United States Health Information Knowledgebase



Type:Model View
Definition:The information regarding the role of genes in biomedical research and healthcare, using a single unambiguous genetic nomenclature. This information would be used to support the federal health care sector in a wide variety of emerging sectors such as pharmacogenomics, genomic medicine, genomic applications of clinical trials, early detection of malignancies, as well as a wide variety of uses in infectious disease such as epidemiology and disease surveillance. As an initial step it is necessary that a genetic nomenclature be adopted that allows the unambiguous assignment of a gene so that this can be correlated to other relevant information including the genes localization. The CHI genes standard is Human Gene Nomenclature (HUGN). HUGN is free for nonprofit use, but requires a license for commercial use (see http://www.gene.ucl.ac.uk/nomenclature/information/commercial.html). Exit Disclaimer Usability gaps noted were: 1 ) Translational research would be greatly accelerated if implementation of the HUGN standard were coupled with close coordination with other CHI vocabularies. The NCI is working actively in trying to bridge the gaps between basic and clinical science in these fields, but similar efforts by other entities appears uncoordinated. 2) The field of infectious disease represents a very significant gap in current planning. More active coordination between government agencies is necessary not only for translational research, but also for disease surveillance and bio-defense. CDC input on these issues is of great importance, as is coordinating efforts with NIAID as well as other institutes. 3) Genomic medicine will require the adoption of structured vocabularies by content providers. Data standards should be developed with the active participation of the content providers/clinicians, with implementation mandated when possible by the NIH/NLM. 4) Finally, in addition to the development of the standardized vocabularies noted above, messaging standards such as HL7® will need to incorporate genomic and proteomic content into their data models.
Registration Authority:Centers for Medicare & Medicaid Services
Effective Date:2004-05-06
Administrative Attributes
Responsible Organization:Centers for Medicare & Medicaid Services
Submitting Organization:Consolidated Health Informatics
Steward Organization:Consolidated Health Informatics
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