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

Logical Model: Genetic Clinical Referral

Official URL: https://fhir.nwgenomics.nhs.uk/StructureDefinition/GeneticClinicalReferral Version: 2.2.5
Draft as of 2026-11-05 Computable Name: GeneticClinicalReferralModel

For analysis purposes only - not an active or planned project. This referral is not expected to be implemented within this IG; it is expected to be implemented via a Genomics England Limited application, NHS England BaRS/eRS or the NHS England Genomic Order Management Service.

A closed-loop clinical referral into a genomics/clinical genetics service (see Genetic Referrals), modelled on the IHE 360X HL7 v2 referral order OMG^O19 with OSU^O51 status updates (see Referral Request [PCC-55]) - not a laboratory order. The referral itself stays small: clinical content travels as forms, clinical documents (pathology report, patient summary) and family history referenced from the referral.

This is a logical model - it is not exchanged as is. It breaks down into ServiceRequest, Patient, PractitionerRole, Organization, HealthcareService, QuestionnaireResponse, RelatedPerson, Observation and clinical documents (DocumentReference or a FHIR Document Bundle).

This logical model describes a closed-loop clinical referral into a genomics/clinical genetics service - the narrative use case is Genetic Referrals. The HL7 v2 messages it is modelled on are the IHE 360X referral order OMG^O19 and order status update OSU^O51 - see Referral Request [PCC-55], Referral Decline [PCC-56] and Referral Outcome [PCC-57], all for future use. Earlier drafts used REF_I12 (Patient Referral) - see Genetic Referrals for that mapping.

The referral itself stays small. Clinical content travels as forms (QuestionnaireResponse), clinical documents - the pathology report and the patient summary - and family history (structured, or the family letter), referenced from the referral, not copied into it.

It is deliberately built the same way as Genomic Test Order and Genomic Test Report. Where a data item is genuinely the same one Genomic Test Order already captures (e.g. patient demographics, both populating HL7 v2 PID), this model reuses the same element rather than re-defining it, per the "check for existing patterns" principle in How To Engineer (scale and deliver) Interoperability.

It is not a FHIR profile and is not exchanged as is - see From Logical Model to Implementation Model below, and the Mappings tab for where each element goes in HL7 v2 OMG^O19/OSU^O51, in this IG's FHIR profiles, and in the Genetic Clinical Referral Questionnaire.

References

Usages:

  • This Logical Model is not used by any profiles in this Specification

You can also check for usages in the FHIR IG Statistics

Formal Views of Profile Content

Description Differentials, Snapshots, and other representations.

This structure is derived from Base

NameFlagsCard.TypeDescription & Constraints    Filter: doco
GeneticClinicalReferral 0..* Base Genetic Clinical Referral
Instances of this type can be the target of a Reference
GeneticClinicalReferral.referralIdentifier 1..1 OrderIdentifier Referral Identifier
GeneticClinicalReferral.status 1..1 code Referral Status
Binding: RequestStatus (required)
GeneticClinicalReferral.priority 0..1 code Priority
Binding: Request Priority (required)
GeneticClinicalReferral.dateOfReferral 0..1 dateTime Date of referral
GeneticClinicalReferral.patient 1..1 BackboneElement Patient
GeneticClinicalReferral.patient.nhsNumber 0..1 NHSIdentifier NHS Number
GeneticClinicalReferral.patient.medicalRecordNumber 0..1 MedicalRecordNumber Hospital Number (Medical Record Number)
GeneticClinicalReferral.patient.familyName 1..1 string Patient surname
GeneticClinicalReferral.patient.givenName 1..1 string Patient first name
GeneticClinicalReferral.patient.birthDate 1..1 date Date of birth
GeneticClinicalReferral.patient.address 0..1 Address Address
GeneticClinicalReferral.patient.sexRegisteredAtBirth 0..1 code Sex registered at birth
Binding: AdministrativeGender (required)
GeneticClinicalReferral.patient.accountNumber 0..1 HospitalProviderSpellIdentifier Account Number (Episode or Stay Number)
GeneticClinicalReferral.patient.pedigreeNumber 0..1 string G Number (Pedigree Number)
GeneticClinicalReferral.referrer 1..1 BackboneElement Referring Provider
GeneticClinicalReferral.referrer.name 1..1 string Referring Clinician Name
GeneticClinicalReferral.referrer.specialty 0..1 CodeableConcept Referring Clinician Current Speciality
Binding: UK Core Practice Setting Code (extensible)
GeneticClinicalReferral.referrer.professionalIdentifier 0..1 PractitionerIdentifier Referring Clinician Professional Identifier
GeneticClinicalReferral.referrer.email 0..* string Email
GeneticClinicalReferral.referrer.phone 0..1 string Phone
GeneticClinicalReferral.referrer.organisation 0..1 OrganisationCode Referring Organisation
GeneticClinicalReferral.recipient 0..1 BackboneElement Referred-to Provider/Service
GeneticClinicalReferral.recipient.service 0..1 string Referred-to Service/Clinic Name
GeneticClinicalReferral.recipient.organisation 0..1 OrganisationCode Referred-to Organisation
GeneticClinicalReferral.recipient.clinician 0..1 string Named Consultant/Clinician (if known)
GeneticClinicalReferral.serviceRequested 1..1 CodeableConcept Referral Type / Service Requested
Required Pattern: 
{
  "coding" : [
    {
      "system" : "http://snomed.info/sct",
      "code" : "306119003"
    }
  ]
}
GeneticClinicalReferral.reasonForReferral 0..* CodeableConcept Reason for referral
Binding: Genomic Clinical Indication Codes (extensible)
GeneticClinicalReferral.clinicalInformation 0..1 string Clinical details
GeneticClinicalReferral.forms 0..* Reference(QuestionnaireResponse) Referral forms
GeneticClinicalReferral.consultand 0..* Reference(RelatedPerson) Consultand
GeneticClinicalReferral.pathologyReport 0..* Reference(DocumentReference | Bundle) Pathology report
GeneticClinicalReferral.patientSummary 0..1 Reference(DocumentReference | Bundle) Patient summary
GeneticClinicalReferral.familyHistory 0..* Reference(FamilyMemberHistory | DocumentReference | Bundle) Family history

doco Documentation for this format

Terminology Bindings (Differential)

Path Status Usage ValueSet Version Source
GeneticClinicalReferral.​status Base required RequestStatus 📦4.0.1 FHIR Std.
GeneticClinicalReferral.​priority Base required Request Priority 📦2.2.5 This IG
GeneticClinicalReferral.​patient.sexRegisteredAtBirth Base required AdministrativeGender 📦4.0.1 FHIR Std.
GeneticClinicalReferral.​referrer.specialty Base extensible UK Core Practice Setting Code 📦1.0.0 fhir.r4.ukcore.stu3.currentbuild v0.29
GeneticClinicalReferral.​reasonForReferral Base extensible Genomic Clinical Indication Codes 📦2.2.5 This IG
NameFlagsCard.TypeDescription & Constraints    Filter: doco
GeneticClinicalReferral 0..* Base Genetic Clinical Referral
Instances of this type can be the target of a Reference
GeneticClinicalReferral.referralIdentifier 1..1 OrderIdentifier The snapshot does not say whether the constraints on the root of this type profile have been applied to this element, so assume they have not. Check the type profile directly as well Referral Identifier
GeneticClinicalReferral.status 1..1 code Referral Status
Binding: RequestStatus (required)
GeneticClinicalReferral.priority 0..1 code Priority
Binding: Request Priority (required)
GeneticClinicalReferral.dateOfReferral 0..1 dateTime Date of referral
GeneticClinicalReferral.patient 1..1 BackboneElement Patient
GeneticClinicalReferral.patient.@id 0..1 string Unique id for inter-element referencing
GeneticClinicalReferral.patient.extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
GeneticClinicalReferral.patient.modifierExtension This element is a modifier element. This element is included in summaries. 0..* Extension Extensions that cannot be ignored even if unrecognized
GeneticClinicalReferral.patient.nhsNumber 0..1 NHSIdentifier The snapshot does not say whether the constraints on the root of this type profile have been applied to this element, so assume they have not. Check the type profile directly as well NHS Number
GeneticClinicalReferral.patient.medicalRecordNumber 0..1 MedicalRecordNumber The snapshot does not say whether the constraints on the root of this type profile have been applied to this element, so assume they have not. Check the type profile directly as well Hospital Number (Medical Record Number)
GeneticClinicalReferral.patient.familyName 1..1 string Patient surname
GeneticClinicalReferral.patient.givenName 1..1 string Patient first name
GeneticClinicalReferral.patient.birthDate 1..1 date Date of birth
GeneticClinicalReferral.patient.address 0..1 Address Address
GeneticClinicalReferral.patient.sexRegisteredAtBirth 0..1 code Sex registered at birth
Binding: AdministrativeGender (required)
GeneticClinicalReferral.patient.accountNumber 0..1 HospitalProviderSpellIdentifier The snapshot does not say whether the constraints on the root of this type profile have been applied to this element, so assume they have not. Check the type profile directly as well Account Number (Episode or Stay Number)
GeneticClinicalReferral.patient.pedigreeNumber 0..1 string G Number (Pedigree Number)
GeneticClinicalReferral.referrer 1..1 BackboneElement Referring Provider
GeneticClinicalReferral.referrer.@id 0..1 string Unique id for inter-element referencing
GeneticClinicalReferral.referrer.extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
GeneticClinicalReferral.referrer.modifierExtension This element is a modifier element. This element is included in summaries. 0..* Extension Extensions that cannot be ignored even if unrecognized
GeneticClinicalReferral.referrer.name 1..1 string Referring Clinician Name
GeneticClinicalReferral.referrer.specialty 0..1 CodeableConcept Referring Clinician Current Speciality
Binding: UK Core Practice Setting Code (extensible)
GeneticClinicalReferral.referrer.professionalIdentifier 0..1 PractitionerIdentifier The snapshot does not say whether the constraints on the root of this type profile have been applied to this element, so assume they have not. Check the type profile directly as well Referring Clinician Professional Identifier
GeneticClinicalReferral.referrer.email 0..* string Email
GeneticClinicalReferral.referrer.phone 0..1 string Phone
GeneticClinicalReferral.referrer.organisation 0..1 OrganisationCode The snapshot does not say whether the constraints on the root of this type profile have been applied to this element, so assume they have not. Check the type profile directly as well Referring Organisation
GeneticClinicalReferral.recipient 0..1 BackboneElement Referred-to Provider/Service
GeneticClinicalReferral.recipient.@id 0..1 string Unique id for inter-element referencing
GeneticClinicalReferral.recipient.extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
GeneticClinicalReferral.recipient.modifierExtension This element is a modifier element. This element is included in summaries. 0..* Extension Extensions that cannot be ignored even if unrecognized
GeneticClinicalReferral.recipient.service 0..1 string Referred-to Service/Clinic Name
GeneticClinicalReferral.recipient.organisation 0..1 OrganisationCode The snapshot does not say whether the constraints on the root of this type profile have been applied to this element, so assume they have not. Check the type profile directly as well Referred-to Organisation
GeneticClinicalReferral.recipient.clinician 0..1 string Named Consultant/Clinician (if known)
GeneticClinicalReferral.serviceRequested 1..1 CodeableConcept Referral Type / Service Requested
Required Pattern: 
{
  "coding" : [
    {
      "system" : "http://snomed.info/sct",
      "code" : "306119003"
    }
  ]
}
GeneticClinicalReferral.reasonForReferral 0..* CodeableConcept Reason for referral
Binding: Genomic Clinical Indication Codes (extensible)
GeneticClinicalReferral.clinicalInformation 0..1 string Clinical details
GeneticClinicalReferral.forms 0..* Reference(QuestionnaireResponse) Referral forms
GeneticClinicalReferral.consultand 0..* Reference(RelatedPerson) Consultand
GeneticClinicalReferral.pathologyReport 0..* Reference(DocumentReference | Bundle) Pathology report
GeneticClinicalReferral.patientSummary 0..1 Reference(DocumentReference | Bundle) Patient summary
GeneticClinicalReferral.familyHistory 0..* Reference(FamilyMemberHistory | DocumentReference | Bundle) Family history

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
GeneticClinicalReferral.​status Base required RequestStatus 📦4.0.1 FHIR Std.
GeneticClinicalReferral.​priority Base required Request Priority 📦2.2.5 This IG
GeneticClinicalReferral.​patient.sexRegisteredAtBirth Base required AdministrativeGender 📦4.0.1 FHIR Std.
GeneticClinicalReferral.​referrer.specialty Base extensible UK Core Practice Setting Code 📦1.0.0 fhir.r4.ukcore.stu3.currentbuild v0.29
GeneticClinicalReferral.​reasonForReferral Base extensible Genomic Clinical Indication Codes 📦2.2.5 This IG

Constraints

Id Grade Path(s) Description Expression

Differential View

This structure is derived from Base

NameFlagsCard.TypeDescription & Constraints    Filter: doco
GeneticClinicalReferral 0..* Base Genetic Clinical Referral
Instances of this type can be the target of a Reference
GeneticClinicalReferral.referralIdentifier 1..1 OrderIdentifier Referral Identifier
GeneticClinicalReferral.status 1..1 code Referral Status
Binding: RequestStatus (required)
GeneticClinicalReferral.priority 0..1 code Priority
Binding: Request Priority (required)
GeneticClinicalReferral.dateOfReferral 0..1 dateTime Date of referral
GeneticClinicalReferral.patient 1..1 BackboneElement Patient
GeneticClinicalReferral.patient.nhsNumber 0..1 NHSIdentifier NHS Number
GeneticClinicalReferral.patient.medicalRecordNumber 0..1 MedicalRecordNumber Hospital Number (Medical Record Number)
GeneticClinicalReferral.patient.familyName 1..1 string Patient surname
GeneticClinicalReferral.patient.givenName 1..1 string Patient first name
GeneticClinicalReferral.patient.birthDate 1..1 date Date of birth
GeneticClinicalReferral.patient.address 0..1 Address Address
GeneticClinicalReferral.patient.sexRegisteredAtBirth 0..1 code Sex registered at birth
Binding: AdministrativeGender (required)
GeneticClinicalReferral.patient.accountNumber 0..1 HospitalProviderSpellIdentifier Account Number (Episode or Stay Number)
GeneticClinicalReferral.patient.pedigreeNumber 0..1 string G Number (Pedigree Number)
GeneticClinicalReferral.referrer 1..1 BackboneElement Referring Provider
GeneticClinicalReferral.referrer.name 1..1 string Referring Clinician Name
GeneticClinicalReferral.referrer.specialty 0..1 CodeableConcept Referring Clinician Current Speciality
Binding: UK Core Practice Setting Code (extensible)
GeneticClinicalReferral.referrer.professionalIdentifier 0..1 PractitionerIdentifier Referring Clinician Professional Identifier
GeneticClinicalReferral.referrer.email 0..* string Email
GeneticClinicalReferral.referrer.phone 0..1 string Phone
GeneticClinicalReferral.referrer.organisation 0..1 OrganisationCode Referring Organisation
GeneticClinicalReferral.recipient 0..1 BackboneElement Referred-to Provider/Service
GeneticClinicalReferral.recipient.service 0..1 string Referred-to Service/Clinic Name
GeneticClinicalReferral.recipient.organisation 0..1 OrganisationCode Referred-to Organisation
GeneticClinicalReferral.recipient.clinician 0..1 string Named Consultant/Clinician (if known)
GeneticClinicalReferral.serviceRequested 1..1 CodeableConcept Referral Type / Service Requested
Required Pattern: 
{
  "coding" : [
    {
      "system" : "http://snomed.info/sct",
      "code" : "306119003"
    }
  ]
}
GeneticClinicalReferral.reasonForReferral 0..* CodeableConcept Reason for referral
Binding: Genomic Clinical Indication Codes (extensible)
GeneticClinicalReferral.clinicalInformation 0..1 string Clinical details
GeneticClinicalReferral.forms 0..* Reference(QuestionnaireResponse) Referral forms
GeneticClinicalReferral.consultand 0..* Reference(RelatedPerson) Consultand
GeneticClinicalReferral.pathologyReport 0..* Reference(DocumentReference | Bundle) Pathology report
GeneticClinicalReferral.patientSummary 0..1 Reference(DocumentReference | Bundle) Patient summary
GeneticClinicalReferral.familyHistory 0..* Reference(FamilyMemberHistory | DocumentReference | Bundle) Family history

doco Documentation for this format

Terminology Bindings (Differential)

Path Status Usage ValueSet Version Source
GeneticClinicalReferral.​status Base required RequestStatus 📦4.0.1 FHIR Std.
GeneticClinicalReferral.​priority Base required Request Priority 📦2.2.5 This IG
GeneticClinicalReferral.​patient.sexRegisteredAtBirth Base required AdministrativeGender 📦4.0.1 FHIR Std.
GeneticClinicalReferral.​referrer.specialty Base extensible UK Core Practice Setting Code 📦1.0.0 fhir.r4.ukcore.stu3.currentbuild v0.29
GeneticClinicalReferral.​reasonForReferral Base extensible Genomic Clinical Indication Codes 📦2.2.5 This IG

Snapshot ViewView

NameFlagsCard.TypeDescription & Constraints    Filter: doco
GeneticClinicalReferral 0..* Base Genetic Clinical Referral
Instances of this type can be the target of a Reference
GeneticClinicalReferral.referralIdentifier 1..1 OrderIdentifier The snapshot does not say whether the constraints on the root of this type profile have been applied to this element, so assume they have not. Check the type profile directly as well Referral Identifier
GeneticClinicalReferral.status 1..1 code Referral Status
Binding: RequestStatus (required)
GeneticClinicalReferral.priority 0..1 code Priority
Binding: Request Priority (required)
GeneticClinicalReferral.dateOfReferral 0..1 dateTime Date of referral
GeneticClinicalReferral.patient 1..1 BackboneElement Patient
GeneticClinicalReferral.patient.@id 0..1 string Unique id for inter-element referencing
GeneticClinicalReferral.patient.extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
GeneticClinicalReferral.patient.modifierExtension This element is a modifier element. This element is included in summaries. 0..* Extension Extensions that cannot be ignored even if unrecognized
GeneticClinicalReferral.patient.nhsNumber 0..1 NHSIdentifier The snapshot does not say whether the constraints on the root of this type profile have been applied to this element, so assume they have not. Check the type profile directly as well NHS Number
GeneticClinicalReferral.patient.medicalRecordNumber 0..1 MedicalRecordNumber The snapshot does not say whether the constraints on the root of this type profile have been applied to this element, so assume they have not. Check the type profile directly as well Hospital Number (Medical Record Number)
GeneticClinicalReferral.patient.familyName 1..1 string Patient surname
GeneticClinicalReferral.patient.givenName 1..1 string Patient first name
GeneticClinicalReferral.patient.birthDate 1..1 date Date of birth
GeneticClinicalReferral.patient.address 0..1 Address Address
GeneticClinicalReferral.patient.sexRegisteredAtBirth 0..1 code Sex registered at birth
Binding: AdministrativeGender (required)
GeneticClinicalReferral.patient.accountNumber 0..1 HospitalProviderSpellIdentifier The snapshot does not say whether the constraints on the root of this type profile have been applied to this element, so assume they have not. Check the type profile directly as well Account Number (Episode or Stay Number)
GeneticClinicalReferral.patient.pedigreeNumber 0..1 string G Number (Pedigree Number)
GeneticClinicalReferral.referrer 1..1 BackboneElement Referring Provider
GeneticClinicalReferral.referrer.@id 0..1 string Unique id for inter-element referencing
GeneticClinicalReferral.referrer.extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
GeneticClinicalReferral.referrer.modifierExtension This element is a modifier element. This element is included in summaries. 0..* Extension Extensions that cannot be ignored even if unrecognized
GeneticClinicalReferral.referrer.name 1..1 string Referring Clinician Name
GeneticClinicalReferral.referrer.specialty 0..1 CodeableConcept Referring Clinician Current Speciality
Binding: UK Core Practice Setting Code (extensible)
GeneticClinicalReferral.referrer.professionalIdentifier 0..1 PractitionerIdentifier The snapshot does not say whether the constraints on the root of this type profile have been applied to this element, so assume they have not. Check the type profile directly as well Referring Clinician Professional Identifier
GeneticClinicalReferral.referrer.email 0..* string Email
GeneticClinicalReferral.referrer.phone 0..1 string Phone
GeneticClinicalReferral.referrer.organisation 0..1 OrganisationCode The snapshot does not say whether the constraints on the root of this type profile have been applied to this element, so assume they have not. Check the type profile directly as well Referring Organisation
GeneticClinicalReferral.recipient 0..1 BackboneElement Referred-to Provider/Service
GeneticClinicalReferral.recipient.@id 0..1 string Unique id for inter-element referencing
GeneticClinicalReferral.recipient.extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
GeneticClinicalReferral.recipient.modifierExtension This element is a modifier element. This element is included in summaries. 0..* Extension Extensions that cannot be ignored even if unrecognized
GeneticClinicalReferral.recipient.service 0..1 string Referred-to Service/Clinic Name
GeneticClinicalReferral.recipient.organisation 0..1 OrganisationCode The snapshot does not say whether the constraints on the root of this type profile have been applied to this element, so assume they have not. Check the type profile directly as well Referred-to Organisation
GeneticClinicalReferral.recipient.clinician 0..1 string Named Consultant/Clinician (if known)
GeneticClinicalReferral.serviceRequested 1..1 CodeableConcept Referral Type / Service Requested
Required Pattern: 
{
  "coding" : [
    {
      "system" : "http://snomed.info/sct",
      "code" : "306119003"
    }
  ]
}
GeneticClinicalReferral.reasonForReferral 0..* CodeableConcept Reason for referral
Binding: Genomic Clinical Indication Codes (extensible)
GeneticClinicalReferral.clinicalInformation 0..1 string Clinical details
GeneticClinicalReferral.forms 0..* Reference(QuestionnaireResponse) Referral forms
GeneticClinicalReferral.consultand 0..* Reference(RelatedPerson) Consultand
GeneticClinicalReferral.pathologyReport 0..* Reference(DocumentReference | Bundle) Pathology report
GeneticClinicalReferral.patientSummary 0..1 Reference(DocumentReference | Bundle) Patient summary
GeneticClinicalReferral.familyHistory 0..* Reference(FamilyMemberHistory | DocumentReference | Bundle) Family history

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
GeneticClinicalReferral.​status Base required RequestStatus 📦4.0.1 FHIR Std.
GeneticClinicalReferral.​priority Base required Request Priority 📦2.2.5 This IG
GeneticClinicalReferral.​patient.sexRegisteredAtBirth Base required AdministrativeGender 📦4.0.1 FHIR Std.
GeneticClinicalReferral.​referrer.specialty Base extensible UK Core Practice Setting Code 📦1.0.0 fhir.r4.ukcore.stu3.currentbuild v0.29
GeneticClinicalReferral.​reasonForReferral Base extensible Genomic Clinical Indication Codes 📦2.2.5 This IG

Constraints

Id Grade Path(s) Description Expression

 

Other representations of profile: CSV, Excel

Notes:

From Logical Model to Implementation Model

The logical model above is one aggregate - the referral as sent. For exchange it breaks down into a small ServiceRequest plus the forms and clinical documents it references, each owned by the actor that produced it and each reusable on its own.

flowchart LR
    subgraph LM["Genetic Clinical Referral (logical model)"]
        LID["referralIdentifier, status,<br/>priority, dateOfReferral,<br/>serviceRequested, reasonForReferral"]
        LP["patient"]
        LRF["referrer"]
        LRC["recipient"]
        LF["forms"]
        LC["consultand"]
        LPR["pathologyReport"]
        LPS["patientSummary"]
        LFH["familyHistory<br/>(structured, or family letter)"]
    end

    subgraph IM["Implementation model (FHIR)"]
        SR["ServiceRequest"]
        PAT["Patient"]
        PR["PractitionerRole /<br/>Organization"]
        HS["PractitionerRole /<br/>HealthcareService"]
        QR["QuestionnaireResponse"]
        RP["RelatedPerson"]
        DOC["Clinical Documents<br/>DocumentReference or<br/>Bundle (type = document)"]
        FMH["FamilyMemberHistory, or<br/>DocumentReference<br/>(family letter)"]
    end

    LID --> SR
    LP --> PAT
    LRF --> PR
    LRC --> HS
    LF --> QR
    LC --> RP
    LPR --> DOC
    LPS --> DOC
    LFH --> FMH

    SR -. subject .-> PAT
    SR -. requester .-> PR
    SR -. performer .-> HS
    SR -. supportingInfo .-> QR
    SR -. supportingInfo .-> RP
    SR -. supportingInfo .-> DOC
    SR -. supportingInfo .-> FMH
Logical model element(s) FHIR Profile HL7 v2 Segment Owned by
referralIdentifier, status, priority, dateOfReferral, serviceRequested, reasonForReferral, clinicalInformation ServiceRequest ORC, OBR, TQ1, DG1, NTE Referrer
patient Patient PID Patient administration (PAS/EPR)
referrer PractitionerRole, Organization ORC-12 / OBR-16, ORC-21 Referrer
recipient PractitionerRole or HealthcareService MSH-5 / MSH-6 Referral recipient (directory of services)
forms QuestionnaireResponse OBX Referrer
consultand RelatedPerson - see Genetic Referral Consultand NK1 Referrer
pathologyReport Clinical document - DocumentReference or FHIR Document OBX (RP or ED) Pathology laboratory
patientSummary Clinical document - DocumentReference or FHIR Document OBX (RP or ED) Patient's care provider (e.g. GP)
familyHistory FamilyMemberHistory, or the family letter as a DocumentReference -> Binary OBX (RP or ED) for the family letter NHS England NDRS (structured, at present); Referrer (family letter)

Forms

Referral forms - e.g. a national GMS test order form or a service-specific referral form - are carried as completed QuestionnaireResponses, each answering its own Questionnaire. This is the same pattern as Ask At Order Entry on Genomic Test Order: the form varies by referral type, the referral itself does not. A form is a structured answer set; it is not a clinical document.

Clinical Documents

A clinical document is referenced either as a DocumentReference (index entry pointing at the content) or as a FHIR Document Bundle (type = document, with a Composition as its root). The referral references the document; it does not copy the document's content into itself. The clinical documents in this model are pathologyReport and patientSummary.

Pathology Report
flowchart LR
    SR["ServiceRequest<br/>(referral)"]
    SPR["Clinical Document<br/>shared via NHS England SPR"]
    DR["DocumentReference"]
    BIN["Binary<br/>(PDF)"]

    SR -->|"supportingInfo - target"| SPR
    SR -.->|"supportingInfo - interim"| DR
    DR -.->|"content.attachment.url"| BIN
  • Target: a reference to the pathology report as a clinical document shared by the NHS England Single Patient Record (SPR) - the referral points at the document where it already lives, rather than carrying a copy. The document itself would be a FHIR Document (e.g. following the HL7 Europe Laboratory Report document perspective).
  • Interim: until that is available, the pathology report is an attached PDF - ServiceRequest.supportingInfo references a DocumentReference, whose content.attachment.url points at a Binary holding the PDF. In HL7 v2 this is an OBX with type ED.

Either way the logical model element is the same (pathologyReport); only the implementation changes, so moving from the interim to the target does not change the referral model.

NHS England NDRS (National Disease Registration Service) also holds Cancer Pathology Reports. These are pathology studies, so the same reports can also be included in the Genomic Test Order (its pathologyReport element) when a referral leads to a test.

Patient Summary

The patient summary is another clinical document referenced from the referral, implemented the same way as the pathology report (a reference to a shared clinical document, or an attached document in the interim).

Family Letter

The family letter is carried in familyHistory, alongside structured family history - see Family History below.

How the Pieces Travel

Exchange Format What is sent
HL7 v2 messaging OMG^O19, status updates OSU^O51 PID, NK1, PV1, ORC, TQ1, OBR, DG1, NTE segments; forms and documents as OBX (reference pointer, or encapsulated PDF)
FHIR Messaging FHIR Message (referral) Bundle (type = message) containing MessageHeader, ServiceRequest, Patient, PractitionerRole, QuestionnaireResponse and RelatedPerson; clinical documents by reference (or a DocumentReference + Binary in the interim)
FHIR RESTful API Health Data API / SPR ServiceRequest and its referenced resources; clinical documents retrieved from where they are shared
Document sharing MHD / NHS England NRL / SPR DocumentReference (pathology report, patient summary, family letter), with DocumentReference.context.related pointing back to the referral

Rules

  • The Referral Identifier (ORC-2/OBR-2, ServiceRequest.identifier) is present in every message and on every resource that relates to the referral.
  • Clinical content travels as documents referenced from the referral - the pathology report, patient summary and family letter are never copied into the ServiceRequest.
  • Forms are structured (QuestionnaireResponse); documents are not. A form is never used to carry a document, and a document is never used to carry structured referral data.
  • A named consultand is structured (RelatedPerson, NK1), one per relative.
  • Family history retrieved from NDRS is structured (FamilyMemberHistory), one per relative, and may not be current.
  • The Genetic Clinical Referral Questionnaire is the form representation of this model - its linkIds are listed on the Mappings tab. forms, pathologyReport and patientSummary are in its Supporting Information group; familyHistory maps to its Family History group.

Domain Archetype

erDiagram
    Patient ||--|{ ServiceRequest : subject
    ServiceRequest }o--|| PractitionerRole : "requester (Referring Provider, ORC-12/ORC-21)"
    ServiceRequest }o--o{ PractitionerRole : "performer (Referred-to Provider, MSH-5/MSH-6)"
    ServiceRequest }o--o{ HealthcareService : "performer (Referred-to Service, MSH-5/MSH-6)"
    PractitionerRole }o--|| Organization : organization
    ServiceRequest ||--o| Condition : reasonReference
    ServiceRequest ||--o{ DocumentReference : "supportingInfo (Family Letter)"
    DocumentReference ||--o| Binary : "content (Attachment.url)"
    ServiceRequest ||--o| Observation : "supportingInfo (G Number)"
    ServiceRequest ||--o{ RelatedPerson : "supportingInfo (Consultand)"
    RelatedPerson }o--|| Patient : "patient (the proband)"

    Patient {
        Identifier nhsNumber
        Identifier medicalRecordNumber
    }

    Observation {
        valueString pedigreeNumber "LOINC 74027-4"
    }

    ServiceRequest {
        Identifier referralIdentifier "ORC-2/OBR-2"
        code status "ORC-1/ORC-5"
        code priority "TQ1-9"
        CodeableConcept code "OBR-4 - SNOMED CT 306119003"
        string note "brief note, if no letter attached"
    }

    PractitionerRole {
        Identifier practitionerIdentifier
    }

    Organization {
        Identifier organisationCode
    }

    HealthcareService {
        string name
    }

    Condition {
        CodeableConcept code "Suspected/confirmed condition"
    }

    DocumentReference {
        code type "Family Letter"
    }

    Binary {
        code contentType
        base64Binary data
    }

    RelatedPerson {
        Identifier nhsNumber "if known"
        HumanName name
        CodeableConcept relationship "NK1-3"
        code gender "NK1.15"
        date birthDate "NK1-16"
    }

This is a level 2 (field-level) sketch of Genetic Referrals' own Target Referral Model - the same entities, with the elements this model actually carries.

Differences from Genomic Test Order

Both models exist for the same reason - a computable common core, extended per scenario rather than re-modelled each time - but a clinical referral and a laboratory order are genuinely different things. The table below is the concrete comparison:

Aspect Genomic Test Order Genetic Clinical Referral
HL7 v2 basis OML_O21 (Laboratory Order), ORC/OBR OMG^O19 (General Clinical Order, IHE 360X), ORC/OBR, status updates OSU^O51
What it requests A specific laboratory test, from a Genomic Test Directory code An assessment/service (e.g. genetic counselling, cascade testing) - not a specific lab test. ServiceRequest.code / OBR-4 is SNOMED CT 306119003
Patient demographics PID - Patient group Same - reuses the identical items (both populate PID)
Who initiated it Healthcare Professional group (ORC-12/ORC-21) - a single referrer Referring Provider group (ORC-12/ORC-21) - same shape, same reused items
Who it's going to (implicit - the destination LIMS is fixed, not chosen per-order) Referred-to Provider/Service group (MSH-5/MSH-6) - new, no equivalent in Genomic Test Order. A referral explicitly names the receiving clinic/service; an order doesn't need to, because the Order Filler is already fixed
Test/order identifier Order Placer/Filler Number (ORC-2/ORC-3) - no genuine ORC-4/Order Group Number field exists on either model (G Number/pedigree number is a separate, family-level concept - see Genomic General Ask At Order Entry) Referral Identifier (ORC-2/OBR-2) - a single identifier, not a Placer/Filler pair, and no eRS UBRN equivalent modelled (see Genetic Referrals - Notes on this sketch)
Priority ServiceRequest.priority (LN/82768-3) Same - reuses the identical item (TQ1-9 maps onto the same FHIR element)
Reason Suspected disease/CITT code (LN/51967-8) plus free-text clinical information (NTE-1) Same reason-code item reused (OBR-31/DG1)
Specimen Specimen/Biopsy group - detailed fields (type, body site, accession number, collection/received dates, shipment tracking) None. A referral is a request for assessment, not a physical test - no specimen is collected until/unless it leads to an actual Genomic Test Order later
Order/test-type-specific detail Ask At Order Entry Questionnaires - structured, derivedFrom/extended, exactly one applies per order/test type (see Order Entry Questions) Partly structured. General family history stays in an attached family letter (supportingInfo -> DocumentReference -> Binary, the same pattern eRS uses) or free text - but a named consultand is structured via Genetic Referral Consultand (supportingInfo -> RelatedPerson, HL7 v2 NK1), derivedFrom/extended the same way, except repeating (one per named relative) rather than a single choice - see Order Entry Questions below

Family History

Genomic Test Order's Ask At Order Entry Questionnaires model order-type-specific detail as structured, coded data. A referral's equivalent detail doesn't have that today: per Genetic Referrals's "Genetic Counselling / Cascade Testing Referral" section and Cancer Background Information for Use Cases - Genetic Counselling Referral Across Regions, this detail is carried in an unstructured family letter - a dictated or secure-email clinical letter summarising the variant/condition, the inheritance pattern, and which relatives are thought to be at risk. Rather than inventing a structured family-history data model that doesn't exist in current practice, this model treats the letter itself as an attachment: ServiceRequest.supportingInfo references a DocumentReference, whose content.attachment.url points at a Binary holding the actual document (with a separate free-text ServiceRequest.note item as a fallback for a brief note sent without an attached letter). This is not a new pattern invented for this model - it is the same shape NHS e-Referral Service (eRS) already uses for referral attachments (ReferralRequest.supportingInfo -> DocumentReference), see Genetic Referrals - eRS FHIR Resource Model.

Structured family history (familyHistory, one FamilyMemberHistory per relative) is also part of this model. At present clinical genetics is believed to retrieve this information from NHS England NDRS (National Disease Registration Service), rather than receiving it in the referral.

General family history - the wider pedigree, who else is affected - stays in that unstructured letter; this model doesn't attempt to structure all of it. The one part that is called out as structured is a named consultand - a specific at-risk relative who is themselves being referred for counselling/testing, not just mentioned in passing - see Order Entry Questions below.

Order Entry Questions

The Genetic Clinical Referral Questionnaire is the common core referral form, the same way Genomic Test Order is the common core order form. Where a named consultand is being referred alongside (or instead of) the proband, that detail is added by a separate, derivedFrom/extended Questionnaire representing HL7 v2 NK1 (Next of Kin/Associated Parties) as a FHIR RelatedPerson, referenced from ServiceRequest.supportingInfo - the same supportingInfo slot the family letter's DocumentReference uses, just a different resource type:

Referral Content Questionnaire
Named consultand (structured, NK1/RelatedPerson) Genetic Clinical Referral - Consultand (RelatedPerson)

Unlike Genomic Test Order, where exactly one Ask At Order Entry Questionnaire applies per order/test type, this table is expected to grow by repetition rather than by alternative: a referral naming three at-risk relatives would reference three separate GeneticReferralConsultand-derived answers, one per consultand, not a choice between variants.

Data Models

Nothing on this page has been adopted as an active profile or interface in this IG.