Over the past several decades researchers have identified hundreds of genes that contribute to inherited eye diseases. Today, it is possible to provide genetic testing for patients diagnosed with genetic ocular diseases by analyzing some of these genes. Disease-causing mutations are associated with many ocular diseases, including glaucoma, cataracts, strabismus, corneal dystrophies, and a number of retinal degenerations.
According to an article appearing in the monthly publication “NIH Record” http://nihrecord.nih.gov, the National Ophthalmic Genotyping and Phenotyping Network or referred to as (eyeGENE®) www.nei.nih.goveyegene created by the National Eye Institute (NEI) www.nei.nih.gov, studies inherited eye diseases and links clinical information with DNA samples and genetic testing data.
Before eyeGENE was formed, there were very few federally approved labs that could gather DNA samples from individuals with inherited eye diseases, perform genetic diagnostics, and then 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 program’s first action was to issue grant supplements to build genotyping capacity and establish eleven labs across the country to do molecular diagnostics according to federal standards.
Currently, the network enrolls about 500 new individuals each year but patients can’t register on their own. Instead, recruitment is done through eye healthcare professionals such as ophthalmologists, optometrists, or through genetic counselors with access to patient records.
The eyeGENE network pays for the genetic testing and 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 the samples.
The blood samples are sent to NEI’s eyeGENE laboratory where the DNA is extracted and tested. The remainder is stored in the biorepository for research purposes where the clinical information is de-identified and entered into a secure web-based application.
As the program continues, testing will move towards next generation sequencing and whole exome of genome testing as well as gathering more thorough clinical information including imaging studies.
The program has received requests to share their standard operating procedures with labs and research institutions in the U.S. and abroad so eyeGENE will start a pilot program in Italy in the coming year.