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HL7, the global interoperability standards body for healthcare IT, has announced that its messaging standard has successfully coded genetic test results from a lab and transmitted them to an EHR.

The HL7 Version 2 Implementation Guide details how to structure a genetic test result into the EHR using HL7 Version 2.5.1 and covers the reporting of genetic test results for sequencing and genotyping based tests.

The implementation guide was used by The Partners HealthCare Centre for Personalised Genetic Medicine (PCPGM) and the Intermountain Healthcare Clinical Genetics Institute to obtain genetic test results and transmit them directly through a computer interface from PCPGM to Intermountain Healthcare to the EHR.

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

Huff worked with PCPGM for 14 months to build the framework for receiving test results and integrating them into an EHR. At the same the time the Partners team also developed a lab reporting system that would create and send out the test results message through a centralised interface hub. Any lab or EHR that implements the HL7 standard can now interface with the hub.

Using the guide, Intermountain and Partners Healthcare are now working to make the genetic information available within the EHR, including clinical decision support, linkage to clinical genetic knowledge bases and drug order entry.