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  1. FHIR Specification Feedback
  2. FHIR-45434

Clinical Significance vs. Somatic Answer List Addition

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    • Icon: Change Request Change Request
    • Resolution: Persuasive
    • Icon: Medium Medium
    • Genomics Reporting (FHIR)
    • 2.0.0
    • Clinical Genomics
    • Somatic Reporting
    • Hide

      See active branch for proposed changes: https://build.fhir.org/ig/HL7/genomics-reporting/branches/ballot-updates/StructureDefinition-implication.html 

      • GenomicImplication
        • removed STU note
        • added discussion of significance vs. evidence; 
        • reviewed entire page (minor wordsmithing)
        • added clinical-significance component (change to example binding)
        • revised evidence-level definition
        • revised clinical-significance definition
      • DiagnosticImplication
        • removed STU note
        • removed non-conflated semantics discussion; 
        • removed clinical-significance component
        • added pointer to GenomicImplication discussion of significance vs. evidence
      • TherapeuticImplication
        • removed STU note
        • added pointer to GenomicImplication discussion of significance vs. evidence
      • MolecularConsequence
        • added pointer to GenomicImplication discussion of significance vs. evidence
      Show
      See active branch for proposed changes: https://build.fhir.org/ig/HL7/genomics-reporting/branches/ballot-updates/StructureDefinition-implication.html   GenomicImplication :  removed STU note added discussion of significance vs. evidence;  reviewed entire page (minor wordsmithing) added clinical-significance component (change to example binding) revised evidence-level definition revised clinical-significance definition DiagnosticImplication :  removed STU note removed non-conflated semantics discussion;  removed clinical-significance component added pointer to GenomicImplication discussion of significance vs. evidence TherapeuticImplication removed STU note added pointer to GenomicImplication discussion of significance vs. evidence MolecularConsequence added pointer to GenomicImplication discussion of significance vs. evidence
    • Clarification
    • Compatible, substantive
    • Yes

      Bringing forward a request that occurred within a GenomeX meeting. There is a desire to provide an additional information related genomic variants to convey clinical significance for somatic variants. The desire by multiple labs is to create and include information based on the work done by the Cancer Genetics and Genomics Laboratory British Columbia derived from the AMP/ASCO/CAP guidelines PMID:27993330.

      The options are detailed at the link above, but boil down to:

      • TIER 1 – VARIANTS OF STRONG CLINICAL SIGNIFICANCE 
      • TIER 2 – VARIANTS OF POTENTIAL CLINICAL SIGNIFICANCE
      • TIER 3A –VARIANTS OF UNCERTAIN CLINICAL SIGNIFICANCE
      • TIER 3B – VARIANTS OF UNCERTAIN FUNCTION  
      • TIER 4 – BENIGN AND LIKELY BENIGN VARIANTS 

      With one extra category preferred, a combined Tier 1/2 to cover all variants with known clinical significance.

      • TIER 1/2 – VARIANTS OF STRONG OR POTENTIAL CLINICAL SIGNIFICANCE

      There is a request to put this list into LOINC to create an answer list. In the meantime, is there a way to include this set of Tiers as an answer list ?

            Unassigned Unassigned
            jpatterson James Patterson
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              Created:
              Updated:
              Resolved: