LOINC codes for overall mutation analysis etc. - 2016-09 core #471

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    • Type: Change Request
    • Resolution: Not Persuasive
    • Priority: Medium
    • FHIR Core (FHIR)
    • DSTU2
    • Clinical Genomics
    • (profiles)
    • 10.1.13.3
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      Not Persuasive – explain concept

      Observation.component element will be used for knowledge-based interpretations of the sequence variant.

      Relative variants in sequence will be linked by observation.relate or Observationgenetics extension

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      Not Persuasive – explain concept Observation.component element will be used for knowledge-based interpretations of the sequence variant. Relative variants in sequence will be linked by observation.relate or Observationgenetics extension
    • David Kreda/Clem McDownload: 25-0-2
    • Clarification

      Existing Wording: Extension - geneticsInterpretation points to an Observation entity. In this Observation entity, Observation.component is used for recording clinical interpretations for variation.

      Here is a LOINC panel that could be supported by Observation.component: ....

      In addition, in this Observation entity, Observation.related is used to link itself with Observation-genetics profile. Observation.related.type is 'derived-from' as it provides clinical interpretation for variation recoreded in Observation-genetics entity.

      Comment:

      This section lists in its table a series of LOINC codes that apply to an overall Mutation analysis (which might include a big sequencing study), and for example it includes a LOINC code that can carry the overall report. It also includes things that are goals or targets of the study (e.g. drugs, or disease of interest), NOT outcomes or interpretations. So these would be in a container that dealt with all of the variants found and presumably reported in the Sequence Resource. Dont know how it will really connect to the sequence unless it was the parent and connected to a bunch of sequence entities. (Below the table, it does say ("Observation.related is used to link itself with Observation-genetics profile"). Think it needs more clarity and some re-thinking.

      Summary:

      LOINC codes for overall mutation analysis etc.

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