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Difference between revisions of "GenomicVariantObservation FHIR Profile Proposal"
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<!-- Provide a listing of the types of scenarios to be represented in the examples produced for this Profile. They should demonstrate the full scope of the Profile and allow exercising of the Profiles capabilities (full element coverage, inclusion & omission of optional elements, repeating and singleton repeating elements, etc.) --> | <!-- Provide a listing of the types of scenarios to be represented in the examples produced for this Profile. They should demonstrate the full scope of the Profile and allow exercising of the Profiles capabilities (full element coverage, inclusion & omission of optional elements, repeating and singleton repeating elements, etc.) --> | ||
| + | * 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=== | ===Scope of coverage=== | ||
Revision as of 02:32, 20 May 2014
This page documents a Pending FHIR Resource Proposal
GeneticVariantObservation
Resource Details
Parent Resource
- ResourceName
- Observation
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 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 LOINC to qualify genetic/genomic data has also been demonstrated in the following:
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 currently underdevelopment
- 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
Ownership
Owning committee name
Contributing or Reviewing Work Groups
- Work Group Name
- or link
- or "None"
Expected implementations
gForge Users
FHIR Profile Development Project Insight ID
Plans
Timelines
- TargetDateForInternalReview
Balloting Requirements
Choose one:
- Ballot with next FHIR DSTU or Normative Edition
- or Ballot independently as DSTU
- or Realm specific ballot
- or No Ballot
Desired Ballot Date
- PutDesiredBallotDateHere
