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HL7, announced its Version 2 messaging standard has successfully gathered structured and coded genetic tests results from a lab and transmitted them to an individual patient’s EHR for the first time.

The current standard for genetic test results is either paper or electronic narrative reports. The guide, titled HL7 Version 2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model, Release 1, details structuring a genetic test result into the EHR utilizing HL7 Version 2.5.1. It is based on both the HL7 Version 2 Implementation Guide Laboratory Result Reporting to the EHR, and the HL7 Version 3 Genetic Variation data model.

The guide covers the reporting of genetic test results for sequencing and genotyping based tests where identified DNA sequence variants (i.e. mutations) are located within a gene. This includes testing for DNA variants associated with disease and pharmacogenomic applications, such as predicting a patient’s responsiveness to drug therapy and drug metabolism rate. It is fully-LOINC qualified, meaning that new LOINC codes have been created to represent the test components and results. LOINC codes offer the consistency of representation across different message types and for clinical decision support.

The implementation guide was used by The Partners HealthCare Center for Personalized Genetic Medicine (PCPGM) and the Intermountain Healthcare Clinical Genetics Institute to gather genetic test results and transmit them to an individual patient’s electronic health record for the first time. The results were sent by a direct computer interface from PCPGM to Intermountain Healthcare.

“This work aligns with national efforts to re-examine and improve healthcare delivery,” says Mollie Ullman-Cullere, PCPGM senior information architect and co-chair of HL7 Clinical Genomics Work Group. The work group is comprised of volunteers who come from prominent healthcare systems, major laboratories, and leading healthcare IT software vendors.

“The project is among the first in the country that will create a standardized advanced electronic patient record system containing genetic data,” says Stan Huff, chief medical informatics officer for Intermountain Healthcare and HL7 International board member. “This may lead to the electronic health record of the future, which would support treatment plans that are tailor made for each individual — right down to their DNA.”

Huff’s team at Intermountain Healthcare worked with Partners HealthCare for 14 months to build the framework for receiving test results and integrating them into a patient’s electronic health record. During this time the Partners team developed a lab reporting system that would create and send out the test result message through a centralized interface hub. Any lab or EHR that implements this HL7 standard can interface with this hub.

Utilizing this Version 2 implementation guide, Intermountain and Partners Healthcare are working to make this genetic information available within the EHR, including clinical decision support, linkage to clinical genetic knowledge bases (keeping clinical interpretations on the variants up-to-date), and tools for pharmacogenomics and drug order entry. Clinicians expect to use genetic data for confirmatory diagnosis or risk for developing the disease, and determination of drug metabolism, drug efficacy, or drug toxicity.

Forming a more complete diagnostic picture for inherited conditions may require augmenting genetic data with family history data, represented by the HL7 Version 3 Pedigree model.

Source: HL7

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