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- Publisher
- American Medical Association
- Copyright
- Copyright 2007 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
- ISSN
- 2168-6165
- eISSN
- 2168-6173
- DOI
- 10.1001/archopht.125.2.205
- pmid
- 17296896
- Publisher site
- See Article on Publisher Site
Abstract
SPECIAL ARTICLE Edwin M. Stone, MD, PhD he data, devices, and molecular techniques that have become part of the practice of medicine as a result of the Human Genome Project are for most clinicians both inspir- ing and intimidating. While the potential for tests that can help make very accurate T diagnoses of rare genetic diseases and that can identify genetic predispositions to more common ones is exciting, the translation of this concept to practice has been slower and more com- plicated than most people would have imagined. The reasons for the slow translation of ge- Genetic eye diseases range in preva- nomic discoveries from the laboratory to lence from common disorders like macu- the clinic range from the vagaries of in- lar degeneration, which affects as many as tellectual property law to the different strat- 1 in 3 people older than 75 years, to spe- egies that various countries have chosen cific subtypes of rare conditions that each to pay for the medical care of their citi- occur in only a few people in the United zens. However, our understanding of the States per year. In the future, genetic test- genes involved in inherited eye disease is ing
Journal
JAMA Ophthalmology – American Medical Association
Published: Feb 1, 2007