Align GeneticVariantFound to CG's Variant profile

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    • Type: Change Request
    • Resolution: Duplicate
    • Priority: Medium
    • US Minimal Common Oncology Data Elements (mCODE) (FHIR)
    • STU3
    • Clinical Interoperability Council
    • STU
    • Profiles
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      Duplicate issue with GForge issue 23999.

      Noted. The mCODE IG authors were initially trying to align with the Genomics Reporting IG but could not directly reference those IGs because it contained many must-support constraints on elements which the primary target audience of mCODE (EHRs) did not need.

      We will however work more actively with the CGWG to find better alignment with the Genomics Reporting IG for the next release.

      Recommended resolution: Persuasive

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      Duplicate issue with GForge issue 23999. Noted. The mCODE IG authors were initially trying to align with the Genomics Reporting IG but could not directly reference those IGs because it contained many must-support constraints on elements which the primary target audience of mCODE (EHRs) did not need. We will however work more actively with the CGWG to find better alignment with the Genomics Reporting IG for the next release. Recommended resolution: Persuasive
    • MayTerry/Richard Esmond: 14-0-0
    • Enhancement

      Would be better if the GeneticVariantFound profile more closely followed the Variant profile from the Clinical Genomics Working Group: http://build.fhir.org/ig/HL7/genomics-reporting/obs-variant.html Realize that it has many optional component observations and you would likely want to sub select. It would be important to carry the property that provides codes for the variant via multiple alternate coding systems. Also realize that different profiles exist for pharacogenomics, drug and prognostic implications for somatic variants. The working group is still finalizing some of them. See here for an overvall UML: http://build.fhir.org/ig/HL7/genomics-reporting/sequencing.html Not suggesting that you follow it compulsively but it has most of what you need (and maybe more than you need).

            Assignee:
            May Terry
            Reporter:
            clemmcdonald
            Watchers:
            2 Start watching this issue

              Created:
              Updated:
              Resolved: