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Vol. LXVI, No. 21
October 10, 2014

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From Startup to Success
NEIís eyeGENE Enrolls 5,000th Patient

NEI’s Dr. Santa Tumminia is an eyeGENE veteran.
NEI’s Dr. Santa Tumminia is an eyeGENE veteran.

In 2003, NEI held a meeting of national and international experts in ophthalmology, genetics and bioethics to discuss inherited eye disease research. A burst of discoveries linking specific genetic mutations to inherited eye diseases, many of them rare, had happened over the previous decade, raising hopes that the field could be getting closer to treatments that would be targeted and gene-specific. To develop those therapies, however, researchers had to do more than just identify the genes. They had to understand what alterations in the genes did to cause the disease—their biological mechanisms—and they also needed to recruit patients to participate in clinical trials.

The outcome of the meeting was the National Ophthalmic Genotyping and Phenotyping Network (eyeGENE). The pilot program launched in 2006 and coupled two goals: developing capacity for diagnostic genetic testing (or genotyping) in the United States and Canada and creating a sample biorepository and patient registry to become a community resource for researchers. This past June, eyeGENE announced recruitment of its 5,000th patient.

“This project was ahead of its time,” said Dr. Santa Tumminia, associate director for strategic science and initiatives and programs at NEI. “There was nothing like it. People were storing DNA samples, but they didn’t have clinical information attached to the genetic information.”

One of the obstacles eyeGENE faced was that there were very few federally approved labs that could gather DNA samples from individuals with inherited eye disease, perform genetic diagnostics and relay results to patients. Testing and genotyping were mostly happening in research labs at universities that weren’t allowed to share results with patients. The first initiative of the program was to issue grant supplements to build genotyping capacity and establish 11 labs across the country that could do molecular diagnostics according to federal standards.

Currently, the network enrolls about 500 new individuals each year. Patients do not register on their own. Instead, recruitment is done through eye health care professionals such as ophthalmologists, optometrists or genetic counselors with access to patient records.

eyeGENE pays for the genetic testing. In return, each participant agrees to be part of the research program and pay any out-of-pocket costs for eye exams, blood draws and shipping of their samples to eyeGENE. The blood samples are sent to NEI’s eyeGENE laboratory, located in the Clinical Center, where the DNA is extracted and shipped for testing. The remainder is stored in the biorepository for research purposes. The clinical information is de-identified and entered into a secure web-based application.

NEI’s Alexandra Garafalo works on eyeGENE project.
NEI’s Alexandra Garafalo works on eyeGENE project.

“When we started, the network tested 20 known disease-causing genes across 10 disease categories,” said Tumminia. “Now we test over 100 known disease-causing genes in over 35 disease categories. Since we’ve begun, along with our research partners in the network, we’ve helped identify 15 new disease-causing genes and more than 200 new mutations in known genes. The discoveries are important since so many of these samples are from individuals with rare inherited eye diseases.

“Because of the program, we’ve identified a number of genetic variants that may be associated with inherited eye diseases, although we’re not sure what they do or if they’re significant,” Tumminia continued. “So we’re starting to upload all the variants into a public database [] for researchers to use.”

Researchers can request access to the eyeGENE data and DNA samples by submitting a research proposal that is reviewed by a data access committee. Upon approval, researchers can also use the network to identify potential individuals for participation in gene-based clinical trials.

As the program continues, testing will move towards next-generation sequencing and whole exome or genome testing, as well as gathering more thorough clinical information including, for example, imaging studies. Other organizations are also beginning to pay attention to eyeGENE. The program has received many requests to share its standard operating procedures with laboratories and research institutions in the U.S. and abroad. eyeGENE will start a pilot program in Italy in the coming year.

“We’re beginning to see the fruits of our labor,” said Tumminia, “in scientific publications and patients being recruited into clinical trials. It’s a very exciting time for vision research.”

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