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  1. FHIR Specification Feedback
  2. FHIR-32872

mCODE CancerGeneticVariant missing clinical significance

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    Details

    • Type: Change Request
    • Status: Resolved - change required (View Workflow)
    • Priority: Medium
    • Resolution: Not Persuasive with Modification
    • Specification:
      US Minimal Common Oncology Data Elements (mCODE) (FHIR)
    • Raised in Version:
      1.16.0
    • Work Group:
      Clinical Interoperability Council
    • Related Artifact(s):
      Cancer Genetic Variant
    • Grouping:
    • Resolution Description:
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      While we agree to support a representation of clinical significance, we believe that the HL7 Genomics Reporting DiagnosticImplication design is not optimal in using patient-centric Observation. Clinical significance is is more tied to a knowledgebase representation of a variant and not patient-centric.

      So we propose instead to represent the HL7 CG Reporting IG DiagnosticImplication:Observation.component[clinical-signficance] translated into CancerGeneticVariant:Observation.component[clinical-significance] instead. 

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      While we agree to support a representation of clinical significance, we believe that the HL7 Genomics Reporting DiagnosticImplication design is not optimal in using patient-centric Observation. Clinical significance is is more tied to a knowledgebase representation of a variant and not patient-centric. So we propose instead to represent the HL7 CG Reporting IG DiagnosticImplication:Observation.component [clinical-signficance] translated into CancerGeneticVariant:Observation.component [clinical-significance] instead. 
    • Resolution Vote:
      Saul Kravitz/Sherita Alai:4-0-0
    • Change Category:
      Correction
    • Change Impact:
      Compatible, substantive
    • Pre Applied:
      Yes

      Description

      The CancerGeneticVariant profile does not contain a way to clearly designate clinical significance (e.g.: benign, likely benign, likely pathogenic, etc..) in a way that aligns with the HL7 Clinical Genomics Reporting IG. The CG Reporting IG currently represents this in a profile called DiagnosticImplication and would need a reference to CancerGeneticVariant via the derivedFrom element.

       

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            Assignee:
            may_terry May Terry
            Reporter:
            may_terry May Terry
            Request in-person:
            May Terry
            Watchers:
            1 Start watching this issue

              Dates

              Created:
              Updated:
              Resolved:
              Vote Date: