NHS North West Genomics
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NHS North West Genomics - Local Development build (v2.2.5) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

: Genomic Analysis and Interpretation

Draft as of 2026-11-05

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{
  "resourceType" : "ActorDefinition",
  "id" : "GenomicAnalysisAndInterpretation",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ActorDefinition GenomicAnalysisAndInterpretation</b></p><a name=\"GenomicAnalysisAndInterpretation\"> </a><a name=\"hcGenomicAnalysisAndInterpretation\"> </a><table class=\"grid\"><tr><td><b>Actor: GenomicAnalysisAndInterpretation </b></td><td>Genomic Analysis and Interpretation</td><td>Type: system </td></tr><tr><td colspan=\"3\"><div><p>Receives raw genomic data (e.g. sequence data or satellite LIMS results) produced by analysers, together with the work order and its case context (e.g. pedigree, phenotype, clinical indication and panels).\nProcesses the raw data into variants and prioritises them (bioinformatics pipeline).\nSupports interpretation, often with a clinical scientist involved, to select and classify the reportable variants.\nReturns the reportable variants and a summary interpretation (e.g. a genomic report) to the Order Filler.\nThis actor may later be split into a Bioinformatics Processor and an Interpretation / Decision Support actor.</p>\n</div></td></tr></table></div>"
  },
  "url" : "https://fhir.nwgenomics.nhs.uk/ActorDefinition/GenomicAnalysisAndInterpretation",
  "version" : "2.2.5",
  "name" : "GenomicAnalysisAndInterpretation",
  "title" : "Genomic Analysis and Interpretation",
  "status" : "draft",
  "date" : "2026-11-05T06:40:21+00:00",
  "publisher" : "NHS North West Genomics",
  "contact" : [
    {
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://www.nwgenomics.nhs.uk/contact-us"
        }
      ]
    }
  ],
  "description" : "Analyses and interprets raw genomic data. Implemented by bioinformatics pipelines and Decision Support Systems (DSS), e.g. Omics DSS, or the Genomics England bioinformatics pipeline, interpretation services and Interpretation Portal.",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "urn:iso:std:iso:3166",
          "code" : "GB",
          "display" : "United Kingdom of Great Britain and Northern Ireland"
        }
      ]
    }
  ],
  "type" : "system",
  "documentation" : "Receives raw genomic data (e.g. sequence data or satellite LIMS results) produced by analysers, together with the work order and its case context (e.g. pedigree, phenotype, clinical indication and panels).\nProcesses the raw data into variants and prioritises them (bioinformatics pipeline).\nSupports interpretation, often with a clinical scientist involved, to select and classify the reportable variants.\nReturns the reportable variants and a summary interpretation (e.g. a genomic report) to the Order Filler.\nThis actor may later be split into a Bioinformatics Processor and an Interpretation / Decision Support actor."
}