Definition
Integration of genetic test results, generated in the clinical laboratory, into the electronic medical record, in a fully structured format enabling enhanced security, contextual views, clinical decision support, pharmacovigilance, disease management, outcomes and quality assessment.
Historical Background
Clinical genetics got its start in 1948 with the founding of the American Society of Human Genetics, which formalized a scientific approach to the study of human genetics [11]. Traditionally clinical genetics requires practitioners to function as data integrators. Like traditional healthcare, tests are ordered and results returned as interpretive reports delivered in paper form. Understanding the composite picture of the phenotype and genotypeof the patient requires transcribing key signs, symptoms, test values and their clinical interpretation into yet another...
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Hoffman M.A. The genome-enabled electronic medical record. J. Biomed. Inform., 40(1):44–46, 2007.
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Levy S., Sutton G., Ng P.C., Feuk L., Halpern A.L., Walenz B.P., Axelrod N., Huang J., Kirkness E.F., Denisov G., Lin Y., MacDonald J.R., Pang A.W., Shago M., Stockwell T.B., Tsiamouri A., Bafna V., Bansal V., Kravitz S.A., Busam D.A., Beeson K.Y., McIntosh T.C., Remington K.A., Abril J.F., Gill J., Borman J., Rogers Y.H., Frazier M.E., Scherer S.W., Strausberg R.L., and Venter J.C. The diploid genome sequence of an individual human. PLoS Biol., 5(10):2113–2144, 2007.
Logical Observation Identifiers Names and Codes (LOINC) – focusing on the pooling of laboratory results and observations, LOINC is ANSI accredited. Available online at: http://www.regenstrief.org/medinformatics/loinc/
McDonald C.J. The barriers to electronic medical record systems and how to overcome them. J. Am. Med. Inform. Assoc., 4(3):213–221, 1997.
Online Mendelian Inheritance in Man (OMIM) – a catalog of human genes and genetic disorders. Available online at: http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim.
Parrish F., Do N., Bouhaddou O., and Warnekar P. Implementation of RxNorm as a terminology mediation standard for exchanging pharmacy medication between federal agencies. AMIA Annu Symp Proc., 2006:1057, 2006.
Rimoin D.L. and Hirschhorn K. History of medical genetics in pediatrics. Pediatr. Res., 56(1):150–9, 2004.
Systematized Nomenclature of Medicine-Clinical Terms (SNOMED CT) focusing on clinical terminology, SNOMED is ANSI accredited. Available online at: http://www.ihtsdo.org/
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The Harvard Medical School-Partners HealthCare Center for Genetics and Genomics (HPCGG). Response to the Department of Health and Human Services Request for Information (RFI): Improving Health and Accelerating Personalized Health Care through Health Information Technology and Genomic Information in Population- and Community-based Health Care Delivery Systems. Available online at: http://www.hpcgg.org/News/HPCGG_RFI_Response_1_.pdf (retrieved on August 14, 2007).
Wheeler D.L., Barrett T., Benson D.A., Bryant S.H., Canese K., Chetvernin V., Church D.M., Dicuccio M., Edgar R., Federhen S., Feolo M., Geer L.Y., Helmberg W., Kapustin Y., Khovayko O., Landsman D., Lipman D.J., Madden T.L., Maglott D.R., Miller V., Ostell J., Pruitt K.D., Schuler G.D., Shumway M., Sequeira E., Sherry S.T., Sirotkin K., Souvorov A., Starchenko G., Tatusov R.L., Tatusova T.A., Wagner L., and Yaschenko E. Database resources of the National Center for Biotechnology Information. Nucleic Acids Res., 36:D13–D21, 2008.
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Ullman-Cullere, M., Clark, E., Aronson, . (2009). Implications of Genomics for Clinical Informatics. In: LIU, L., ÖZSU, M.T. (eds) Encyclopedia of Database Systems. Springer, Boston, MA. https://doi.org/10.1007/978-0-387-39940-9_194
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DOI: https://doi.org/10.1007/978-0-387-39940-9_194
Publisher Name: Springer, Boston, MA
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