May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
The National Ophthalmic Disease Genotyping Network: eyeGENETM - One Year Later
Author Affiliations & Notes
  • S. J. Tumminia
    National Eye Inst/NIH, Bethesda, Maryland
    OD,
  • A. Nezhuvingal
    National Eye Inst/NIH, Bethesda, Maryland
    OGVFB,
  • N. Smaoui
    National Eye Inst/NIH, Bethesda, Maryland
    OGVFB,
  • D. Blain
    National Eye Inst/NIH, Bethesda, Maryland
    OGVFB,
    MedStar Research Institute, Hyattsville, Maryland
  • V. NDifor
    National Eye Inst/NIH, Bethesda, Maryland
    OGVFB,
  • D. Scheim
    Private Systems Specialist, Blacksburg, Virginia
  • H. Chin
    National Eye Inst/NIH, Bethesda, Maryland
    DER,
  • B. P. Brooks
    National Eye Inst/NIH, Bethesda, Maryland
    OGVFB,
  • I. MacDonald
    National Eye Inst/NIH, Bethesda, Maryland
    OGVFB,
  • Footnotes
    Commercial Relationships  S.J. Tumminia, None; A. Nezhuvingal, None; N. Smaoui, None; D. Blain, None; V. NDifor, None; D. Scheim, None; H. Chin, None; B.P. Brooks, None; I. MacDonald, None.
  • Footnotes
    Support  Funded through DHHS/NIH/NEI Extramural and Intramural Programs
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 3095. doi:https://doi.org/
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    • Get Citation

      S. J. Tumminia, A. Nezhuvingal, N. Smaoui, D. Blain, V. NDifor, D. Scheim, H. Chin, B. P. Brooks, I. MacDonald; The National Ophthalmic Disease Genotyping Network: eyeGENETM - One Year Later. Invest. Ophthalmol. Vis. Sci. 2008;49(13):3095. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : To evaluate the progress of eyeGENETM which was designed to manage ophthalmic molecular diagnosis and clinical data.

Methods: : Individuals are recruited into eyeGENETM from academic centers, private clinical practices or the NEI. After registration, patient consenting and pre-test genetic counseling, a clinician sends a blood sample to eyeGENETM and submits phenotypic data via a secure web-based database. DNA is prepared in a CLIA-certified manner and sent to a Network lab for molecular diagnostic testing. Some DNA is stored at the eyeGENETM Repository. Clinical genetics reports are generated and forwarded to the referring clinician. Access to Network samples for research or patient recruitment for clinical study participation must be approved.

Results: : A National Ophthalmic Disease Genotyping Network was implemented to manage molecular diagnosis and detailed phenotypic data for use in research. A Steering Committee provides opinions regarding scientific, ethical, and management issues. Currently, 10 CLIA laboratories provide testing for 50 genes responsible for 20 eye diseases. These include, but are not limited to, retinal diseases, strabismus, glaucoma, and corneal dystrophies. Minimal clinical and phenotypic criteria have been established for each disease tested. The Network is designed to capture demographic information, clinical diagnosis and supporting phenotypic data for individuals with these diseases. On September 20, 2006 the first patient sample was received through eyeGENETM. At the time of abstract submission, 60 organizations registered with the Network and 250 samples are being processed.

Conclusions: : eyeGENETM (http://www.nei.nih.gov/resources/eyegene.asp) is composed of a national network of CLIA labs providing molecular diagnosis to patients with inherited eye disease, a repository of DNA and a database which couples the anonymous genotype-phenotype data. eyeGENETM will facilitate the discovery of new ophthalmic disease genes, identify genetic modifiers of disease; aid in the analysis of genotype:phenotype correlations and enhance recruitment for clinical trials. This effort will grow to include additional labs offering testing for more genes and diseases. eyeGENETM will be a resource for the vision community and benefit medical care for a broad patient population with inherited eye disease. The eyeGENETM Network serves as a model of broad-based community collaboration for other genetic conditions.

Keywords: genetics • clinical laboratory testing • clinical (human) or epidemiologic studies: health care delivery/economics/manpower 
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