North West Genomics Testing Workflow (GTW)
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DRAFT Implementation Guide

This is for collaboration and discussion purposes and is subject to change.

North West Genomics Testing Workflow (GTW) - Local Development build (v0.0.1) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Genomics Data Models

The intent is to follow the data model (FHIR profiles, valuesets and codesystems) contained in NHS England FHIR Genomics Implementation Guide

Genomic Test Request Entity Model

References

Model

Genomic Test RequestMessage - Laboratory Order O21Template/Order FormSupporting Information«aggregate»FHIR Bundle (messaage)identifierMessageHeaderfocusPatientNHSNumberMedicalRecordNumberEncounterencounterepisodesubject : Patient«aggregate»RequestGroupidentifierServiceRequestsubject : Patient«aggregate»ServiceRequest (Test Request)orderPlacerNumberaccessionNumbersubject : PatientSpecimen (Primary Sample)identifieraccessionNumbersubject : PatientConditionPractitionerRoleorganisation : ODSCodepractitiner: GMP/GMC Numberspecialty: ClinicalSpecialtyDiagnosticReport(Relevant Clinical Report andPrevious Genomic Report)identifierbasedOn:accessionNumberObservationvalue[x]codesubject : PatientObservation Panelhasmembercodesubject : PatientDocumentReferenceGenomicFamilyStructuretypesubject : PatientAttachmenthasmember01focus1focus1action.resourcespecimen /accessionNumber0subject1encounter0reason(Reference/Code)0supportingInfo0supportingInfo0supportingInfo0supportingInfo0requester1collection.collector0participant.individual§0

Genomics Test Request Model


A detailed description of this archetype which includes mappings to HL7 FHIR can be found NW-Genomics-Test-Order. This is also a minimal dataset based on NHS Genomics MDM

This also includes messaging concepts which are described in this guide to add compatibility with HL7 v2 and IHE LTW.

Genomic Test Report Entity Model

References

Genomic Test ReportMessage - Unsolicited Observation R01CompositionDiagnosticReportFHIR Bundle (message)identifierMessageHeaderfocusPatient(PatientorFetus)NHSNumberMedicalRecordNumberEncounterencounterepisode«aggregate»ServiceRequest (Test Request)accessionNumberSpecimen (Primary Sample)identifieraccessionNumberObservationObservation PanelhasmemberRelatedPerson«aggregate»DiagnosticReportidentifierbasedOn:accessionNumberAttachmenthasmember01focus*0accessionNumber*subject1encounter0results*results0presentedForm*To link Mother and Fetus

Genomics Test Report Model


Identities and Codes

Both models have a very strong focus on the use of Correlation Identifier (Enterprise Integration Patterns) or Rule 3: Reference Other Aggregates by Identity (Implementing Domain Driven Design), which is also consistent with IHE/HL7 concepts of Bounded Context (martinfowler.com)

In practice this means, the following FHIR resources will have the following identifiers within the IHE Laboratory Testing Workflow domain:

This includes making use of FHIR Identifier assigner.identifier.value (HL7 v2 Assigning Facility in a variety of ID types) to distinguish these identifiers between different organisations, the recommendation is to use ODS Code, e.g.

    {
      "type" : {
        "coding" : [
          {
            "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
            "code" : "ACSN"
          }
        ]
      },
      "value" : "1001166717",
      "assigner" : {
        "identifier" : {
          "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
          "value" : "699X0"
        }
      }
    }

References to other domains

Is present around Organisation, Practioner and PractitionerRole. NHS England has expressed a preference to use NHS England Identifiers, these are:

Codes or Resources

This is for discussion, this applies to FHIR resources identified as not being entities (and the use of identifier is not mandatory). These include:

  • Observation
  • Condition

In FHIR the codes for these will be CodeableConcept (HL7 v2 CE Data Types). It is excepted NHS England will

  • express a preference towards SNOMED CT
  • use FHIR Resources to represent these.

The use of FHIR resources for data which is currently HL7 v2 CE Data Type may need to be questioned. For example mapping of HL7 v2 ORC-16 is to ServiceRequest.requestCode according to ServiceRquest - HL7 v2 Mapping, this is a v2 CE to FHIR CodeableConcept conversion. Curently this is stated as an implied ServiceRequest.requestReference mapping (ISSUE link: NHS England Developer Community Genomics Order Management Service - FHIR ServiceRequest reason)