Integrating constitutional cytogenetic test result reports into Electronic Health Records

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.