2015May core #1453 - Concerns for Standard Genetic Profile on Observation

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    • Type: Change Request
    • Resolution: Not Persuasive
    • Priority: Medium
    • FHIR Core (FHIR)
    • DSTU1 [deprecated]
    • Clinical Genomics
    • Observation
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      1. The loinc code to "gene identifer" is tied to HGNC as it is an international concept but other systems can also be added by using local extension.

      2. Users can assemble a set of attributes they need for individual observations.

      3. Fusion gene such as BCR-ABL (Gene ID: 100286332) can be reported by the local extension of gene identifier.

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      1. The loinc code to "gene identifer" is tied to HGNC as it is an international concept but other systems can also be added by using local extension. 2. Users can assemble a set of attributes they need for individual observations. 3. Fusion gene such as BCR-ABL (Gene ID: 100286332) can be reported by the local extension of gene identifier.
    • Gil Alterovitz/Grant Wood: 5-1-3
    • Clarification

      Comment:

      Concerns for Standard Genetic Profile on Observation: - why did you restrict GeneID to HGNC instead of offering alternative terminology choices such as EntrezGene? EntrezGene IDs are commonplace in clinical genomic reporting contexts - There seems to be a large list of attributes but no guidance on which of these should be assembled together for individual Observations. Have you considered using the FHIR Slicing capability to define ways in which these attributes should be assembled - Consider expanding use cases significantly, for example how would you report a fusion gene such as BCR-ABL?

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