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  1. FHIR Specification Feedback
  2. FHIR-42850

Clean up guidance on star alleles

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    • Icon: Change Request Change Request
    • Resolution: Persuasive
    • Icon: Medium Medium
    • Genomics Reporting (FHIR)
    • 2.0.0
    • Clinical Genomics
    • Genotype
    • (many)
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      Apply the proposed changes:

      1. Move guidance on use of text and/or code systems for haplotype name and genotype name to their corresponding profile pages rather than leave them on "Reporting Overview".
      2. Add note that although some clinical use cases currently rely on star-alleles, sending star-alleles without variant-level information is not best practice as it is both potentially ambiguous and can preclude future utility of the report.
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      Apply the proposed changes: Move guidance on use of text and/or code systems for haplotype name and genotype name to their corresponding profile pages rather than leave them on "Reporting Overview". Add note that although some clinical use cases currently rely on star-alleles, sending star-alleles without variant-level information is not best practice as it is both potentially ambiguous and can preclude future utility of the report.
    • May Terry/Srikar Chamala : 11 - 0 - 0
    • Clarification
    • Non-substantive

    Description

      We currently introduce a grammar to link together star alleles with an HGNC gene symbol, whitespace, and then a slash-delimited list of haplotype codes. Usage of this grammar is remarkably low even within our IG and star alleles are too common to not address more clearly.

      We identified a couple easy areas for improvement:

      1. It would be preferable to move guidance on use of text and/or code systems for haplotype name and genotype name to their corresponding profile pages rather than leave them on "Reporting Overview".
      2. It may be helpful to note that although some clinical use cases currently rely on star-alleles, sending star-alleles without variant-level information is not best practice as it is both potentially ambiguous and can preclude future utility of the report.

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            Unassigned Unassigned
            james.jones James Jones
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              Updated:
              Resolved: