North West Genomic Medicine Service Alliance
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North West Genomic Medicine Service Alliance - Local Development build (v0.0.7) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Questionnaire: North West Genomics Test Report

Official URL: https://nw-gmsa.github.io/Questionnaire/GenomicTestReport Version: 0.0.7
Draft as of 2025-08-20 Computable Name:

The aim of this is to support conversion of Genomic Report (HL7 v2 ORU) for use by several NHS Trusts (as HL7 v2 or FHIR).

References

Domain Archetype

Phase 1 PDF Report

Genomic Laboratory ReportGenomic ReportSubjectPatientAuthorPractitionerValidatorPractitionerLegal AuthenticatorPractitionerCustodianOrganizationSectionsInformation Recipient (section)Order (59772-4 section)ServiceRequestSpecimen (59773-2 section)SpecimenNarrative (29554-3 section)DiagnosticReportAttachment(report in PDF format)DocumentReferenceAttachment(report in PDF format)Finding (59776-5 section)ObservationVariantObservationHalotypeObservationGenotypeObservationSequence Phase RelationshipImplication (59768-2 section)ObservationDiagnostic ImplicationObservationTherapeutic ImplicationObservationMolecular ConsequenceObservationGenomic AnnotationRecommended Actions (46209-3 section)TaskFollowup RecommendationTaskMedication Recommendation

Laboratory Report - Map


Entity Cardinality HL7 v2 ORU_RO1 Message HL7 FHIR DiagnosticReport HL7 FHIR Resource (RESTful)
Patient 1..1 PID subject ​Patient
Episode/Visit/Stay Number 0..1 PV1 PV1-19 HospitalProviderSpellIdentifier Encounter
Order Number 1..1 ORC ORC-3 ​basedOn Filler Order Number ServiceRequest
Genomic Test Code 1..1 OBR OBR-4 ​code Genomic Test Directory  
Report date 1..1 OBR OBR-7 effectiveDateTime  
Results Interpreter 0..* OBR OBR-32 and OBR-33 resultsInterpreter England Practitioner Identifier Practitioner
Performer (operator) 1..* OBR OBR-34 performer[operator] England Practitioner Identifier Practitioner
Performer (organisation) 1..*   performer[organisation] Organisation Code ​Organizaton
presentedForm 1..1 OBX (type=ED presentedForm Attachment DocumentReference and Binary
Specimen 0..* SPM specimen Specimen

Phase 2 Structured Report

TODO - This will include a modernisation to core FHIR concepts such as FHIR Workflow, FHIR Subscription and FHIR RESTful.

LinkIDTextCardinalityTypeDescription & Constraintsdoco
.. The aim of this is to support conversion of Genomic Report (HL7 v2 ORU) for use by several NHS Trusts (as HL7 v2 or FHIR).Questionnairehttps://nw-gmsa.github.io/Questionnaire/GenomicTestReport#0.0.7
... PatientPatient0..1groupDefinition: Patient
.... LN/45394-4Patient surname1..1stringDefinition: Patient.name.family
.... LN/45392-8Patient first name1..1stringDefinition: Patient.name.given
.... LN/21112-8Date of birth1..1dateDefinition: Patient.birthDate
.... LN/81954-0Date of death0..1date​Definition: Patient.deceasedDateTime
.... LN/56799-0Address0..1groupDefinition: Patient.address
..... HL7/PID-11-1Address Line0..*string​Definition: Patient.address.line
..... HL7/PID-11-3City0..1string​Definition: Patient.address.city
..... LN/45401-7Postcode0..1stringDefinition: Patient.address.postalCode
.... LN/46098-0Sex registered at birth0..1choiceDefinition: Patient.gender
Value Set: AdministrativeGender
.... LN/32624-9Ethnic Category0..1choice​Definition: Patient.extension:ethnicCategory
Value Set: Ethnicity
.... LN/89061-6NHS Number0..1string​Definition: Patient.identifier:nhsNumber
.... LN/76435-7Hospital Number (Medical Record Number)1..1string​Definition: Patient.identifier:MedicalRecordNumber
.... LN/56797-4Account Number (Episode or Stay Number)0..1string​Definition: ServiceRequest.encounter.identifier.value
..... LN/56797-4-designNotePV1-19 (also known as stay number)0..1display
.... HL7/PD1-3GP Surgery (ODS Code)0..1choice​Definition: Patient.generalPractitioner

doco Documentation for this format