This wiki has undergone a migration to Confluence found Here
Difference between revisions of "GenomicVariantObservation FHIR Profile Proposal"
Jump to navigation
Jump to search
| Line 65: | Line 65: | ||
===Scope of coverage=== | ===Scope of coverage=== | ||
| + | * Human | ||
| + | * Clinical testing scenarios, clinical trails, and translational medicine | ||
| + | * Universal with match to guidance to US Realm | ||
<!-- Define the full scope of coverage for the Profile. The scope must be clearly delineated such that it does not overlap with any other existing or expected Profile. The scope will be used to govern "what is the set of potential applications to consider when evaluating what elements are 'core' – i.e. in the 80%" | <!-- Define the full scope of coverage for the Profile. The scope must be clearly delineated such that it does not overlap with any other existing or expected Profile. The scope will be used to govern "what is the set of potential applications to consider when evaluating what elements are 'core' – i.e. in the 80%" | ||
Revision as of 02:35, 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
- 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
- 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
