GenomicVariantObservation FHIR Profile Proposal

GeneticVariantObservation

Resource Details

Parent Resource

• [Observation FHIR 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

Plans

Timelines

• TargetDateForInternalReview

Balloting Requirements

Choose one:

• Ballot with next FHIR DSTU or Normative Edition

Desired Ballot Date

• Aug/Sept 2014 DSTU