Overview of the process for enrolling patients
The health care professional begins or arranges for the consent and genetic counseling of the potential participants. He/she then obtains a family history and clinical information regarding the participant’s eye condition and enters this information in the secure, online eyeGENE® database. The clinician either has a blood sample drawn during the eye exam visit or arranges for phlebotomy services at a location convenient for the participant.
Once the blood sample and completed forms are received at the eyeGENE® Coordinating Center, DNA is extracted from the sample. The DNA is coded and a separate coded portion of the sample is sent to a certified CLIA† laboratory, if testing is available. The CLIA laboratory enters the results of the genetic testing in the eyeGENE® database, and provides a hard copy report to the Coordinating Center. Coordinating Center staff use the code to link the result back to the patient information and send the decoded report back to the referring health care provider to share with the patient.
The remaining coded DNA is stored for additional future testing and research use. Vision researchers may also request access to de-identified clinical exam data, genetic test results and/or to participants who have agreed to be re-contacted.
Step by Step Instructions
1. Register in the eyeGENE® online database prior to enrolling patients. Register online at https://nationaleyegene.nei.nih.gov to become a registered eyeGENE® clinical organization user. The eyeGENE® Coordinating Center will review your organization’s registration information for approval. Any healthcare provider who follows patients for an eye-related condition may register (e.g., ophthalmologist, optometrist, geneticist, genetic counselor, neurologist, etc.).
2. Determine if a patient has an inherited eye disease that makes the patient eligible to enroll in eyeGENE®.
3. Fill out the required family history and clinical questions in the online database. This can be done by a clinician or a member of his/her staff. The eyeGENE® database is curated by NEI clinical staff and genetic experts who will review the clinical information and determine which gene tests may be available through eyeGENE®, or if more clinical information (e.g. photographs, ERGs, visual fields, pedigrees) is needed. This assists in confirming diagnosis, clarifying phenotypic descriptors, and adding to the richness of the database.
4. Ensure that the patient completes and signs a Research Consent Form. Patients may choose whether or not they’d like to receive their molecular test results back and whether or not they’d like to be re-contacted for future research or clinical studies. The exact forms that are used will depend on Institutional Review Board (IRB) approval status for your organization. For the NIH, the requirements for the IRB approval process is dependent on the number of patients enrolled and individual Institutional policies.
Enrolling fewer than 10 participants
If your organization anticipates recruiting only a small number of patients (< 10 patients/calendar year) and depending on your institution’s IRB requirements, you may have the choice of whether or not to pass the protocol through your local IRB. If your institution does not require you to submit a protocol to your local IRB or if you do not have a local IRB, you may use the NEI IRB-issued forms which are located on the eyeGENE® database. A genetic counselor from the NEI will verify the consent with participants enrolled in eyeGENE® over the telephone. Please be sure to provide the patient with a copy of the consent forms to review before this call.
Note: Some Institutions may require IRB approval of the eyeGENE® protocol regardless of the number of participants enrolled. Please check with your institution and follow their guidance.
Enrolling more than 10 participants
If the participating clinical organization anticipates recruiting more than 10 patients/year submission of the eyeGENE® protocol to an independent IRB is required. Once the IRB approves the eyeGENE® protocol the organization may submit samples at any time and is responsible for all aspects of the consent of its own patients.
5. Provide, or arrange for, genetic counseling to the patient, pre- and post-testing.
6. Draw and label the appropriate amount of blood in K2 EDTA tubes.
Amount of blood required:
- Age 0-7: 7-10 ml of blood
- Age 8-15: 10-15 ml of blood
- Age 16 and over: 24-30 ml of blood
7. Ship the blood samples within 72 hours of the blood draw to the Coordinating Center along with the Blood Specimen Shipping Request (printed from the database), and Research Consent Form (and Assent Form for minors). Samples received 72 hours after the blood draw will not be accepted.
Once results are available, a molecular diagnostic report is sent to you, and results are available through the eyeGENE® database. Turnaround time for the receipt of molecular diagnostic results varies and often depends on the gene(s) tested and availability of the diagnostic test(s) through an eyeGENE® Network CLIA laboratory. The average turnaround time is between four months to one year.
DNA extracted from the patient blood samples and de-identified patient data are available to vision researchers who have received approval for a proposal through the eyeGENE® Resource Access Subcommittee (part of the eyeGENE® Steering Committee which oversees the eyeGENE® program).
NOTE: There are no costs to you or the patient for molecular diagnostic testing. eyeGENE® will cover these costs. However, eye exams, blood draw and shipping charges are NOT covered by eyeGENE®.
- For patients: the possibility to aid research, receive molecular diagnostic genotyping, and if they choose, be contacted for future research studies.
- For referring eye health care providers: access to a secure centralized system for genetic testing and the ability to contribute to the standardization/refinement of clinical phenotypic descriptors. Providers also have the opportunity to be contacted for possible research collaborations.
- For researchers: a repository of curated linked phenotype-genotype data, and the possibility of identifying individuals with inherited eye diseases for research and/or future clinical trials.
Genetic testing may provide information about how an eye condition is passed on within a family, which may cause stress or anxiety to some individuals and may affect familial relationships. Insurance or work discrimination could occur if genetic information is disclosed, even though a federal anti-discrimination law (Genetic Information Nondiscrimination Act of 2008, or GINA) is in place. Risks are further described in the consent form. You and your patients are encouraged to ask questions.
†Clinical Laboratory Improvements Amendments (CLIA)