The September 2014 Informative Ballot “Health Level Seven International (HL7) Clinical Genomics, Domain Analysis Model: Clinical Sequencing Release 1” provided guiding use cases, which initially informed development of the initial Standard Genetics profile that is found in Fast Healthcare Interoperability Resources (FHIR) Draft Standard for Trial Use 2 (DSTU2). The same use cases also led to a second Project to develop a MolecularSequence resource (“Develop FHIR sequence resource for Clinical Genomics”). A preliminary effort to address these issues has been explored and published in context of the Substitutable Medical Applications and Reusable Technologies (SMART) Platforms Project and described in an article (“SMART on FHIR Genomics: Facilitating standardized clinico-genomic apps”).
Molecular Sequence is designed to hold genetic sequences in blocks relevant to actionable clinical decision-making. Extensions to Molecular Sequence address complex cases and can associate it with repositories for retrieving a patient’s full sequence data, such as those defined by Global Alliance for Genomics and Health (GA4GH). Other changes include a suite of genetics profiles for other FHIR resources. In addition, the Observation-genetics profile adds new references so that an Observation can report genetics test results to be integrated into the EHR. There are also new genetics-extension profiles for Diagnostic Report, Service Request and Family Member History, respectively, to extend them to report genetics results. All these FHIR genetics profiles the suffix “-genetics” (e.g. “Diagnostic Report-genetics profile”) are given. New profiles on top of DiagnosticReport have been created for reporting HLA genotyping results.
With these resource and profiles, FHIR can support a large set of clinical use cases (see Section 9, 10 and 11) and is thus positioned to address all emergent -omics use cases, including Next-Generation Sequencing (NGS). These tools are simple to implement, will optimize payload sizes, and help developers avoid redundant retrieval of data.