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  1. FHIR Specification Feedback
  2. FHIR-24478

Lacks cytogenetics or structured variant reporting, consider adopting component:cytogenomic-nomenclature in the CG IG - MCODE #31

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    • Icon: Change Request Change Request
    • Resolution: Persuasive
    • Icon: Medium Medium
    • US Minimal Common Oncology Data Elements (mCODE) (FHIR)
    • STU3
    • Clinical Interoperability Council
    • (NA)
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      Agreed that mCODE was not specific in representing cytogenetic results which may be relevant for cancer. mCODE included some cytogenetic tests under the TumorMarkerTestVS value set, but the associated profile, TumorMarkerTest but the representation using ISCN nomenclature is better fit in GeneticVariantFound. We will add the component cytogenomic-nomenclature from the CG IG.

      Proposed resolution: Persuasive.

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      Agreed that mCODE was not specific in representing cytogenetic results which may be relevant for cancer. mCODE included some cytogenetic tests under the TumorMarkerTestVS value set, but the associated profile, TumorMarkerTest but the representation using ISCN nomenclature is better fit in GeneticVariantFound. We will add the component cytogenomic-nomenclature from the CG IG. Proposed resolution: Persuasive.
    • Richard Esmond/May Terry: 12-0-1
    • Enhancement
    • Compatible, substantive

    Description

      Comment:

      The current IG lacks cytogenetics or structured genetic variant reporting. Suggest looking at ISCN and perhaps use as HGVS has been used for a ChromosomalStructueFindings component. Look at component:cytogenomic-nomenclature in the CG IG for an example http://build.fhir.org/ig/HL7/genomics-reporting/obs-variant.html. consider adopting the component (essentially copy/paste from the CG WG IG. If you like, mention the CG WG IG In the component definition to make the connection obvious to implementors?)

      Summary:

      Lacks cytogenetics or structured variant reporting, consider adopting component:cytogenomic-nomenclature in the CG IG

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            may_terry May Terry
            bheale Bret Heale
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              Created:
              Updated:
              Resolved: