Integrating constitutional cytogenetic test result reports into Electronic Health Records

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Title Integrating constitutional cytogenetic test result reports into Electronic Health Records
Publication Type dissertation
School or College School of Medicine
Department Biomedical Informatics
Author Heras, Yan
Date 2012-08
Description Genetic testing is becoming increasingly important to medical practice since the completion of the Human Genome project. To realize the full promise of personalized medicine, we need to first integrate genetic and genomic information into Electronic Health Records (EHRs) as coded and structured data using standards. However, EHRs are not ready for genomic medicine; lack of standardized information models and termi-nologies for genetic and genomic data representation is recognized as one of the major barriers. In this study, we have focused on constitutional cytogenetic tests. We first evaluat-ed the Logical Observation Identifiers Names and Codes (LOINC), the de facto vocabu-lary standard for representing laboratory test names and results, and identified that a gap exists in LOINC to support the integration of cytogenetic test results into EHRs. We ana-lyzed sample clinical reports from several large cytogenetics laboratories, and developed LOINC panels and codes for representing constitutional cytogenetic test findings through the LOINC panel approach. The LOINC committee approved the cytogenetic LOINC panels and officially released them as part of the LOINC database in December 2010. We then followed the well vetted standard development process of Health Level Seven (HL7), developed and balloted a HL7 version 2 implementation guide that details how these LOINC panels are coupled with the messaging standard to transfer cytogenetic test iv results over the wire. We also described the advantages of coupling the LOINC panel content to HL7 version 2 messages, and why we think this approach could be a practical and efficient way for implementers to develop interfaces that utilize standard information models bound to standard terminologies. We have filled the gap that there were no standard information models and no standard terminologies for representing constitutional cytogenetic test results, and have developed the foundation to allow incremental enhancement in the future.
Type Text
Publisher University of Utah
Subject MESH Electronic Health Records; Cytogenetic Analysis; Molecular Diagnostic Techniques; Genetic Testing; Logical Observation Identifiers Names and Codes
Dissertation Institution University of Utah
Dissertation Name Doctor of Philosophy
Language eng
Relation is Version of Digital reproduction of Inegrating Constitutional Cytogenetic Test Result Reports into Electronic Health Records. Spencer S. Eccles Health Sciences Library. Print version available at J. Willard Marriott Library Special Collections.
Rights Management Copyright © Yan Heras 2012
Format application/pdf
Format Medium application/pdf
Format Extent 1,527,631 bytes
Source Original in Marriott Library Special Collections,
ARK ark:/87278/s63v2rfr
Setname ir_etd
ID 196320
Reference URL https://collections.lib.utah.edu/ark:/87278/s63v2rfr
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