eyeGENE^®—National Ophthalmic Disease Genotyping Network

Information for Health Care Professionals

If you are interested in enrolling your patient in the eyeGENE^® Study, please follow the procedures given below. Kindly contact the eyeGENE^® Coordinator at (301) 435-3032 or eyeGENEinfo@nei.nih.gov for more information on online registration process and additional instructions. Currently, eyeGENE is able to accept samples from the United States and its territories and protectorates and from Canada.

Please note that DNA samples will not be sent for diagnostic testing until clinical criteria have been entered into the online database by the referring eye health care provider and signed and completed consent forms and an eyeGENE form for blood shipment have been received by the eyeGENE Coordinating Center.

• How does eyeGENE^® work?
The Network's CLIA-certified research laboratories provide diagnostic genotyping to patients through a centralized and secure process.
• Patients can only participate in eyeGENE^® through a certified eye care or genetics professional.
• Clinician participation involves registering and entering diagnostic information into an online database; arranging for genetic counseling of patients before and after results are generated, and obtaining patient signatures on consent forms.
• Patient participation in eyeGENE^® entails providing a blood sample. Patients have the option of providing their contact information so they can be notified of future clinical trials that are relevant to their condition.
• How can I send samples to eyeGENE^®?
• Any ophthalmologist, optometrist, geneticist or genetic counselor may submit samples if the phenotypic information provided for the patient meets the minimal clinical criteria required for the disease in question. For approval process of the clinical organization, we require a board-certified and/or licensed eye-care professional from the clinic to be registered/ associated with eyeGENE Network.
• An online registration and confirmation process is required before a clinician can submit a sample to eyeGENE^® (Please note that the registration process can be done by your clinical staff / nurse / coordinator). Kindly contact the eyeGENE^® Coordinator for the website link to the registration page.
• Minimum clinical criteria for each patient have to be filled out online and must accompany each sample.
• Patients are asked to sign a research consent form, and if they want their molecular testing results, a DNA Diagnostic consent form. Consent forms are available once your organization registers with eyeGENE^®. If, however, you wish to review the consent forms prior to registration, please contact the eyeGENE^® Coordinating Center for copies.
• Referring providers must ensure that genetic counseling is provided to the patient and a Clinician's Assurance form (this serves as a face sheet for the research consent forms) must be signed by the clinician for our records.
• A genetic counselor from the NEI will consent the patients you enroll in the Network. This step applies to only those clinical organizations who have not obtained local IRB approval for the eyeGENE^® protocol. For more details, please refer to question 3. Please give us 24-48 hours notice before the patient comes for his/her local office visit so that we can make arrangements for the genetic counselor to call and speak with the patient. We can work with you regarding the consenting process. (Please note that consenting here means that an eyeGENE^® genetic counselor will talk to the patient over the phone to ensure that the patient has understood the research study and to obtain their formal verbal consent to participate in the study. The responsibility to provide the signed consent forms lies with the referring clinician and/or clinical staff).
• Print and send the "eyeGENE Blood specimen shipping request" form from the online website along with the blood sample and all the consent forms (The shipping request form provides the Sample ID which is required to track and process the sample).
• In order to process patient samples through eyeGENE^® we require a minimum amount of blood. The requirements are:
• 24 to 30 ml for adults (16 years and over)
• 10 to 15 ml for children between 8 to 15 years
• 7 to 10 ml for children between 0 to 7 years
• Unlabelled blood samples and blood samples obtained greater than 72 hours before receipt will not be accepted.
• Please contact the eyeGENE^® Coordinator for more information on procedures to be followed when shipping blood samples to eyeGENE^®.
• Is there a limit to the number of samples I can send to the eyeGENE^® Network?
If you anticipate sending more than 10 patients/ year to the Network, you must submit the eyeGENE^® protocol to your local IRB. Once your local IRB approves the eyeGENE^® protocol, you will be part of the Network and may submit samples at any time. One benefit to being part of eyeGENE^® is that you (and any associate investigators you list on your protocol) may submit patient blood samples for genetic testing at any time and for any ophthalmic disease being tested by the Network. If you are not associated with an academic institution you will need to pass the protocol through some other IRB, such as the Western IRB (WIRB).
If you anticipate recruiting only a small number of patients (less than 10 patients/ year), the NIH does not require you to submit the protocol to your own IRB; however, you should check with your local IRB for their requirements and regulations.
• Whom can I enroll in the eyeGENE^® Network?
In the current eyeGENE protocol, you may enroll people of any age if they are affected by one of the diseases that we are studying. Please see our list of Genes and Diseases. Family members of the patient can be enrolled if they have one of the eye diseases listed and have symptoms. Asymptomatic carrier testing and prenatal genetic diagnosis are not being offered at the present time.
• What is the turnaround time?
Turn around time will vary by the gene tested. On average, it will take the Network 4 to 6 months to carry out testing, but it may take longer depending on the gene/genes being tested. Kindly note that the turnaround time is computed from the time all the required documentation is received and online data is complete. We require completed consent forms with all signatures present and all the checkboxes checked on the Research Consent, DNA Diagnostic consent forms & Clinician's Assurance form. Secondly, the information requested on our online database such as information requested on Clinical Examination and Diagnoses page or patient profile page must all be completed. Incomplete consent forms or incomplete online data will add to the turnaround time. Once all the consent forms are received and all the online data are complete, the sample will be sent for molecular testing.
• Special cases
X-linked conditions
Symptomatic carrier females will be enrolled in the eyeGENE^® study once a mutation has been identified in an affected male relative.
X-linked retinitis pigmentosa (XLRP)
The first tier of molecular diagnosis for XLRP consists in sequencing the ORF15 of the RPGR-ORF15 gene. The second tier consists in sequencing exons 1 through 14 of the RPGR gene. The third tier consists in sequencing the RP2 gene. It has been estimated that RPGR ORF15 exon mutations account for 30 to 60% of XLRP cases and mutations in other RPGR exons account for 11 to 26% of XLRP cases. Mutations in the RP2 gene are observed in 7 to 20% of XLRP cases.
Sporadic isolated retinitis pigmentosa
At the present time, patient samples will be collected and stored in the eyeGENE^® repository and NOT CLIA-tested. Although some tests are available, careful systematic diagnostic assays are cost prohibitive to the eyeGENE^® Network at this time. These stored samples will be CLIA-tested once new CLIA-approved diagnostic technology (such as diagnostic CHIP technology) is available through the eyeGENE^® Network. We anticipate the development and validation of this technology may take one year or longer.
Autosomal dominant Cone-Rod Dystrophy
Patient samples will first be stored then processed once the CRX gene is available for testing.
Isolated Cone-Rod Dystrophy
Patient samples will be collected, DNA isolated, stored then CLIA-testing once causative gene assays are available for testing through the eyeGENE^® Network.