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  1. FHIR Specification Feedback
  2. FHIR-32093

Recommend using multiple implications rather than allowing multiple component responses within an implication.

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    • Icon: Change Request Change Request
    • Resolution: Persuasive with Modification
    • Icon: Medium Medium
    • Genomics Reporting (FHIR)
    • 1.1.0 [deprecated]
    • Clinical Genomics
    • Diagnostic Implication
      Therapeutic Implication
    • General Genomic Reporting
    • 1.2.6
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      • Persuasive with mod
      • Add to both the diagnosticImplication and therapeuticImplication pages, a section 'Differentiating AND vs OR':
      • There are several cases where it is necessary to differentiate 'AND' conditions (e.g. both drug X AND drug Y, in combination, are indicated in the presence of a variant) vs. 'OR' conditions (e.g. either drug X OR drug Y are indicated in the presence of a variant). 
      • This situation is not unique to genomic implications, and arises elsewhere within FHIR (e.g. FHIR Search) and outside of FHIR (e.g. Clinvar submission API, condition set). To be consistent with other precedents:

      Where Diagnostic and Therapeutic implications have fields with cardinality >1, the inclusion of multiple values within a field shall indicate an 'AND' condition. An 'OR' condition is represented by multiple observation instances.

      • Implication fields affected by this guidance include: 
      • Therapeutic implications: derivedFrom, evidence-level, phenotypic-treatment-context, medication-assessed, therapy-assessed, predicted-therapeutic-implication.
      • Diagnostic implications: derivedFrom, evidence-level, predicted-phenotype, functional-effect.
      • For example, assume Variant X is pathogenic for Disease Y AND Disease Z in combination. This would be a single diagnostic implication, where predicted-phenotype is a list containing both Disease Y and Disease Z. If on the other hand, Variant X might be pathogenic for Disease Y alone, or Disease Z alone, this would be two diagnostic implications, one containing a predicted-phenotype of Disease Y, and the other containing a predicted-phenotype of Disease Z.
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      Persuasive with mod Add to both the diagnosticImplication and therapeuticImplication pages, a section 'Differentiating AND vs OR': There are several cases where it is necessary to differentiate 'AND' conditions (e.g. both drug X AND drug Y, in combination, are indicated in the presence of a variant) vs. 'OR' conditions (e.g. either drug X OR drug Y are indicated in the presence of a variant).  This situation is not unique to genomic implications, and arises elsewhere within FHIR (e.g. FHIR Search ) and outside of FHIR (e.g. Clinvar submission API , condition set). To be consistent with other precedents: Where Diagnostic and Therapeutic implications have fields with cardinality >1, the inclusion of multiple values within a field shall indicate an 'AND' condition. An 'OR' condition is represented by multiple observation instances . Implication fields affected by this guidance include:  Therapeutic implications: derivedFrom, evidence-level, phenotypic-treatment-context, medication-assessed, therapy-assessed, predicted-therapeutic-implication. Diagnostic implications: derivedFrom, evidence-level, predicted-phenotype, functional-effect. For example, assume Variant X is pathogenic for Disease Y AND Disease Z in combination. This would be a single diagnostic implication, where predicted-phenotype is a list containing both Disease Y and Disease Z. If on the other hand, Variant X might be pathogenic for Disease Y alone, or Disease Z alone, this would be two diagnostic implications, one containing a predicted-phenotype of Disease Y, and the other containing a predicted-phenotype of Disease Z.
    • Arthur Herman / Bret Heale : 14-0-0
    • Clarification
    • Non-substantive

    Description

      We should update the implications structure (Genomic Implications, Therapeutic Implications, and Diagnostic Implications alike) so that many Implications can be derived from Genomic Findings, but many components within the Implication should not be 0..* cardinality (like they are now).

      For example, today it looks like the correct way to result multiple phenotypes associated with a variant would be to have a single implication with multiple associated phenotypes. However, this doesn't allow different phenotypes to have individual Clinical Significance values. Instead, each implication should have a single associated phenotype and clinical significance value, but there should be able to be multiple implications associated with that variant result. 

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            rkutner Rachel Kutner (Inactive)
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              Updated:
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