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General FAQ | Health Care Providers FAQ | Patients FAQ


QUESTION: How will my personal information be protected?

When your blood sample is sent to the eyeGENE© Coordinating Center at the NEI, it includes paperwork and secure database entries containing your name, contact information, date of birth, gender, race and family history. All personal information is available to the eye health care organization that referred you to eyeGENE© and the eyeGENE© Coordinating Center staff only. All personal information is removed before your DNA sample is sent out for diagnostic genetic testing. The portion of your sample that is sent to the diagnostic laboratory for testing does not have your name or contact information. It is identified with a unique identification number, your gender and date of birth as allowed by Federal standards (Clinical Laboratory Improvement Amendments (CLIA)). The information that is provided for research purposes is also de-identified. Researchers receive a DNA sample and pertinent clinical information provided by your eye health care provider, but without any personal identifiers.

QUESTION: How will my DNA (genetic material) be preserved or stored?

Your DNA is divided into smaller portions and stored in multiple freezers at the NEI and/or approved research/storage laboratory(ies). Some of your DNA may be sent to a CLIA laboratory for diagnostic genetic testing.

QUESTION: What happens to the rest of my blood sample?

Most of your blood sample is used to isolate DNA. The rest of the blood sample is frozen and stored at the NEI.

QUESTION: Will I be asked to give another blood sample?

You may be asked to give another sample if:

  • Your blood sample is rejected. Blood may be rejected if it is clotted or if it is received more than 72 hours after the blood draw.
  • The original sample does not produce good quality or a sufficient quantity of DNA.
  • The sample runs out after several researchers have requested a portion of your sample or if there is a laboratory processing error.
  • Additional clinical testing through a CLIA certified lab is needed to confirm genetic test results obtained during a research study.

QUESTION: Will I hear back from eyeGENE© about my test results?

Not directly. eyeGENE© does not release test results directly to participants. If genetic testing is available through one of our clinical laboratories we will send a coded sample to be tested. Once genetic testing has been completed, a report containing that code number is sent back to the eyeGENE© Coordinating Center. The Coordinating Center then matches the code back to your name. If you chose to receive results of the genetic testing, the Coordinating Center sends the diagnostic results back to your referring eye health care provider who then shares these results with you and provides or arranges for genetic counseling as these reports may be difficult to understand.

QUESTION: Can I get a copy of my test results for my personal medical records?

Yes. Your referring eye health care provider can provide a copy of your test results for your medical record.

QUESTION: How long will my DNA be preserved?

Your DNA will be preserved indefinitely or until the supply is depleted. However, if you wish to withdraw from the study, all of your stored DNA will be destroyed. If your de-identified DNA was already given out to a researcher, that DNA may not be retrievable to be destroyed.

QUESTION: Could a researcher share my DNA with another researcher who was not approved by the eyeGENE© project?

No. Approved researchers are not permitted to share your DNA with other researchers who have not been approved by the eyeGENE© Resource Access Subcommittee.

QUESTION: How will my personal information be used?

Your personal information (i.e. the information about your symptoms and the results from your genetic testing, not your identity) will be used to better understand the link between phenotypes (outward physical appearance) and genotypes (information contained in DNA) observed in individuals with inherited eye diseases. The hope is that better knowledge will lead to treatments.

QUESTION: How will my DNA be used?

Assuming there is a diagnostic genetic test available for your condition; your DNA will be used to provide you with genetic test results. Your DNA will also be used to help eye researchers better understand inherited eye diseases and possibly find treatments and cures.

QUESTION: Who will be allowed to use my DNA?

Only researchers who have been approved by the eyeGENE© Resource Access Subcommittee and eyeGENE© contracted CLIA-approved laboratories that provide diagnostic genetic testing will have access to your DNA.

QUESTION: Could my DNA be used in animal research?

Research is often carried out on animal models before going to human clinical trials. While your DNA will not directly be used in animal research, it may lead to clues that might be further investigated in animals.

QUESTION: Will I be contacted for clinical trials?

If you have indicated on the eyeGENE© Research Consent form that you would like to be re-contacted for clinical trials, the eyeGENE© Coordinating Center may contact you if an appropriate clinical trial becomes available. You will only be contacted about proposals that have been approved by the eyeGENE© Resource Access Subcommittee. You will be asked by the Coordinating Center to contact the Principal Investigator of that study to determine your eligibility. You will never be automatically enrolled in additional clinical trials.

You will only be re-contacted about clinical trials that have requested access to eyeGENE© participants. Therefore you will not be re-contacted by eyeGENE© for all possible study trials related to your condition.

QUESTION: If a researcher discovers some other disease causing mutation in my DNA related to my condition, will I be notified?

Yes. If you have chosen to receive genetic testing results, you will be notified if a researcher discovers a new mutation in your DNA and confirms it through a clinical test. You may need to provide an additional blood sample to confirm the result. eyeGENE© will not inform you of individual level research results that are not clinically confirmed by a CLIA-certified laboratory.

QUESTION: What if I leave my doctor’s care and want to be under another doctor’s care. Will s/he have access to my information?

Yes. You may request to allow another doctor access your eyeGENE© records. If your new doctor is not registered with the eyeGENE© Network, s/he will have to register with the Network before being granted access to your information. You will also be required to submit a medical release form.

QUESTION: Do I have financial rights to research results generated from the use of my DNA sample?

No. Research on the eyeGENE© samples may lead to discoveries that have commercial value such as new tests, drugs, or medical devices. Discoveries like these depend on the study of samples from hundreds of people, not from any one person. You will not receive any payment for a commercial product developed from research using your samples.

QUESTION: Can I get my DNA back if I want to withdraw from eyeGENE©?

No. But you may withdraw from eyeGENE© at any time. If you request to withdraw from the eyeGENE© Network, your DNA sample stored at the repository will be destroyed. It may not be possible to retrieve coded DNA samples that have been sent to contracted diagnostic laboratories or approved research facilities, but these samples will not have personal identifying information.

QUESTION: Could I be identified from my DNA even though my PHI is protected?

In rare instances (one of a kind mutation/variant genotype), you may be identifiable by your DNA.

QUESTION: Could my DNA sample or PHI be obtained by law enforcement from eyeGENE© without my permission?

To help us protect your privacy, we have obtained a Certificate of Confidentiality for this research study. With this Certificate, the researchers cannot be forced, for example, by court subpoena to disclose information that may identify you, in any federal, state, or local civil, criminal, administrative, legislative, or other proceedings. However, the Certificate cannot be used to resist a demand from the Department of Health and Human Services or other offices in the United States Government for audit and evaluation purposes, nor does it preclude voluntary disclosure. You should understand that a Certificate of Confidentiality does not prevent you or a member of your family or researchers from voluntarily releasing information about yourself or your involvement in this research. If an insurer, employer, or other person obtains your written consent to receive research information, then we may not use the Certificate to withhold that information.

QUESTION: Will my DNA be shared with any other DNA databanks? Will my DNA be cross-checked with any other DNA databanks?

Yes. Your de-identified DNA may be shared with other DNA databanks. Your DNA may be cross-checked with other DNA databanks.

QUESTION: What is genetic counseling?

Genetic counseling is the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. This process integrates the following:

  • Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
  • Education about inheritance, testing, management, prevention, resources, and research
  • Counseling to promote informed choices and adaptation to the risk or condition

Please see the following website for more information on this topic: http://nsgc.org/p/cm/ld/fid=144.

QUESTION: Do I need genetic counseling because there is something mentally wrong with me?

No. Genetic counseling is one of the facets of the clinical care you will receive for your eye condition because of its genetic component. It does not mean that you have a mental illness.

QUESTION: What is a clinical trial?

A clinical trial is a research study to answer specific questions about vaccines, new therapies, or new ways of using known treatments. Clinical trials (also called medical research and research studies) are used to determine whether new drugs or treatments are both safe and effective. Carefully conducted clinical trials are the fastest and safest way to find treatments that work in people. Please visit www.clinicaltrials.gov for more information.