Need to address "what was looked at"

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    • Type: Change Request
    • Resolution: Persuasive
    • Priority: Medium
    • Genomics Reporting (FHIR)
    • STU3
    • Clinical Genomics
    • STU
    • (profiles) [deprecated]
    • Hide

      Persuasive

      1. Create a new Observation profile, 'region-studied', hanging off GeneticsDiagnosticReport. [0..*]

      2. The definition for new profile: "The region-studied profile is used to assert actual regions studied for the performed test(s). Intended coverage areas may differ from actual coverage areas (e.g. due to technical limitations during test performance)."


      3. valueCodeableConcept (LOINC TBD) - Result value to indicate if anything was found. A simple statement of "Was something found" (Positive, Negative, Unknown)

      4. Components
      component (gene studied) 48018-6 [0..*] (HGNC symbol or NCBI gene code)
      component (gene mutations tested for) 36908-2 [0..*] (coded, preferable HGVS)
      component (description of ranges of DNA sequences examined) 81293-3 [0..1] (narrative)
      component (region scope) TBD [0..1] (Whole Genome | Whole Exome | Gene Panel | Specific Variants)
      component (gene coverage) TBD [0..1] numeric (when sequencing, what % of the gene was sequenced)

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      Persuasive 1. Create a new Observation profile, 'region-studied', hanging off GeneticsDiagnosticReport. [0..*] 2. The definition for new profile: "The region-studied profile is used to assert actual regions studied for the performed test(s). Intended coverage areas may differ from actual coverage areas (e.g. due to technical limitations during test performance)." 3. valueCodeableConcept (LOINC TBD) - Result value to indicate if anything was found. A simple statement of "Was something found" (Positive, Negative, Unknown) 4. Components component (gene studied) 48018-6 [0..*] (HGNC symbol or NCBI gene code) component (gene mutations tested for) 36908-2 [0..*] (coded, preferable HGVS) component (description of ranges of DNA sequences examined) 81293-3 [0..1] (narrative) component (region scope) TBD [0..1] (Whole Genome | Whole Exome | Gene Panel | Specific Variants) component (gene coverage) TBD [0..1] numeric (when sequencing, what % of the gene was sequenced)
    • Bob Dolin / Gideon Giacomelli: 13-0-4
    • Correction
    • Compatible, substantive

      Need to address "what was looked at" before finalizing the IG.

            Assignee:
            Unassigned
            Reporter:
            Bob Dolin
            Watchers:
            1 Start watching this issue

              Created:
              Updated:
              Resolved: