GenomicVariantObservation FHIR Profile Proposal

From HL7Wiki
Jump to navigation Jump to search



GeneticVariantObservation

Resource Details

Parent Resource

Constraints to be Applied

  • Constraints to integrate clinical genomic standards into FHIR, as outlined in the following 2 guides:
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)
HL7 IG for CDA R2: Genetic Testing Reports, Release 1 - GTR
Implementation Guide for CDA® Release 2: Genetic Testing Reports, Release 1
  • Extensions to support genomic coordinates, chromosome, and genome build and HLA typing 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
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 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

  • For extensions to the current genetic/genomic LOINC panels 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
    • HLA typing for stem cell matching

Scope of coverage

  • Human
  • Clinical testing scenarios, clinical trails, and translational medicine
  • Universal with match to guidance to US Realm


Ownership

Owning committee name

Clinical Genomics Workgroup

Contributing or Reviewing Work Groups

  • Anatomic Pathology
  • Orders and Observations
  • Image Integration

Expected implementations

  • Harvard - Partners
  • Haifa University
  • Intermountain Healthcare
  • NMDP - National Marrow Donor Program

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