Prototype of a Standards-Based EHR and Genetic Test Reporting Tool Coupled with HL7-Compliant Infobuttons

Abstract

Integration of genetic information is becoming increasingly important in clinical practice. However, genetic information is often ambiguous and difficult to understand, and clinicians have reported low-self-efficacy in integrating genetics into their care routine. The Health Level Seven (HL7) Infobutton standard helps to integrate online knowledge resources within Electronic Health Records (EHRs) and is required for EHR certification in the US. We implemented a prototype of a standards-based genetic reporting application coupled with infobuttons leveraging the Infobutton and Fast Healthcare Interoperability Resources (FHIR) Standards. Infobutton capabilities were provided by Open Infobutton, an open source package compliant with the HL7 Infobutton Standard. The resulting prototype demonstrates how standards-based reporting of genetic results, coupled with curated knowledge resources, can provide dynamic access to clinical knowledge on demand at the point of care. The proposed functionality can be enabled within any EHR system that has been certified through the US Meaningful Use program.

Figure 1.

Main screen of the EHR prototype showing the Profile, Problems, Medications, and Results tabs which can be accessed by clicking on the respective tab headings.

Figure 2.

An example of genetic laboratory results as shown in the Results tab. A clinician can click on individual results to view the Clinical Significance, SNP, and a link to the full laboratory report from which each result is retrieved. The infobutton “i” icons can be clicked to send HL7-compiant requests to OpenInfobutton to retrieve information on the clinical interpretation of each result.

Figure 3.

User interface returned from OpenInfobutton in response to a request for information on the gene “HNF1A” when a provider is reviewing the patient’s lab result list. This example shows a resource that could be used for both clinicians and patients.

Figure 4.

User interface returned from OpenInfobutton in response to a request for information on the variant “c.681G>A” when a provider is reviewing the patient’s lab result list. This shows an example of a clinician resource known as “ClinVar.”

Figure 5.

Multi-gene paneling report, which can be accessed from the Results tab. The infobutton links request provider reference information related to genes or variants in the context of genetic test results review.