Develop FHIR artifacts for clinical genomics

Description

This project will identify and define extensions, profiles, terminologies standards and resources necessary for the reporting of clinical genetic/genomic/biomolecular findings and interpretations related to the domain of clinical genetics/genomics sufficient for precision medicine. This includes items like extensions, profiles, domain specific examples, implementation guides, and a sequencing resource. This work will be defined using the available FHIR tooling and in accordance with documented quality guidelines and balloted as part of the initial FHIR specification. The GeneticsObservation profile will then be extended to allow for links to sequence. In addition, as the committee deems appropriate and time availability permits, it will define a FHIR extensions relevant to domain content and expected to be necessary to support consistent early implementations including ability to link to external data, knowledge, and lab organizations.

Misc Notes
2024 December: TSC approved STU Publication Request for HL7 FHIR Implementation Guide: Clinical Genomics, Edition 3 for 2 years 2022 February: TSC Approved STU Publication Request for HL7 FHIR Implementation Guide: Clinical Genomics, STU 2 2020 March: KPowers: We are really close to publishing. We hope to vote this week and should be submitting a publication request very soon. 2020 Jan: PWerner: Update project facilitators: all co-chairs; change the project name (expand beyond Seq resource) to 'Develop FHIR artifacts for clinical genomics' 2019 Nov: TSC approved STU Publication Request for HL7 FHIR® Implementation Guide: Clinical Genomics, Release 1 for 24 months 2018: FMG determined that FHIR Implementation Guides will be balloted separately from Core. The Work Group submitted a NIB for a FHIR IG and an updated PSS to clarify this. Per TJulian: although this PSS refers to external content, that external content is NOT standard(s) on which the project will be built, therefore ARB review is not necessary. We found out more info about this IG at http://wiki.hl7.org/index.php?title=ClinicalGenomics_FHIR_IG_Proposal Updated target dates to Jan 2019 based the FHIR STU R4 timeline. Updated target dates to May, 2017 based the FHIR timeline. Nov 2105: G. Alterovitz - This project replaces project 1110. This project will not ballot directly. Instead, content will be combined with resources from other committees and jointly balloted as part of the next FHIR DSTU ballot (managed as a distinct TSC project).