Integrating genomic resources with electronic health records using the HL7 infobutton standard

Bret S.E. Heale, Casey Lynnette Overby, Guilherme Del Fiol, Wendy S. Rubinstein, Donna R. Maglott, Tristan H. Nelson, Aleksandar Milosavljevic, Christa L. Martin, Scott R. Goehringer, Robert R. Freimuth, Marc S. Williams

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Background: The Clinical Genome Resource (ClinGen) Electronic Health Record (EHR) Workgroup aims to integrate ClinGen resources with EHRs. A promising option to enable this integration is through the Health Level Seven (HL7) Infobutton Standard. EHR systems that are certified according to the US Meaningful Use program provide HL7-compliant infobutton capabilities, which can be leveraged to support clinical decision-making in genomics. Objectives: To integrate genomic knowledge resources using the HL7 infobutton standard. Two tactics to achieve this objective were: (1) creating an HL7-compliant search interface for ClinGen, and (2) proposing guidance for genomic resources on achieving HL7 Infobutton standard accessibility and compliance. Methods: We built a search interface utilizing OpenInfobutton, an open source reference implementation of the HL7 Infobutton standard. ClinGen resources were assessed for readiness towards HL7 compliance. Finally, based upon our experiences we provide recommendations for publishers seeking to achieve HL7 compliance. Results: Eight genomic resources and two sub-resources were integrated with the ClinGen search engine via OpenInfobutton and the HL7 infobutton standard. Resources we assessed have varying levels of readiness towards HL7-compliance. Furthermore, we found that adoption of standard terminologies used by EHR systems is the main gap to achieve compliance. Conclusion: Genomic resources can be integrated with EHR systems via the HL7 Infobutton standard using OpenInfobutton. Full compliance of genomic resources with the Infobutton standard would further enhance interoperability with EHR systems.

Original languageEnglish (US)
Pages (from-to)817-831
Number of pages15
JournalApplied clinical informatics
Issue number3
StatePublished - 2016


  • Clinical decision support
  • Clinical information systems
  • Genetics
  • HL7
  • Standards adoption

ASJC Scopus subject areas

  • Health Informatics
  • Computer Science Applications
  • Health Information Management


Dive into the research topics of 'Integrating genomic resources with electronic health records using the HL7 infobutton standard'. Together they form a unique fingerprint.

Cite this