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  1. FHIR Specification Feedback
  2. FHIR-32716

Discrete variant details should be included whereever possible

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    • Icon: Change Request Change Request
    • Resolution: Persuasive
    • Icon: Highest Highest
    • Genomics Reporting (FHIR)
    • 1.0.0
    • Clinical Genomics
    • (many)
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      On PGx page: http://www.hl7.org/fhir/uv/genomics-reporting/2021May/pharmacogenomics.html

      Current wording:

      In the example used in this User Guide, the PGx results are based on diplotypes (star alleles), found in each relevant PGx gene that is covered by the PGx gene panel.

      New wording:

      In the example used in this User Guide, the PGx results are based on diplotypes (star alleles), and the underlying variant observations, found in each relevant PGx gene that is covered by the PGx gene panel.

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      On PGx page: http://www.hl7.org/fhir/uv/genomics-reporting/2021May/pharmacogenomics.html Current wording: In the example used in this User Guide, the PGx results are based on diplotypes (star alleles), found in each relevant PGx gene that is covered by the PGx gene panel. New wording: In the example used in this User Guide, the PGx results are based on diplotypes (star alleles), and the underlying variant observations, found in each relevant PGx gene that is covered by the PGx gene panel.
    • Mullai M / Jamie J : 11-0-0
    • Clarification
    • Non-substantive

    Description

      It has been the recommendation of the CG WG in the past that the full description of the underlying observed variants be included whereever possible. In the table the wording of the Genotype Example notes makes it sound like this recommendation is no longer being made. Section on Creating the Report: "In the example used in this User Guide, the PGx results are based on diplotypes (star alleles), found in each relevant PGx gene that is covered by the PGx gene panel. " Suggest modifying to be consistent with the recommendation that variant details be present in reports. Such as '...results are based on diplotypes (star alleles), and the underyling variant observations, found in each....' It would be a small change but keep consistent with a recommendation that descrete variant details be included whenever possible.

      (Comment 56 - imported by: Kevin Power)

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            bheale Bret Heale
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