Congressional Support for eyeGENE

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Excerpt from the Congressional Justification for FY 2005:

New NEI Initiatives
National Ophthalmic Genotyping Diagnostic and Research Network. The rapid progress in areas of gene discovery and bioinformatics has created the need for enhanced cooperation and coordination among groups that provide genetic diagnostic information to the clinician and patient, store and provide DNA specimens to researchers, and maintain data banks of genotype-phenotype information. Such groups are underrepresented in the area of human ocular disease. The purpose of this initiative is to explore the establishment of a national central registry and molecular database of securely coded information from a large number of people with ocular diseases caused by genetic mutations. Information will be provided through a network of cooperating groups who provide genetic and diagnostic services to patients and clinicians. Such a registry and database will be of great value in advancing research in this area.

Read the entire congressional justification

Excerpted from the NEI Director’s Opening Statement for FY 2008:

Genomic Medicine
AMD research is but one example of genomic medicine, the effort to diagnose and treat patients at the molecular level. Over the past 15 years, NEI-supported researchers have identified nearly 500 genes that could be involved in various eye diseases. Considerable progress has been made in understanding the resultant disease mechanisms and treatments are now beginning to emerge. As genomic medicine progresses, we must grapple with the obvious opportunity and challenge of genotyping individuals with eye disease and delivering therapies that are specifically tailored to the individual patient. This personalized approach to medicine is vital to improving the health of all Americans.

The NEI has begun a program called EYE GENE to address this issue. EYE GENE will provide research diagnostic gene testing for patients. Many eye diseases are considered rare and genetic testing services are not routinely available. The diagnostic information from EYE GENE will directly benefit such patients.

EYE GENE will significantly aid the research community by creating a centralized patient registry that can be used to locate patients who may wish to participate in clinical trials for new therapies. EYE GENE will also include centralized secure blood collection and processing protocols and a shared database, which will allow for the creation of the larger datasets necessary to identify novel genetic risk factors and answer other epidemiologic questions. Programs like EYE GENE will drive genomic research and become the necessary fabric for individuals to benefit from advances in genomic medicine.

Read the entire statement for FY 2008

Excerpt from the Congressional Justification for FY 2008:

Portrait of a Program: National Ophthalmic Disease Genotyping Network (eyeGENE)
FY 2007 Level: $2.2 million
FY 2008 Level: $2.8 million
Change $0.6 million
Centralized genetic repositories are crucial to the understanding and treatment of rare diseases. The availability of detailed genetic information from patients with eye disease allows investigators to isolate genes that cause disease and to better understand the relationship between a gene defect and the resultant pathology or phenotype. A genetic repository can also serve as a registry to identify suitable candidates for clinical studies. In FY 2007, the NEI began eyeGENE, a genotyping program to facilitate the study of eye diseases. This program will be enhanced in FY 2008. The eyeGENE includes a DNA repository, laboratories to sequence the genes in patient DNA, and a research database of genotype data for researchers to access.

Read the entire congressional justification for FY 2008

Excerpt from the 2008 House of Representatives Committee on Appropriations Report

National Eye Institute
Mission.-NEI conducts and supports basic and clinical research, research training, and other programs with respect to blinding eye diseases, visual disorders, mechanisms of visual function, preservation of sight, and the special health problems and needs of individuals who are visually-impaired or blind. In addition, NEI is responsible for the dissemination of information, specifically public and professional education programs aimed at the prevention of blindness.

Age-related macular degeneration (AMD).-The Committee commends NEI for its trans-Institute research into the cause, prevention, and treatment of AMD, the nation’s leading cause of blindness, including identification of gene variants associated with an increased risk for AMD, which presents an opportunity to predict and preempt the disease. The Committee encourages further research into diagnostics for early detection and appropriate therapies. The Committee also applauds NEI for initiating the second phase of its age-related eye disease study, in which additional dietary supplements are being studied to determine if they can demonstrate or enhance their protective effects against progression to the advanced form of AMD, as shown with dietary zinc and antioxidant vitamins in the study’s first phase. This research is a potentially cost-effective means by which to decrease the progression of this disease.

Diabetic eye disease.-The Committee applauds NEI for the collaborative efforts of the diabetic retinopathy clinical research network to test innovative treatments for diabetic eye disease. The Institute is encouraged to consider expanding and extending the network by increasing the number of clinical trials with new drugs and therapeutics that can treat and prevent diabetic retinopathy.

National ophthalmic disease genotyping network.-The Committee congratulates NEI on its progress in identifying many of the genes involved in some of the most devastating eye diseases, including age-related macular degeneration (AMD), retinitis pigmentosa (RP), and glaucoma, and the progress that has been made in understanding the underlying disease mechanisms and in developing appropriate treatments. NEI’s new national ophthalmic disease genotyping network (eyeGENE) will help accelerate application of these new approaches to medicine. By encouraging the participation of patients and their families who need highly-specialized genetic testing services and coordinating the efforts of many vision research laboratories, vital information is being collected confidentially and maintained securely. This information will help preempt eye disease by enabling qualified investigators to develop targeted treatments and to identify those individuals who are appropriate candidates for these treatments

Excerpt from the NEI Director’s Opening Statement for FY 2009:

Over the past 15 years, NEI-supported investigators have identified nearly 500 genes with alterations that lead to eye diseases such as glaucoma, cataracts, strabismus, corneal dystrophies and retinal degenerative diseases. Considerable progress has been made in elucidating the molecular mechanisms that cause these diseases. Researchers are now working to develop tailored therapies that address the direct genetic cause of a disease. However, many eye diseases are clinically difficult to distinguish without a molecular diagnosis based on genetic testing. Moreover, genetic testing services are not widely available. As genomic medicine progresses to clinical trials, it becomes necessary to genotype patients with these eye diseases to find suitable clinical trial participants.

Through an innovative program called the National Ophthalmic Disease Genotyping Network (eyeGENE), the NEI is working to enhance the nation’s capacity for genetic testing of eye disease. The eyeGENE program is a network of research laboratories that offer testing for affected individuals coupled to a registry of clinical information that is available to the eye research community through a secure, confidential patient registry. eyeGENE will also create a large data set for investigators to identify additional genetic risk factors and to explore the relationship between a genetic disease (genotype) and its clinical manifestation (phenotype). Programs like eyeGENE will drive genomic medicine and become a necessary fabric for personalized medicine.

Read the entire opening statement for FY 2009

Excerpt from the Congressional Justification for FY 2009:

FY 2009 will also bring enhancements to the Ophthalmic Genetics and Visual Function Branch within the IRP. NEI established eyeGENE, a partnership involving the IRP and laboratories across the vision research community to enhance diagnostic genetic testing for eye diseases. eyeGENE, provides genotyping information to patients and their doctors while also creating a centralized repository of genetic material and diagnostic information for research purposes. Additional laboratories will join eyeGENE and testing for additional eye disease genes will be added in FY 2009.

Read the entire Congressional Justification for FY 2009