What are the 

benefits and risks 

of eyeGEnE®?

Benefits 

• For patients: the possibility to aid research, receive 

molecular diagnostic genotyping, and be contacted for 

future research studies. 

• For referring eye healthcare 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 linked phenotypegenotype data, and the possibility of identifying 

individuals with inherited eye diseases for research and/or 

future clinical trials. 

Risks 

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 family 

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 and you and your 

patients are encouraged to ask questions. 

How do I get started? 

Please contact us at: 

eyeGENE® Coordinating Center 

National Eye Institute 

National Institutes of Health 

Telephone 

301–435–3032 

E-mail 

eyeGENEinfo@nei.nih.gov 

Website 

http://www.nei.nih.gov/eyegene 

*Clinical Laboratory Improvement Amendments (CLIA) 

http://www.cms.gov/CLIA 

 

 

 

 

What You Should Know 

InFoRmatIon FoR PHYSICIanS 

Preserving vision through genetics
What is eyeGEnE®? 

The National Ophthalmic Disease Genotyping and 

Phenotyping Network (eyeGENE®) was created by the 

National Eye Institute (NEI), part of the National Institutes 

of Health (NIH), in partnership with laboratories across the 

vision research community. One mission of the eyeGENE® 

Network is to facilitate research into the genetic causes of 

ophthalmic disease by broadening patient accessibility to 

diagnostic genetic testing. The eyeGENE® Network currently 

includes a Coordinating Center at NEI, more than 10 CLIA*

-

approved molecular genetic testing laboratories around 

the Nation, a centralized repository for blood/DNA, and 

a de-identified genotype/phenotype database. The aim 

of this initiative is to stimulate patient and eye healthcare 

provider interest in genetics-based clinical care and generate 

involvement in ophthalmic research. 

 

 

How can I get my 

patients enrolled 

in eyeGEnE®? 

1. Determine if a patient has an inherited eye disease that

makes the patient eligible to enroll in eyeGENE®

. A list of

inherited eye conditions and corresponding genes for

which testing is currently available can be found at

http://www.nei.nih.gov/resources/eyegene.asp

2. Register online at https://nationaleyegene.nei.nih.gov to become 

an eyeGENE® database user. The eyeGENE® Coordinating Center 

will review your 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.). 

3. Fill out the required family history and clinical questions online 

in the database. The eyeGENE® working group will review the 

information and determine which gene tests may be available 

through eyeGENE® or if more information is needed. 

4. Ensure that the patient completes and signs a Research Consent 

Form and a DNA Diagnostic Form. Patients may choose to 

receive their molecular test results back and/or be re-contacted 

for future research or clinical treatment studies. 

5. Complete the Clinician’s Assurance Form and provide or arrange 

for genetic counseling to the patient, pre- and post-testing. 

6. Draw approximately 30 ml of blood from adult participants or 7 

ml of blood from children in K2 EDTA tubes. 

7. Ship the samples to the Coordinating Center along with the 

proper forms. Forms include the Clinician’s Assurance, Blood 

Specimen Shipping Request printed from the database, 

Research Consent Form (and Assent Form for minors), and DNA 

Diagnostic Consent Form. 

notE: There are no costs to you or the patient for molecular 

diagnostic testing. eyeGENE® will cover these costs. However, 

blood draw and shipping charges are NOT covered by eyeGENE®. 

Once results are available, a molecular diagnostic report is sent 

to you, and results are available with your login on the secure 

eyeGENE® database. 

notE: Turnaround time for the receipt of molecular diagnostic 

results varies and often depends on the gene(s) tested and 

availability through an eyeGENE® Network CLIA laboratory. The 

average turnaround time is between four months to one year. 

DNA extracted from the blood samples and de-identified data for 

patients enrolled in eyeGENE® is 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). 

P r e s e r v i n g v i s i o n t h r o u g h g e n e t i c s