- NHS North West Genomics v2.2.0

NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Questionnaire: Genetic Clinical Referral

Official URL: https://fhir.nwgenomics.nhs.uk/Questionnaire/GeneticClinicalReferral				Version: 2.2.0	Highlight text changes?
Unknown as of 2026-09-20					Computable Name:

For analysis purposes only - not an active or planned project. See Genetic Referrals for the narrative use case this Questionnaire sketches a computable data model for, and Genetic Clinical Referral - Differences from Genomic Test Order for how this compares to Genomic Test Order.

This is a closed-loop clinical referral into a genomics/clinical genetics service (see Genetic Referrals), modelled on HL7 v2 REF_I12 (Patient Referral) - not a laboratory order. Where a data item is genuinely the same one Genomic Test Order already captures (e.g. patient demographics), this Questionnaire reuses the same item, per the "check for existing patterns" principle in How To Engineer (scale and deliver) Interoperability.

This is for information and analysis purposes only and is not an active or planned project.

This Questionnaire sketches a computable data model for a closed-loop clinical referral into a genomics/clinical genetics service - the narrative use case is Genetic Referrals, and the underlying HL7 v2 message this is modelled on is REF_I12 (Patient Referral), per that page's own Referral Data Model and Target Referral Model.

It is deliberately built the same way as Genomic Test Order and Genomic Test Report - a computable FHIR Questionnaire, not a spreadsheet or Word document - see How To Engineer (scale and deliver) Interoperability for why this IG prefers that approach. Where a data item is genuinely the same one Genomic Test Order already captures (e.g. patient demographics, both populating HL7 v2 PID), this Questionnaire reuses the same item rather than re-defining it, per the "check for existing patterns" principle on that same page.

Domain Archetype

HL7 v2 Message: `REF_I12` (Patient Referral)

erDiagram
    Patient ||--|{ ServiceRequest : subject
    ServiceRequest }o--|| PractitionerRole : "requester (Referring Provider, PRD)"
    ServiceRequest }o--o{ PractitionerRole : "performer (Referred-to Provider, PRD)"
    ServiceRequest }o--o{ HealthcareService : "performer (Referred-to Service, PRD)"
    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 "RF1-6"
        code status "RF1-1"
        code priority "RF1-2"
        string code "RF1-4 - not yet coded"
        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 fields this Questionnaire actually asks.

Differences from Genomic Test Order

Both Questionnaires 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 REF_I12 (Patient Referral), RF1/PRD

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

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 (PRD, role = Referring Provider) - 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 (PRD, role = Referred-to Provider) - 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 Questionnaire (G Number/pedigree number is a separate, family-level concept - see Genomic General Ask At Order Entry) Referral Identifier (RF1-6) - 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 (RF1-2 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 (RF1-12/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

Aspect	Genomic Test Order	Genetic Clinical Referral
HL7 v2 basis	`OML_O21` (Laboratory Order), `ORC`/`OBR`	`REF_I12` (Patient Referral), `RF1`/`PRD`
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
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 (`PRD`, role = Referring Provider) - 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 (`PRD`, role = Referred-to Provider) - 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 Questionnaire (`G Number`/pedigree number is a separate, family-level concept - see Genomic General Ask At Order Entry)	Referral Identifier (`RF1-6`) - 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 (`RF1-2` 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 (`RF1-12`/`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 Questionnaire models 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 Questionnaire - 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.

General family history - the wider pedigree, who else is affected - stays in that unstructured letter; this Questionnaire 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

This Genetic Clinical Referral Questionnaire (defined above) 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)

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

Genomic Test Order - the equivalent archetype for a laboratory order, compared above
Genetic Clinical Referral - Consultand (RelatedPerson) - the derivedFrom/extended Questionnaire for a named consultand, see Order Entry Questions above
RelatedPerson - the FHIR profile the Consultand Questionnaire structures (HL7 v2 NK1)
Diagnostic Model Overview - the identifier profiles reused above (NHS Identifier, Medical Record Number, Order Identifier)
Genetic Referrals - the narrative use case, actors, transactions and REF_I12/eRS/BaRS mapping this Questionnaire is built from

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

Tree view
Sample Rendering
Form Logic

Profile: Questionnaire

LinkID	Text	Cardinality	Type	Description & Constraints
	For analysis purposes only - not an active or planned project. See [Genetic Referrals](GeneticReferrals.html) for the narrative use case this Questionnaire sketches a computable data model for, and [Genetic Clinical Referral - Differences from Genomic Test Order](Questionnaire-GeneticClinicalReferral.html#differences-from-genomic-test-order) for how this compares to [Genomic Test Order](Questionnaire-GenomicTestOrder.html). This is a closed-loop clinical referral into a genomics/clinical genetics service (see [Genetic Referrals](GeneticReferrals.html)), modelled on HL7 v2 `REF_I12` (Patient Referral) - not a laboratory order. Where a data item is genuinely the same one [Genomic Test Order](Questionnaire-GenomicTestOrder.html) already captures (e.g. patient demographics), this Questionnaire reuses the same item, per the "check for existing patterns" principle in [How To Engineer (scale and deliver) Interoperability](HowToEngineerInteroperability.html#check-for-existing-patterns-before-modelling-new-ones).		Questionnaire	https://fhir.nwgenomics.nhs.uk/Questionnaire/GeneticClinicalReferral#2.2.0
Patient	Patient	0..1	group	Definition: Patient Value Set:
Patient-designNote	Reuses the same items as Genomic Test Order's Patient group - both populate the same HL7 v2 PID segment.	0..1	display	Value Set:
LN/45394-4	Patient surname	1..1	string	Definition: Patient.name.family Value Set:
LN/45392-8	Patient first name	1..1	string	Definition: Patient.name.given Value Set:
LN/21112-8	Date of birth	1..1	date	Definition: Patient.birthDate Value Set:
LN/56799-0	Address	0..1	group	Definition: Patient.address Value Set:
HL7/PID-11-1	Address Line	0..*	string	Definition: Patient.address.line Value Set:
LN/45401-7	Postcode	0..1	string	Definition: Patient.address.postalCode Value Set:
LN/46098-0	Sex registered at birth	0..1	choice	Definition: Patient.gender Value Set: AdministrativeGender
LN/89061-6	NHS Number	0..1	string	Definition: Patient.identifier:nhsNumber Value Set:
LN/76435-7	Hospital Number (Medical Record Number)	0..1	string	Definition: Patient.identifier:MedicalRecordNumber Value Set:
LN/56797-4	Account Number (Episode or Stay Number)	0..1	string	Definition: ServiceRequest.encounter.identifier.value Value Set:
LN/56797-4-designNote	REF_I12 PID-18 (Patient Account Number) - not the unrelated v2 ACC segment.	0..1	display	Value Set:
pedigreeNumber	G Number (Pedigree Number)	0..1	string	Definition: Observation.valueString Value Set:
pedigreeNumber-designNote	Links the proband to consultands (at-risk relatives) referred as part of the same family investigation - see Distributed WGS (dWGS) Family Structure/Participant Type pattern. Modelled as Observation.valueString, not a Patient identifier - see Genomic General Ask At Order Entry's own G Number (Pedigree Number) item and WholeGenomicSequence.html for why.	0..1	display	Value Set:
ReferringProvider	Referring Provider/Organisation (PRD, role = Referring Provider)	0..1	group	Definition: PractitionerRole Value Set:
ReferringProvider-designNote	REF_I12 PRD segment, role-coded as Referring Provider. Reuses the same items as Genomic Test Order's Healthcare Professional group.	0..1	display	Value Set:
LN/18705-4	Referring Clinician Name	1..1	string	Definition: PractitionerRole.practitioner.display Value Set:
LN/18707-0	Referring Clinician Current Speciality	0..1	choice	Definition: PractitionerRole.specialty.coding.code Value Set: UK Core Practice Setting Code
LN/46608-6	Referring Clinician Professional Identifier	0..1	string	Definition: PractitionerRole.practitioner.identifier.value Value Set:
LN/89058-2	Email	0..*	string	Definition: PractitionerRole.telecom.value Value Set:
LN/81230-5	Phone	0..1	string	Definition: PractitionerRole.telecom.value Value Set:
HL7/PRD-referring-org	Referring Organisation ODS Code	0..1	string	Definition: PractitionerRole.organization.identifier.value Value Set:
ReferredToProvider	Referred-to Provider/Service (PRD, role = Referred-to Provider)	0..1	group	Definition: ServiceRequest.performer Value Set:
ReferredToProvider-designNote	REF_I12 PRD segment, role-coded as Referred-to Provider - who/what the referral is being sent to. Genomic Test Order has no equivalent group: an order's Order Filler is implicit/fixed (the destination LIMS), whereas a referral explicitly names the receiving clinic/service - see Differences from Genomic Test Order below. May be a named clinician (PractitionerRole) or a service/clinic (HealthcareService) rather than a named individual.	0..1	display	Value Set:
ReferredToProvider/serviceName	Referred-to Service/Clinic Name	0..1	string	Definition: HealthcareService.name Value Set:
ReferredToProvider/organisationCode	Referred-to Organisation ODS Code	0..1	string	Definition: PractitionerRole.organization.identifier.value Value Set:
ReferredToProvider/clinicianName	Named Consultant/Clinician (if known)	0..1	string	Definition: PractitionerRole.practitioner.display Value Set:
Referral	Referral (RF1)	0..1	group	Definition: ServiceRequest Value Set:
HL7/RF1-6	Referral Identifier	0..1	string	Definition: ServiceRequest.identifier:OrderIdentifier Value Set:
HL7/RF1-1	Referral Status	0..1	choice	Definition: ServiceRequest.status Value Set: RequestStatus
LN/82768-3	Priority	0..1	choice	Definition: ServiceRequest.priority Value Set: Request Priority
HL7/RF1-4	Referral Type / Service Requested	0..1	string	Definition: ServiceRequest.code Value Set:
HL7/RF1-4-designNote	Not currently modelled as a coded value in this IG - see Genetic Referrals - Referral Data Model. Unlike Genomic Test Order's Test Code, this is not a Genomic Test Directory code: it names the clinical service/assessment being requested (e.g. genetic counselling, cascade testing), not a specific lab test.	0..1	display	Value Set:
ReasonForReferral	Reason for Referral (RF1-12 / DG1)	0..1	group	Value Set:
LN/51967-8	Suspected/confirmed condition (reason for referral)	0..*	choice	Definition: ServiceRequest.reasonCode Value Set: Genomic Clinical Indication Codes
FamilyHistory	Family History (Family Letter)	0..1	group	Value Set:
FamilyHistory-designNote	Genomic Test Order's order/test-type-specific detail is captured by structured Ask At Order Entry Questionnaires. A referral has no equivalent structured sub-Questionnaire today: the corresponding detail - who else in the family is affected, the inheritance pattern, degree of relationship of at-risk relatives - travels as free text or an attached document within the unstructured family letter (see Genetic Referrals and Cancer Background Information for Use Cases - Genetic Counselling Referral Across Regions), not as discrete data items. A future structured representation could use FamilyMemberHistory per relative (see the FamilyMemberHistory examples on Genomic Test Report), but that is not attempted here.	0..1	display	Value Set:
HL7/NTE-1	Family Letter / Clinical Details (free text)	0..1	string	Definition: ServiceRequest.note Value Set:
FamilyHistory/attachment	Family Letter (attached document)	0..1	reference	Definition: ServiceRequest.supportingInfo Value Set:
FamilyHistory/attachment-designNote	ServiceRequest.supportingInfo references a DocumentReference (the family letter), whose own DocumentReference.content.attachment.url points at a Binary holding the actual document - the same pattern NHS e-Referral Service (eRS) itself already uses for referral attachments (ReferralRequest.supportingInfo -> DocumentReference) - see Genetic Referrals - eRS FHIR Resource Model.	0..1	display	Value Set:
Documentation for this format

Profile: Questionnaire

Patient

linkId: Patient
Definition:: Patient
Answers:

Reuses the same items as Genomic Test Order's Patient group - both populate the same HL7 v2 PID segment.

linkId: Patient-designNote
Answers:

Patient surname*

linkId: LN/45394-4
Definition:: Patient.name.family
Answers:

Patient first name*

linkId: LN/45392-8
Definition:: Patient.name.given
Answers:

Date of birth*

linkId: LN/21112-8
Definition:: Patient.birthDate
Answers:

Address

linkId: LN/56799-0
Definition:: Patient.address
Answers:

Address Line

linkId: HL7/PID-11-1
Definition:: Patient.address.line
Answers:

Postcode

linkId: LN/45401-7
Definition:: Patient.address.postalCode
Answers:

Sex registered at birth

linkId: LN/46098-0
Definition:: Patient.gender
Answers: AdministrativeGender

NHS Number

linkId: LN/89061-6
Definition:: Patient.identifier:nhsNumber
Answers:

Hospital Number (Medical Record Number)

linkId: LN/76435-7
Definition:: Patient.identifier:MedicalRecordNumber
Answers:

Account Number (Episode or Stay Number)

linkId: LN/56797-4
Definition:: ServiceRequest.encounter.identifier.value
Answers:

REF_I12 PID-18 (Patient Account Number) - not the unrelated v2 ACC segment.

linkId: LN/56797-4-designNote
Answers:

G Number (Pedigree Number)

linkId: pedigreeNumber
Definition:: Observation.valueString
Answers:

Links the proband to consultands (at-risk relatives) referred as part of the same family investigation - see Distributed WGS (dWGS) Family Structure/Participant Type pattern. Modelled as Observation.valueString, not a Patient identifier - see Genomic General Ask At Order Entry's own G Number (Pedigree Number) item and WholeGenomicSequence.html for why.

linkId: pedigreeNumber-designNote
Answers:

Referring Provider/Organisation (PRD, role = Referring Provider)

linkId: ReferringProvider
Definition:: PractitionerRole
Answers:

REF_I12 PRD segment, role-coded as Referring Provider. Reuses the same items as Genomic Test Order's Healthcare Professional group.

linkId: ReferringProvider-designNote
Answers:

Referring Clinician Name*

linkId: LN/18705-4
Definition:: PractitionerRole.practitioner.display
Answers:

Referring Clinician Current Speciality

linkId: LN/18707-0
Definition:: PractitionerRole.specialty.coding.code
Answers: UK Core Practice Setting Code

Referring Clinician Professional Identifier

linkId: LN/46608-6
Definition:: PractitionerRole.practitioner.identifier.value
Answers:

linkId: LN/89058-2
Definition:: PractitionerRole.telecom.value
Answers:

Phone

linkId: LN/81230-5
Definition:: PractitionerRole.telecom.value
Answers:

Referring Organisation ODS Code

linkId: HL7/PRD-referring-org
Definition:: PractitionerRole.organization.identifier.value
Answers:

Referred-to Provider/Service (PRD, role = Referred-to Provider)

linkId: ReferredToProvider
Definition:: ServiceRequest.performer
Answers:

REF_I12 PRD segment, role-coded as Referred-to Provider - who/what the referral is being sent to. Genomic Test Order has no equivalent group: an order's Order Filler is implicit/fixed (the destination LIMS), whereas a referral explicitly names the receiving clinic/service - see Differences from Genomic Test Order below. May be a named clinician (PractitionerRole) or a service/clinic (HealthcareService) rather than a named individual.

linkId: ReferredToProvider-designNote
Answers:

Referred-to Service/Clinic Name

linkId: ReferredToProvider/serviceName
Definition:: HealthcareService.name
Answers:

Referred-to Organisation ODS Code

linkId: ReferredToProvider/organisationCode
Definition:: PractitionerRole.organization.identifier.value
Answers:

Named Consultant/Clinician (if known)

linkId: ReferredToProvider/clinicianName
Definition:: PractitionerRole.practitioner.display
Answers:

Referral (RF1)

linkId: Referral
Definition:: ServiceRequest
Answers:

Referral Identifier

linkId: HL7/RF1-6
Definition:: ServiceRequest.identifier:OrderIdentifier
Answers:

Referral Status

linkId: HL7/RF1-1
Definition:: ServiceRequest.status
Answers: RequestStatus

Priority

linkId: LN/82768-3
Definition:: ServiceRequest.priority
Answers: Request Priority

Referral Type / Service Requested

linkId: HL7/RF1-4
Definition:: ServiceRequest.code
Answers:

Not currently modelled as a coded value in this IG - see Genetic Referrals - Referral Data Model. Unlike Genomic Test Order's Test Code, this is not a Genomic Test Directory code: it names the clinical service/assessment being requested (e.g. genetic counselling, cascade testing), not a specific lab test.

linkId: HL7/RF1-4-designNote
Answers:

Reason for Referral (RF1-12 / DG1)

linkId: ReasonForReferral
Answers:

Suspected/confirmed condition (reason for referral)

linkId: LN/51967-8
Definition:: ServiceRequest.reasonCode
Answers: Genomic Clinical Indication Codes

Family History (Family Letter)

linkId: FamilyHistory
Answers:

Genomic Test Order's order/test-type-specific detail is captured by structured Ask At Order Entry Questionnaires. A referral has no equivalent structured sub-Questionnaire today: the corresponding detail - who else in the family is affected, the inheritance pattern, degree of relationship of at-risk relatives - travels as free text or an attached document within the unstructured **family letter** (see Genetic Referrals and Cancer Background Information for Use Cases - Genetic Counselling Referral Across Regions), not as discrete data items. A future structured representation could use FamilyMemberHistory per relative (see the FamilyMemberHistory examples on Genomic Test Report), but that is not attempted here.

linkId: FamilyHistory-designNote
Answers:

Family Letter / Clinical Details (free text)

linkId: HL7/NTE-1
Definition:: ServiceRequest.note
Answers:

Family Letter (attached document)

linkId: FamilyHistory/attachment
Definition:: ServiceRequest.supportingInfo
Answers:

ServiceRequest.supportingInfo references a DocumentReference (the family letter), whose own DocumentReference.content.attachment.url points at a Binary holding the actual document - the same pattern NHS e-Referral Service (eRS) itself already uses for referral attachments (ReferralRequest.supportingInfo -> DocumentReference) - see Genetic Referrals - eRS FHIR Resource Model.

linkId: FamilyHistory/attachment-designNote
Answers:

Profile: Questionnaire

LinkID	Description & Constraints
Patient	Definition: Patient Value Set:
Patient-designNote	Value Set:
LN/45394-4	Definition: Patient.name.family Value Set:
LN/45392-8	Definition: Patient.name.given Value Set:
LN/21112-8	Definition: Patient.birthDate Value Set:
LN/56799-0	Definition: Patient.address Value Set:
HL7/PID-11-1	Definition: Patient.address.line Value Set:
LN/45401-7	Definition: Patient.address.postalCode Value Set:
LN/46098-0	Definition: Patient.gender Value Set: AdministrativeGender
LN/89061-6	Definition: Patient.identifier:nhsNumber Value Set:
LN/76435-7	Definition: Patient.identifier:MedicalRecordNumber Value Set:
LN/56797-4	Definition: ServiceRequest.encounter.identifier.value Value Set:
LN/56797-4-designNote	Value Set:
pedigreeNumber	Definition: Observation.valueString Value Set:
pedigreeNumber-designNote	Value Set:
ReferringProvider	Definition: PractitionerRole Value Set:
ReferringProvider-designNote	Value Set:
LN/18705-4	Definition: PractitionerRole.practitioner.display Value Set:
LN/18707-0	Definition: PractitionerRole.specialty.coding.code Value Set: UK Core Practice Setting Code
LN/46608-6	Definition: PractitionerRole.practitioner.identifier.value Value Set:
LN/89058-2	Definition: PractitionerRole.telecom.value Value Set:
LN/81230-5	Definition: PractitionerRole.telecom.value Value Set:
HL7/PRD-referring-org	Definition: PractitionerRole.organization.identifier.value Value Set:
ReferredToProvider	Definition: ServiceRequest.performer Value Set:
ReferredToProvider-designNote	Value Set:
ReferredToProvider/serviceName	Definition: HealthcareService.name Value Set:
ReferredToProvider/organisationCode	Definition: PractitionerRole.organization.identifier.value Value Set:
ReferredToProvider/clinicianName	Definition: PractitionerRole.practitioner.display Value Set:
Referral	Definition: ServiceRequest Value Set:
HL7/RF1-6	Definition: ServiceRequest.identifier:OrderIdentifier Value Set:
HL7/RF1-1	Definition: ServiceRequest.status Value Set: RequestStatus
LN/82768-3	Definition: ServiceRequest.priority Value Set: Request Priority
HL7/RF1-4	Definition: ServiceRequest.code Value Set:
HL7/RF1-4-designNote	Value Set:
ReasonForReferral	Value Set:
LN/51967-8	Definition: ServiceRequest.reasonCode Value Set: Genomic Clinical Indication Codes
FamilyHistory	Value Set:
FamilyHistory-designNote	Value Set:
HL7/NTE-1	Definition: ServiceRequest.note Value Set:
FamilyHistory/attachment	Definition: ServiceRequest.supportingInfo Value Set:
FamilyHistory/attachment-designNote	Value Set:
Documentation for this format

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Responses for this Questionnaire

There are currently no QuestionnaireResponse instances for this Questionnaire defined in this IG.