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Difference between revisions of "GenomicVariantObservation FHIR Profile Proposal"
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* Constraints to integrate clinical genomic standards into FHIR, as outlined in HL7 Version 2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model, Release 2 | * Constraints to integrate clinical genomic standards into FHIR, as outlined in HL7 Version 2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model, Release 2 | ||
:[http://www.hl7.org/implement/standards/product_brief.cfm?product_id=23|HL7 Version 2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model, Release 1 (US Realm)] | :[http://www.hl7.org/implement/standards/product_brief.cfm?product_id=23|HL7 Version 2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model, Release 1 (US Realm)] | ||
| − | * Extensions to support genomic coordinates will be coded in LOINC and added to these terms | + | * Extensions to support genomic coordinates, chromosome, and genome build will be coded in LOINC and added to these terms |
* Additional extensions maybe added as necessary. | * Additional extensions maybe added as necessary. | ||
** Note the use of LOINC codes to qualify genetic/genomic results will be strongly recommended but not required. | ** Note the use of LOINC codes to qualify genetic/genomic results will be strongly recommended but not required. | ||
Revision as of 03:02, 20 May 2014
This page documents a Pending FHIR Resource Proposal
GeneticVariantObservation
Resource Details
Parent Resource
Constraints to be Applied
- Constraints to integrate clinical genomic standards into FHIR, as outlined in HL7 Version 2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model, Release 2
- Extensions to support genomic coordinates, chromosome, and genome build will be coded in LOINC and added to these terms
- Additional extensions maybe added as necessary.
- Note the use of LOINC codes to qualify genetic/genomic results will be strongly recommended but not required.
- Additionally, using these same LOINC codes/panels to qualify genetic/genomic data has also been demonstrated in HL7 IG for CDA R2: Genetic Testing Reports, Release 1 - GTR
- Finally, the genetic/genomic information will be aligned with the Clinical Genomic DAM and DIM to be balloted in Sept 2014
- The DAM & DIM will also be backwards compatible to the v.2.5.1 and CDA Genetic Test Report (mentioned above)
Extensions to be Applied
- See above
Example Scenarios
- Full scenarios are outlined within the v 2.5.1 IG for genetic test reporting and the DAM. These include:
- Genetic test reporting of gene variants found without interpretation, with interpretation associated with drug efficacy and/or resistance, drug metabolism, disease diagnosis, and disease risk
- Transmission of a genetic/genomic data file containing 'raw' data from the test
Scope of coverage
- Human
- Clinical testing scenarios, clinical trails, and translational medicine
- Universal with match to guidance to US Realm
Ownership
Owning committee name
Contributing or Reviewing Work Groups
- Anatomic Pathology
- Orders and Observations
- Image Integration
Expected implementations
- Harvard - Partners
- Haifa University
- Intermountain Healthcare
gForge Users
FHIR Profile Development Project Insight ID
Plans
Timelines
- TargetDateForInternalReview
Balloting Requirements
Choose one:
- Ballot with next FHIR DSTU or Normative Edition
Desired Ballot Date
- Aug/Sept 2014 DSTU
