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. 2016 Aug 31;7(3):817-31.
doi: 10.4338/ACI-2016-04-RA-0058.

Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard

Bret S E Heale  1 , Casey Lynnette Overby, Guilherme Del Fiol, Wendy S Rubinstein, Donna R Maglott, Tristan H Nelson, Aleksandar Milosavljevic, Christa L Martin, Scott R Goehringer, Robert Freimuth, Marc S Williams
Affiliations

Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard

Bret S E Heale et al. Appl Clin Inform. .

Abstract

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.

Keywords: Clinical information systems; HL7; clinical decision support; genetics; standards adoption.

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Conflict of interest statement

The authors declare that they have no conflicts of interest in the research.

Figures

Fig. 1
Fig. 1
OpenInfobutton architecture and information flow from compliant resources. (a) An HL7-compliant URL request that contains context parameters is sent from the EHR to OpenInfobutton. (b) Resource profiles are selected which match the EHR context, and (c) an infobutton response is produced with links to those resources. (d) OpenInfobutton responses can take the form of non-HL7 IB HTML and as HL7 IB XML/JSON. (e) Additionally, if a resource is HL7 IB compliant, OpenInfobutton can send the resource an HL7 IB request and (f) process HL7 IB responses.
Fig. 2
Fig. 2
Diagram of website development. Initially, the website contained static links to resources based on an initial list composed by the chair of the ClinGen EHR WG (MW). A survey was performed at the ACMG 2014 conference, after feedback from the ClinGen steering committee and the EHR WG, to gain a broader sense of what resources to include. BH designed/developed the initial prototype for the genomics search interface by combining the OpenInfobutton Demo EHR and the current ClinGen site. SG and BH refactored the site to improve performance, and the UI was further refined with comments from the ClinGen EHR WG. The resource profiles were developed by BH with guidance from GDF. CO aided in gaining feedback from OMIM, PharmGKB and the NCBI. At each stage collaboration between individuals and groups was key.
Fig. 3
Fig. 3
A screenshot of the ClinGen EHR WG OpenInfobutton search interface. (a) As text is typed into the search bar, suggestions for autocompleting are provided from the controlled vocabulary. (b) After search initiation, context dependent links to resources are provided in a menu (c) with the first resource link displayed in a frame. (d) Tabs for clinician or patient provider are found above the search bar.
Fig. 4
Fig. 4
Data flow from the ClinGen search interface to OpenInfobutton. (a) When the search button is selected the ClinGen EHR resource page creates an HL7 Infobutton request that sends the context of the search to OpenInfobutton, similarly to an EHR generated infobutton request. The context includes the search term (i. e., main clinical concept of interest, selected from a controlled vocabulary through a drop-down list), the user’s role (clinician, laboratorian, researcher or patient) and the identifier for ClinGen, the organization making the request. (b) Next, the context is matched to the resource profiles within OpenInfobutton. (c) URLs from resources matching the context parameters are collated (d) and sent as a response to the ClinGen EHR Resource. As seen on the left side of the figure, the ClinGen resource page parses the OpenInfobutton response and displays the context sensitive links on a menu to the left of a frame containing the web-site of the first listed resource link.
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References

    1. Zook J, Salit M. Chapter 23 – Genomic Reference Materials for Clinical Applications. Pfeifer SK, editor. Clinical Genomics [Internet]. Boston: Academic Press; 2015. p. 393–402. Available from: http://www.sciencedirect.com/science/article/pii/B978012404748800023X
    1. Biesecker LG, Green RC. Diagnostic Clinical Genome and Exome Sequencing. N Engl J Med 2014; 370(25):2418–2425. - PubMed
    1. ACMG Board of Directors. Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet Med 2015; 17(6):505–507. - PubMed
    1. Leape LL, Bates DW, Cullen DJ, Cooper J, Demonaco HJ, Gallivan T, Hallisey R, Ives J, Laird N, Laffel G. Systems analysis of adverse drug events. ADE Prevention Study Group. JAMA 1995; 274(1):35–43. - PubMed
    1. Institute of Medicine (U.S.), Committee on Quality of Health Care in America. Crossing the quality chasm a new health system for the 21st century [Internet]. Washington, D.C.: National Academy Press; 2001. Available from: http://site.ebrary.com/id/10032412

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