XMLWordPrintableJSON

    • Type: Change Request
    • Resolution: Not Persuasive with Modification
    • Priority: Medium
    • Genomics Reporting (FHIR)
    • STU3
    • Clinical Genomics
    • (profiles) [deprecated]
    • 1.2.5
    • Hide

      Not Persuasive with mod

      Mark the somatic impact profiles as DRAFT, the others have seen more discussion. Alternatives in the next round of balloting would be considered.

      Show
      Not Persuasive with mod Mark the somatic impact profiles as DRAFT, the others have seen more discussion. Alternatives in the next round of balloting would be considered.
    • James J / Joseph K: 11-0-0
    • Enhancement
    • Non-substantive

      There are SEVEN Genetic Impact classes (inherited disease pathogenicity, high risk allele, genotype medication metabolism impact, genotype medication efficacy impact, somatic diagnostic impact, somatic prognostic impact, somatic predictive impact). Consider collapsing all these into a single Genetic Impact class. Rationale: [1] the large number of profiles adds complexity to a model where a critical focus right now needs to be on the structured representation of variants and observed sequences; [2] Representation of genetic impact is evolving, so it might be premature to try to nail down the profiles. (We could for now, as an interim, have a single Genetic Impact class, along with a value set of LOINC Genetic Impact observations and associated LOINC answer codes)

            Assignee:
            Unassigned
            Reporter:
            Bob Dolin
            Watchers:
            1 Start watching this issue

              Created:
              Updated:
              Resolved: