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  1. FHIR Specification Feedback
  2. FHIR-16175

Genetic Impact - Add ACMG reference for level of evidence

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    • Icon: Change Request Change Request
    • Resolution: Persuasive
    • Icon: Medium Medium
    • Genomics Reporting (FHIR)
    • Clinical Genomics
    • Genomic Implication
    • 1.2.5
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       Persuasive

      • Change cardinality of Genomic Implication (and therefore also therapeuticImplication.evidence-level and diagnosticImplication.evidence-level) from 0..1 to 0..*
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       Persuasive Change cardinality of Genomic Implication (and therefore also therapeuticImplication.evidence-level and diagnosticImplication.evidence-level) from 0..1 to 0..*
    • Arthur Herman / Bret Heale : 14-0-0
    • Enhancement
    • Compatible, substantive

    Description

      Can we support the ACMG "Criteria for classifying pathogenic/benign variants"? See here: https://www.acmg.net/docs/standards_guidelines_for_the_interpretation_of_sequence_variants.pdf (page 8-9).

      My sense is that there can be multiple categories associated with a variant, and I am not sure we can support that as our profiles are structured today?

      We should also consider how we could allow the specific category (PS1, PM2, etc..) to be sent as well as the Evidence (Strong, Moderate, etc ...)

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            Unassigned Unassigned
            cerkyp Kevin Power
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              Updated:
              Resolved: