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NEI-led national genotyping, phenotyping network hits 4,000 samples accrued
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The National Eye Institute is seeking to increase the pace of ophthalmic genetics research through an initiative known as the eyeGENE network. EyeGENE recently collected its 4,000th genetic sample, a number that, considering the network predominantly caters to rare eye diseases, has exceeded initial expectations, according to an officer involved in the program.
“We hope the impact of eyeGENE will be shown by an increased understanding of the genetics of eye disease and an elucidation of disease mechanisms and geneotype-to-phenotype correlations,”
“And this number of eyeGENE-associated reports continues to grow,” Tumminia added.
“Most importantly, more than 55% of patients in the eyeGENE database have received diagnostic results that may help them become eligible for research studies or clinical trials,” she said.
The goal of the National Eye Institute’s (NEI’s) eyeGENE program is to foster research of genetic eye disease by augmenting existing university-based and commercial genetic ventures, while providing a new entry portal with rapid, reliable and easy access to medical professionals, according to the eyeGENE information page on the NEI’s website.
The program continues to develop public and professional awareness of genotype/phenotype resources that are available to people with various ocular genetic diseases, their clinicians and scientists studying these diseases, the website says.
“EyeGENE includes network CLIA diagnostic laboratory partners as well as more than 250 registered clinical organizations, such as private practices and academic institutions from around the country,” Tumminia said. “Moreover, more than 35 clinical registered organizations have received independent Institutional Review Board (IRB) approval of the eyeGENE protocol, either through their local or commercial IRB.”
The eyeGENE program, because it is a national resource, gives patients greater access to diagnostic gene testing and genetic information and clinicians and researchers greater access to centralized specimen collections, processing and repository services and standardized phenotypic descriptors and provides a shared database of genotype/phenotype information, the website says.
It can also function as a resource for pharmacogenetic and epidemiologic questions about ocular disease, according to the site.
This has enhanced recruitment of patients interested in participating in clinical trials related to genetic eye diseases, which will allow for the analysis of the larger datasets necessary for the development of novel genetic risk factors and modifiers of ocular diseases, the website says.
“All of the original expected eyeGENE deliverables outlined in 2004 to the National Advisory Eye Council have been met,” Tumminia said. “These include the creation of the National Ophthalmic Disease Genotyping and Phenotyping Network, a centralized ophthalmic genetic disease information and diagnostic testing referral resource, a centralized de-identified ophthalmic biospecimen repository and a de-identified vision community genotype/phenotype database.
“The eyeGENE network continues to grow,” she continued. “The NEI is continuing its commitment to facilitate access to existing CLIA-certified research laboratories to promote research within the vision community.
“New data and information utilizing the eyeGENE network are being published, and there is also a pilot program to establish eyeGENE International, which will result in an expansion of the network across national borders,” Tumminia said.
For more information on eyeGENE go to www.nei.nih.gov/resources/eyegene.asp. – by Daniel R. Morgan