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  1. FHIR Specification Feedback
  2. FHIR-41610

Consistently representing pertinent negatives

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    • Icon: Change Request Change Request
    • Resolution: Persuasive
    • Icon: Medium Medium
    • Genomics Reporting (FHIR)
    • 2.0.0
    • Clinical Genomics
    • Variant
    • Variant Reporting
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      Add lightweight guidance that Variant.value = absent implies the lab considers this to be a pertinent negative to include on the report, and provide guidance for the other values (No Call, Indeterminate)
      This guidance should be added to "variant reporting" and to the Variant profile page on the value[x] element.
      Define/explain the AL concepts used on value[x].

      Note - This resolution will not include guidance on any pattern to allow negatives to be inferred. If needed in the future, new Jira should be logged.

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      Add lightweight guidance that Variant.value = absent implies the lab considers this to be a pertinent negative to include on the report, and provide guidance for the other values (No Call, Indeterminate) This guidance should be added to "variant reporting" and to the Variant profile page on the value [x] element. Define/explain the AL concepts used on value [x] . Note - This resolution will not include guidance on any pattern to allow negatives to be inferred. If needed in the future, new Jira should be logged.
    • Bob F / Rob R : 6 - 0 - 0
    • Clarification
    • Non-substantive

    Description

      Our Variant.valueCodeableConcept is bound to a value set with 'Absent' as a value, but we should build guidance to help implementers do this consistently.

      It should also cover situations where the 'No call' or 'Indeterminate' should be used - for example: low coverage of an important region but data producer would like to call out a specific variant that will be expected by data consumers was not determined (and how this works with Region Studied profile).

       

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            cerkyp Kevin Power
            cerkyp Kevin Power
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              Updated:
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