorepository linking genotypic and phenotypic information. Thus, the genotyping of patient samples is a critical part of the eyeGENE© project.

Question: Who is involved in the eyeGENE® Network?

The eyeGENE® Network is composed of a Central Coordinating Center and a biobank currently housed at the National Eye Institute of the National Institutes of Health in Bethesda, MD. The Network also includes CLIA certified diagnostic laboratories and the registered clinical organizations of affiliated eye health care providers and their patients. The registered clinical organizations range from private practice clinics to large academic institutions and are spread across the United States and Canada.

Question: How does a patient sample flow through the eyeGENE® Network?

Patients work with their eye health care provider to submit a blood sample to the eyeGENE® Network Coordinating Center where DNA is extracted. The eye health care provider or a member of his/her staff enters the clinical phenotypic information into an online database. The DNA is coded and part of it is sent to a certified CLIA laboratory that provides the necessary diagnostic testing, enters the results of the genetic testing in the eyeGENE® Network database, and sends a hard copy report to the Coordinating Center which eyeGENE® Network staff then link back to the patient. The Coordinating Center sends the report is back to the referring eye health care provider to share with the patient. The rest of the DNA is stored for future research.

Question: Are eyeGENE® samples stored in the biorepository the property of a single researcher?

No. The eyeGENE® repository samples are the available to the entire vision community and are accessible through an application and review process.

Question: How is the eyeGENE® Initiative evaluated?

There is constant evaluation and evolution of the eyeGENE® Initiative. The eyeGENE© Network has been presented to and reviewed by the National Eye Advisory Council (NEAC) several times since its inception in 2003. Additionally, the goals and procedures of eyeGENE® are evaluated in greater detail by the eyeGENE® Steering Committee on a semi-annual basis. The Steering Committee is composed of individuals from around the country with expertise in genetics, eye disease, large multi-site trials, and ethics. The Committee provides input to the NEI regarding scientific, ethical, and management issues relating to eyeGENE®.