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  1. FHIR Specification Feedback
  2. FHIR-32872

mCODE CancerGeneticVariant missing clinical significance

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    • Icon: Change Request Change Request
    • Resolution: Not Persuasive with Modification
    • Icon: Medium Medium
    • US Minimal Common Oncology Data Elements (mCODE) (FHIR)
    • 1.16.0 [deprecated]
    • Clinical Interoperability Council
    • Cancer Genetic Variant [deprecated]
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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. 
    • Saul Kravitz/Sherita Alai:4-0-0
    • Correction
    • Compatible, substantive
    • 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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            may_terry May Terry
            may_terry May Terry
            May Terry
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