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National genotyping network growing, but seeks more patients for research

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FORT LAUDERDALE, Fla. — A network that began as a way to manage molecular diagnosis and clinical data for use in research is expanding and seeking more help from clinicians, according to a poster presenter here at the Association for Research in Vision and Ophthalmology meeting.

"Last ARVO we only had about 80 samples in the network," Santa J. Tumminia, PhD, said about The National Ophthalmic Disease Genotyping Network (eyeGENE). "Now, at this ARVO, we have a little over 350 samples in the network. It's growing. People are becoming more and more interested."

Patients have been recruited from centers, private practices or the National Eye Institute. After they are enrolled, patients consent to be tested and must be offered genetic counseling. The patient's blood is drawn and sent to a lab for molecular diagnostic testing. Next, eyeGENE collects demographic information, diagnosis and phenotypic data, according to the abstract.

Dr. Tumminia said the group's next challenge is recruiting clinicians who have patients to enter into the database.

"Our main purpose is to facilitate research in genetic diseases, but in order to do that we need patients," she said. "The hardest part is actually getting the health care provider to go online and enter the information for their patients."

The network, which is funded by the NEI at the U.S. National Institutes of Health, is composed of 10 CLIA-certified laboratories that provide testing for 50 genes responsible for 20 eye diseases, including retinal diseases, strabismus, glaucoma and corneal dystrophies.

Ultimately, Dr. Tumminia said her aim is for the eyeGENE database to be used for research.

"The next goal is going to be opening up the repository and the database to researchers," she said. "In order to do that, there needs to be substance behind it. It's only going to be as good and robust as the system actually is. The more patients, the better."

For more information, visit the eyeGENE Web site at www.nei.nih.gov/resources/eyegene.asp.