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

Summary

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.

Citation: Heale BSE, Overby CL, Del Fiol G, Rubinstein WS, Maglott DR, Nelson TH, Milosavljevic A, Martin CL, Goehringer SR, Freimuth RR, Williams MS. Integrating genomic resources with electronic health records using the HL7 Infobutton standard.

Keywords

Clinical information systems - standards adoption - HL7 - genetics - clinical decision support

 

Conflicts of Interest

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

• References

• 1 Zook J, Salit M. Chapter 23 - Genomic Reference Materials for Clinical Applications. In: Pfeifer SK. editor. Clinical Genomics [Internet]. Boston: Academic Press; 2015: 393-402 Available from: http://www.sciencedirect.com/science/article/pii/B978012404748800023X
• 2 Biesecker LG, Green RC. Diagnostic Clinical Genome and Exome Sequencing. N Engl J Med 2014; 370 (25) 2418-2425.
• 3 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 (06) 505-507.
• 4 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 (01) 35-43.
• 5 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
• 6 Smith R. Strategies for coping with information overload. BMJ 2010; 341 (dec15 2): c7126-c7126.
• 7 Del Fiol G, Workman TE, Gorman PN. Clinical questions raised by clinicians at the point of care: a systematic review. JAMA Intern Med 2014; 174 (05) 710-718.
• 8 Pluye P, Grad RM, Dunikowski LG, Stephenson R. Impact of clinical information-retrieval technology on physicians: A literature review of quantitative, qualitative and mixed methods studies. Int J Med Inf 2005; 74 (09) 745-768.
• 9 Isaac T, Zheng J, Jha A. Use of UpToDate and outcomes in US hospitals. J Hosp Med 2012; 07 (02) 85-90.
• 10 Bonis PA, Pickens GT, Rind DM, Foster DA. Association of a clinical knowledge support system with improved patient safety, reduced complications and shorter length of stay among Medicare beneficiaries in acute care hospitals in the United States. Int J Med Inf 2008; 77 (11) 745-753.
• 11 Del Fiol G, Haug PJ, Cimino JJ, Narus SP, Norlin C, Mitchell JA. Effectiveness of Topic-specific Infobuttons: A Randomized Controlled Trial. J Am Med Inform Assoc JAMIA 2008; 15 (06) 752-759.
• 12 Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS. ClinGen -the Clinical Genome Resource. N Engl J Med 2015; 372 (23) 2235-2242.
• 13 NCBI Resource Coordinators. Database resources of the National Center for Biotechnology Information. Nucleic Acids Res 2015; 43 (Database issue): D6-D17.
• 14 Cabana MD, Rand CS, Powe NR, Wu AW, Wilson MH, Abboud PA, Rubin HR. Why don’t physicians follow clinical practice guidelines? A framework for improvement. JAMA 1999; 282 (15) 1458-1465.
• 15 Overby CL, Rasmussen LV, Hartzler A, Connolly JJ, Peterson JF, Hedberg RE, Freimuth RR, Shirts BH, Denny JC, Larson EB, Chute CG, Jarvik GP, Ralston JD, Shuldiner AR, Starren J, Kullo IJ, Tarczy-Hornoch P, Williams MS. A Template for Authoring and Adapting Genomic Medicine Content in the eMERGE Infobutton Project. AMIA Annu Symp Proc AMIA Symp AMIA Symp 2014; 2014: 944-953.
• 16 Devine EB, Lee C-J, Overby CL, Abernethy N, McCune J, Smith JW, Tarczy-Hornoch P. Usability evaluation of pharmacogenomics clinical decision support aids and clinical knowledge resources in a computerized provider order entry system: A mixed methods approach. Int J Med Inf 2014; 83 (07) 473-483.
• 17 Overby CL, Tarczy-Hornoch P, Kalet IJ, Thummel KE, Smith JW, Fiol GD, Fenstermacher D, Devine EB. Developing a Prototype System for Integrating Pharmacogenomics Findings into Clinical Practice. J Pers Med 2012; 02 (04) 241-256.
• 18 Del Fiol G, Williams MS, Maram N, Rocha RA, Wood GM, Mitchell JA. Integrating genetic information resources with an EHR. AMIA Annu Symp Proc AMIA Symp AMIA Symp 2006; 904.
• 19 Cimino JJ. Use, usability, usefulness, and impact of an infobutton manager. AMIA Annu Symp Proc AMIA Symp AMIA Symp 2006; 151-155.
• 20 Maviglia SM, Yoon CS, Bates DW, Kuperman G. KnowledgeLink: impact of context-sensitive information retrieval on clinicians’ information needs. J Am Med Inform Assoc JAMIA 2006; 13 (01) 67-73.
• 21 Health Information Technology: Standards, Implementation Specifications, and Certification Criteria for Electronic Health Record Technology. 2014 Edition, Final Rule, 171, 2012. Available from: http://www.gpo.gov/fdsys/pkg/FR-2012-09-04/pdf/2012-20982.pdf.
• 22 HL7 Standards Product Brief - HL7 Version 3 Standard: Context Aware Knowledge Retrieval Application (“Infobutton”), Knowledge Request, Release 2. Available from: http://www.hl7.org/implement/standards/ product_brief.cfm?product_id=208.
• 23 Certified Health IT Product List (CHPL) | Policy Researchers & Implementers | HealthIT.gov. Available from: http://www.healthit.gov/policy-researchers-implementers/certified-health-it-product-list-chpl
• 24 Cimino JJ, Elhanan G, Zeng Q. Supporting infobuttons with terminological knowledge. Proc Conf Am Med Inform Assoc AMIA Annu Fall Symp AMIA Fall Symp 1997; 528-532.
• 25 Del Fiol G, Huser V, Strasberg HR, Maviglia SM, Curtis C, Cimino JJ. Implementations of the HL7 Context-Aware Knowledge Retrieval (“Infobutton”) Standard: challenges, strengths, limitations, and uptake. J Biomed Inform 2012; Aug; 45 (04) 726-35.
• 26 Cimino JJ, Li J, Bakken S, Patel VL. Theoretical, empirical and practical approaches to resolving the unmet information needs of clinical information system users. Proc AMIA Annu Symp AMIA Symp 2002; 170-174.
• 27 Del Fiol G, Curtis C, Cimino JJ, Iskander A, Kalluri ASD, Jing X, Hulse NC, Long J, Overby CL, Schardt C, Douglas DM. Disseminating context-specific access to online knowledge resources within electronic health record systems. Stud Health Technol Inform 2013; 192: 672-676.
• 28 Cimino JJ, Jing X, Del Fiol G. Meeting the electronic health record “meaningful use” criterion for the HL7 infobutton standard using OpenInfobutton and the Librarian Infobutton Tailoring Environment (LITE). AMIA Annu Symp Proc AMIA Symp AMIA Symp 2012; 2012: 112-120.
• 29 HL7 Standards Product Brief - HL7 Version 2 Implementation Guide: Clinical Genomics; Fully LOINCQualified Genetic Variation Model (US Realm). Available from: http://www.hl7.org/implement/stan dards/product_brief.cfm?product_id=23.
• 30 Sayers E. A General Introduction to the E-utilities. 2010 Available from: http://www.ncbi.nlm.nih.gov/books/NBK25497/
• 31 RxNorm RESTful Web API User’s Guide. Available from: http://rxnav.nlm.nih.gov/RxNormRestAPI.html
• 32 Cutting E, Banchero M, Cimino JJ, Del Fiol G, Hoffman M, Kawamoto K, Pincus H, Suldiner A, Williams MS, Gurses A, Beitelshees A, Pollin T, Overby CL. User-centered design of multi-gene sequencing panel reports for clinicians. J Biomed Inform 2016; 63: 1-10.