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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<ActorDefinition xmlns="http://hl7.org/fhir">
  <id value="GenomicAnalysisAndInterpretation"/>
  <text>
    <status value="generated"/>
    <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).
Processes the raw data into variants and prioritises them (bioinformatics pipeline).
Supports interpretation, often with a clinical scientist involved, to select and classify the reportable variants.
Returns the reportable variants and a summary interpretation (e.g. a genomic report) to the Order Filler.
This actor may later be split into a Bioinformatics Processor and an Interpretation / Decision Support actor.</p>
</div></td></tr></table></div>
  </text>
  <url
       value="https://fhir.nwgenomics.nhs.uk/ActorDefinition/GenomicAnalysisAndInterpretation"/>
  <version value="2.2.5"/>
  <name value="GenomicAnalysisAndInterpretation"/>
  <title value="Genomic Analysis and Interpretation"/>
  <status value="draft"/>
  <date value="2026-11-05T06:40:21+00:00"/>
  <publisher value="NHS North West Genomics"/>
  <contact>
    <telecom>
      <system value="url"/>
      <value value="https://www.nwgenomics.nhs.uk/contact-us"/>
    </telecom>
  </contact>
  <description
               value="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 value="urn:iso:std:iso:3166"/>
      <code value="GB"/>
      <display value="United Kingdom of Great Britain and Northern Ireland"/>
    </coding>
  </jurisdiction>
  <type value="system"/>
  <documentation
                 value="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).
Processes the raw data into variants and prioritises them (bioinformatics pipeline).
Supports interpretation, often with a clinical scientist involved, to select and classify the reportable variants.
Returns the reportable variants and a summary interpretation (e.g. a genomic report) to the Order Filler.
This actor may later be split into a Bioinformatics Processor and an Interpretation / Decision Support actor."/>
</ActorDefinition>