FAQ

eyeGENE ® is 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 diagnostic testing for a variety of inherited diseases affecting vision and the eye.

eyeGENE® was launched in 2006 as a multi-center clinical trial and public private partnership between CLIA-certified molecular diagnostic laboratories, clinical centers and research institutions in the U.S. and Canada.

eyeGENE®’s initial organization and structure had multiple components.  It was designed to achieve its mission by broadening patient and family access to genetic diagnostic testing and by granting controlled access to clinical and genetic information in a data repository, to DNA in a biorepository, and to individuals consented to participate in research and clinical trials.

eyeGENE® was originally designed as a two-stage initiative governed by clinical protocols approved by a National Institutes of Health (NIH) Institutional Review Board (IRB).

No. The primary goal of the eyeGENE® Network has always been to facilitate research into inherited eye disease. To facilitate research, eyeGENE® built a DNA biorepository and de-identified participant database linking genotypic and phenotypic information. Thus, the genotyping of participant samples has played an important role in that research.

Because eyeGENE® paused accrual in December 2015, we are no longer accepting new patients. If you are not already enrolled in eyeGENE®, you have other options available to you. Information regarding other clinical studies and options for genetic testing can be found at www.clinicaltrials.gov or www.genetests.org. Feel free to contact us (eyegeneinfo@nei.nih.gov or 301-435-3032) with any further questions.

• In May 2016, the original eyeGENE® database used for enrolling patients was retired due to its age and lack of sustainability.
• eyeGENE® moved data to a more robust system that allows approved researchers access to de-identified clinical, demographic and genetic information and files. The new system allows for research data queries and filtering of the data. This new system is accessible through an approved research protocol application process. For more information regarding research access, please visit our website at https://eyegene.nih.gov.
• Information and updates regarding patients previously enrolled in eyeGENE® is available from the eyeGENE® Coordinating Center directly (eyegeneinfo@nei.nih.gov or 301-435-3032).
• The eyeGENE® Coordinating Center will retain access to all data and files from previously enrolled participants. The Coordinating Center can provide data and information to referring clinicians upon request. Clinicians will continue to receive hard copies of any genetic results, amended reports, etc., directly from the Coordinating Center.

Yes. DNA obtained from participants already enrolled in the program prior to December 31, 2015 will continue to be tested for disease-causing mutations. If a disease-causing mutation is found, results will be returned to the referring clinician.

Currently enrolled participants and referring clinicians may contact the Coordinating Center at 301-435-3032 or eyegeneinfo@nih.gov to update their contact information.

• To complete patient enrollment, the referring clinician must submit a completed Research Consent form, DNA Diagnostic form, patient demographic information, and eye examination information. Once all the required materials are received, all clinical and supplemental documentation (i.e. fundus photos, optical coherence tomography (OCT), fluorescein angiogram (FA), autofluorescence (AF), electroretinogram (ERG), visual field (VF), etc.) is reviewed by NEI clinicians to confirm the diagnosis and determine which genes will be screened.
• A participant may be placed in a queue that is labeled “pending review”. This means that the eyeGENE® Coordinating Center has not received all of the necessary information required for the case to be reviewed by NEI clinicians and therefore cannot be shipped to CLIA-certified diagnostic laboratories for testing. The eyeGENE® Coordinating Center will attempt to re-contact the referring clinician for the missing paperwork. If the paperwork is not received, the participant may have to be withdrawn from the study as determined by the NIH IRB approved protocol.

• Supplemental eye examination materials (ex. Fundus photography, Visual Field reports, genetic testing performed outside of eyeGENE® program, etc.) are essential to a participant’s case review because they help confirm the participant’s listed clinical diagnosis. A lack of information can result in a delay diagnostic testing.
• If genetic testing was performed outside of eyeGENE®, we would appreciate that information as well. Both positive and negative testing is beneficial to researchers.  
• Supplemental information also enriches the database and may provide researchers with very useful information.
• Referring clinicians or participants may submit supplemental information to the eyeGENE® Coordinating Center at 10 Center Drive, Building 10, Room 10N226 Bethesda, MD 20892-1860.

Yes, if you have access to your clinical information and you are already enrolled in eyeGENE®, you may submit supplemental materials directly. Currently, there is no eyeGENE® web site that allows you to submit your information; however, if you contact the Coordinating Center as directed above, we will help you get this information to us.

• The time period to obtain genetic test results from eyeGENE® is variable and ranges from eight months to years. The turnaround time (TAT) is dependent on the disease category, the genes being screened and a number of factors that are related to the nature of the program (see next FAQ).
• As soon as genetic results become available to the eyeGENE® Coordinating Center and are reviewed by NEI staff, they are sent to the referring clinician, who can then review the results with the enrolled participant.
• Samples for which no clinical diagnostic tests are available through the eyeGENE® Network remain stored in the DNA biorepository. They will either be clinically screened as new diagnostic tests become available or they will be screened as part of a research study. Results found as part of an eyeGENE® research study that are believed to be potentially pathogenic are confirmed in CLIA-certified diagnostic testing facilities and the results are returned to the referring clinician, who can then review the results with the enrolled participant. Negative research results cannot be confirmed in the Network CLIA diagnostic testing laboratories and therefore cannot be shared with the referring clinician.

• The reasons for a long TAT in the eyeGENE® program are variable. The most common reason for a delay in receiving genetic test results is incomplete enrollment, such as missing paperwork, missing clinical information, or the need for supplemental information. eyeGENE® is an NIH IRB-approved clinical research protocol and is subject to specific requirements that must be completed prior to diagnostic testing.
• eyeGENE® TAT is dependent on the time to completion of protocol requirements, which include signed consent forms, receipt of correct blood volume, receipt of clinical data and quality assurance testing of the samples. From a clinical perspective, the main limitation of the program is that testing has a long TAT, but it is important to remember that facilitating vision research is the ultimate goal of the initiative. As such, the success of the program requires certain conditions be met that are absent from commercial fee-for-service diagnostic testing entities. eyeGENE® requires more blood, paperwork, and clinical information than a commercial or more traditional testing service. Also, all the clinical information received is curated by NEI clinicians and staff. Extracted DNA and original blood samples are subjected to quality assurance testing, which includes gender and short tandem repeat (STR) marker analysis. Finally, yearly budget limits determine the number of tests that can be ordered from the Network laboratories.
• It is important to note that fee-based (commercial) clinical diagnostic testing for ocular diseases is more widely available than when eyeGENE® began, and is a viable option for those wishing a faster TAT. An individual who is already enrolled in eyeGENE® but who has opted to pursue diagnostic testing through commercial avenues may still participate in eyeGENE® research, and can add their commercial test results to their eyeGENE® data.

In cases where enrolled participants are diagnosed with cone rod dystrophy or retinitis pigmentosa with sporadic, recessive, or unknown inheritance or with other conditions where a test is not available within the eyeGENE® Network, the DNA is stored in the eyeGENE® biorepository until  a CLIA-certified clinical diagnostic panel testing is available. However, researchers may also request DNA from the eyeGENE® biorepository and perform genetic testing as a part of their research project. When done in a research-based study, the tests are not CLIA-certified. If a disease-related variant/mutation is found through these research efforts, eyeGENE® will confirm the research result in a CLIA-certified diagnostic laboratory so that the results can be shared with the referring clinician. Negative research results cannot be confirmed in a CLIA-certified diagnostic laboratory and are therefore not shared with the clinician.

In December 2015, eyeGENE® stopped recruiting new participants; however, research use of the data and samples continues to grow. Over the next few years, we hope to continue to add valuable data from the existing eyeGENE® participants to the database and continue to promote the resource for recruiting to more studies.

Retinal images can tell a lot about a person, even beyond their eye health. The images collected through the eyeGENE® project are de-identified before becoming available to researchers. Only researchers approved through a research access committee and reviewed by an Institutional Review Board (IRB) or Ethics committee can gain access to them. Researchers must describe the secure local storage of the files that they might need for doing research and at the end of a study, the investigator agrees to remove any data and files from their secure computer system.