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Difference between revisions of "GenomicVariantObservation FHIR Profile Proposal"

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<!--Put a link to the resource/datatype (or group of resources) that will be profiled here.-->
 
<!--Put a link to the resource/datatype (or group of resources) that will be profiled here.-->
 
* [[ParentResourceAddress|ResourceName]]
 
* [[ParentResourceAddress|ResourceName]]
 +
* Observation
  
 
====Constraints to be Applied====
 
====Constraints to be Applied====
  
 
<!--Describe how the current resource will be constrained.-->
 
<!--Describe how the current resource will be constrained.-->
* Constraint 1
+
* Constraints to integrate clinical genomic standards into FHIR, as outlined in
* Constraint 2
+
'''''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)]
 +
* 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'''''
 +
:[http://www.hl7.org/implement/standards/product_brief.cfm?product_id=292\:HL7 Implementation Guide for CDA® Release 2: Genetic Testing Reports, Release 1]
 +
* 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====
 
====Extensions to be Applied====
  
 
<!--Describe how the current resource will be extended.-->
 
<!--Describe how the current resource will be extended.-->
* Extension 1
+
* See above
* Extension 2
 
  
 
===Example Scenarios===
 
===Example Scenarios===

Revision as of 02:28, 20 May 2014



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

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
  • 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

Implementation Guide for CDA® Release 2: Genetic Testing Reports, Release 1
  • 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

Scope of coverage

Ownership

Owning committee name

YourCommitteeName

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