GenomicVariant-Observation FHIR Resource Proposal

GeneticVariantObservation

Resource Details

Extension of Observation for support of genetic/genomic DNA variants consistant with the Clinical Genomics DAM and DIM and backwards compatible with the v2.5.1, CCD, and CDA representation of genetic or sequence variant.

Parent Resource

• ResourceName

Constraints to be Applied

• Internationally accepted standards used for clinical reporting of genetic variants
  • HGVS Nomenclature
  • HGNC Gene symbols
  • NCBI Ref Seq, EBI-Ensembl reference sequence, or LRG reference sequence
  • For complete list see the Clinical Genomics DAM
• Qualification of the data using LOINC is recommended but not required

Extensions to be Applied

• Extension 1
• Extension 2

Ownership

Owning committee name

YourCommitteeName

Contributing or Reviewing Work Groups

• Work Group Name
• or link
• or "None"

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