2015May core #258 - Genetics seems unfinished

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    • Type: Change Request
    • Resolution: Persuasive
    • Priority: Medium
    • FHIR Core (FHIR)
    • DSTU1 [deprecated]
    • Clinical Genomics
    • Observation
    • 4.20.20
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      The introduction of components makes genetics profile support various current genetic reports without sequence information. We also add one extension - Result to support genetic report with a list of gene mutations or variants where the Observation.component can be used for the interpretation of gene mutations (See Example 3 linked in introduction web page). New attributes - AllelicFrequency, CopyNumberEvent, ReadCoverage are added.

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      The introduction of components makes genetics profile support various current genetic reports without sequence information. We also add one extension - Result to support genetic report with a list of gene mutations or variants where the Observation.component can be used for the interpretation of gene mutations (See Example 3 linked in introduction web page). New attributes - AllelicFrequency, CopyNumberEvent, ReadCoverage are added.
    • Gil Alterovitz/Grant Wood: 5-1-3
    • Clarification
    • Non-substantive
    • DSTU1 [deprecated]

      Comment:

      this seems unfinished. is it part of the ballot

      The general direction is good for a specialized genomic report

      There is no cardinality

      Many of the variables can/should be conceived as coding systems then don't need prefixes to specify which on (e.g. cosmic) and the system fits the rest of the world

      This does not well accommodate many kinds of current genetic reports - e.g. maternal cell free DNA for prenatal testing, or stool for risk of cancer, nor prob based tests that tend to list the genes tested for and the genes fond

            Assignee:
            Unassigned
            Reporter:
            clemmcdonald
            clemmcdonald
            Watchers:
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              Created:
              Updated:
              Resolved: