NHS North West Genomics
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Questionnaire: Genetic Clinical Referral - Consultand (RelatedPerson)

Official URL: https://fhir.nwgenomics.nhs.uk/Questionnaire/GeneticReferralConsultand Version: 2.2.0
Draft as of 2026-09-20 Computable Name:

For analysis purposes only - not an active or planned project. See Genetic Clinical Referral for the common core this extends.

Structured detail for a named consultand - an at-risk relative of the proband (the patient on the referral itself) being referred for genetic counselling and/or cascade testing - see Genetic Referrals for the Proband/Consultand distinction. This represents HL7 v2 NK1 (Next of Kin/Associated Parties), converted to FHIR RelatedPerson.

This is the same NK1-shaped RelatedPerson group as WGS Test Additional Ask At Order Entry Questions - Related Individual (NK1) (NOS/RelatedIndividual), generalised from this Questionnaire's own original Consultand-only shape - a Role item now states whether this entry is a Consultand (the usual case here) or a Proband (the reverse direction, used when the referral's own Patient is itself a family member rather than the proband - see WGS Local Test Order's NOS/Proband for the same pattern applied to a lab order rather than a referral).

Scope note: general family history (who else is affected, the wider pedigree) remains in the unstructured family letter referenced from Genetic Clinical Referral

  • this Questionnaire only structures the part of that information that identifies a named consultand who is themselves being referred, following the same shape as an NK1 segment.

This Questionnaire derivedFrom/extends Genetic Clinical Referral the same way an Ask At Order Entry Questionnaire extends Genomic Test Order - see Genetic Clinical Referral - Order Entry Questions. It structures a repeating Related Individual (NK1) group - the same NK1-shaped RelatedPerson group as WGS Test Additional Ask At Order Entry Questions's own NOS/RelatedIndividual, generalised from this Questionnaire's original Consultand-only shape. A Role item states which direction each entry is: usually a named consultand (an at-risk relative of the proband, per Genetic Referrals's Proband/Consultand terminology) being referred alongside or instead of the proband, referenced from ServiceRequest.supportingInfo on the referral itself - but it can also name the proband, the reverse direction, for the (currently theoretical) case of a referral whose own Patient is itself a family member rather than the proband, the same pattern WGS Local Test Order's NOS/Proband uses on a lab order.

Scope note: this is deliberately narrow. General family history - the wider pedigree, who else in the family is affected - stays in the unstructured family letter (see Genetic Clinical Referral - Family History). Only the part of that information that names a specific consultand who is themselves being referred is structured here, following the shape of an HL7 v2 NK1 segment.

Domain Archetype

erDiagram
    RelatedPerson }o--|| Patient : "patient (proband, usually)"

    RelatedPerson {
        CodeableConcept role "Consultand or Proband"
        HumanName name "NK1-2"
        CodeableConcept relationship "NK1-3"
        code gender "NK1.15"
        date birthDate "NK1-16"
        Identifier nhsNumber "NK1-33, if known"
        Identifier medicalRecordNumber "NK1-33, if known"
    }

    Patient {
        Identifier nhsNumber
        Identifier medicalRecordNumber
    }

RelatedPerson.patient always references the same Patient as Genetic Clinical Referral's own Patient group. When Role = Consultand (the usual case), that Patient is the proband and this group names a relative of theirs. When Role = Proband, that Patient is instead a family member, and this group names the original proband. A named individual's own NHS Number/Medical Record Number is only completed if they are themselves already a patient somewhere (e.g. already known to the referring service) - it is not required, since many named at referral time won't yet have any record of their own.

Field Mapping

Name HL7 v2 Value Set / Data Type FHIR RelatedPerson
Role (Consultand or Proband) - Local (NWGMSA RoleConsultand/RoleProband) - (discriminator only)
Name NK1-2 - RelatedPerson.name
Relationship to Proband NK1-3 UKCorePersonRelationshipType RelatedPerson.relationship
Administrative Sex NK1.15 AdministrativeGender RelatedPerson.gender
Date of Birth NK1-16 - RelatedPerson.birthDate
NHS Number (if known) NK1-33 NHS Identifier RelatedPerson.identifier:nhsNumber
Hospital Number (if known) NK1-33 Medical Record Number RelatedPerson.identifier:MedicalRecordNumber

​Real RelatedPerson examples already in this IG (e.g. RelatedPerson-MotherCerseiLondon) code relationship with HL7 v3 RoleCode (e.g. MTH "mother") rather than UKCore-PersonRelationshipType - both are shown as options above since neither is yet the confirmed convention for this specific Questionnaire.

Data Models

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

Profile: Questionnaire

Structure
LinkIDTextCardinalityTypeDescription & Constraintsdoco
.. **For analysis purposes only - not an active or planned project.** See [Genetic Clinical Referral](Questionnaire-GeneticClinicalReferral.html) for the common core this extends. Structured detail for a named **consultand** - an at-risk relative of the proband (the patient on the referral itself) being referred for genetic counselling and/or cascade testing - see [Genetic Referrals](GeneticReferrals.html) for the Proband/Consultand distinction. This represents HL7 v2 `NK1` (Next of Kin/Associated Parties), converted to FHIR `RelatedPerson`. This is the same NK1-shaped `RelatedPerson` group as [WGS Test Additional Ask At Order Entry Questions - Related Individual (NK1)](Questionnaire-WGSTestAdditionalAskAtOrderQuestions.html) (`NOS/RelatedIndividual`), generalised from this Questionnaire's own original Consultand-only shape - a **Role** item now states whether this entry is a **Consultand** (the usual case here) or a **Proband** (the reverse direction, used when the referral's own Patient is itself a family member rather than the proband - see [WGS Local Test Order](Questionnaire-WGSLocalTestOrderAskAtOrderEntry.html)'s `NOS/Proband` for the same pattern applied to a lab order rather than a referral). **Scope note:** general family history (who else is affected, the wider pedigree) remains in the unstructured family letter referenced from [Genetic Clinical Referral](Questionnaire-GeneticClinicalReferral.html#family-history) - this Questionnaire only structures the part of that information that identifies a *named* consultand who is themselves being referred, following the same shape as an `NK1` segment. Questionnaire https://fhir.nwgenomics.nhs.uk/Questionnaire/GeneticReferralConsultand#2.2.0
... NOS/RelatedIndividual Related Individual (NK1) 0..* group Definition: RelatedPerson
Value Set:
.... NOS/RelatedIndividual-designNote Generalised from this Questionnaire's original Consultand-only shape to match NW Genomic General Ask At Order Questions' own Related Individual (NK1) group - see Role below for what distinguishes a Consultand from a Proband here. 0..1 display Value Set:
.... NOS/RelatedIndividualRole Role 1..1 choice Value Set:
Options: 2 options
.... HL7/NK1-2 Name 1..1 string Definition: RelatedPerson.name
Value Set:
.... HL7/NK1-3 Relationship to Proband 1..1 choice Definition: RelatedPerson.relationship
Value Set: UK Core Person Relationship Type
..... HL7/NK1-3-designNote Real examples in this IG currently code this with HL7 v3 RoleCode (e.g. MTH "mother") rather than UKCore-PersonRelationshipType - see RelatedPerson-MotherCerseiLondon. When Role = Proband, this is still the family member's relationship to the proband (e.g. the family member is the proband's MTH "mother"), the same direction as when Role = Consultand. 0..1 display Value Set:
.... HL7/NK1.15 Administrative Sex 0..1 choice Definition: RelatedPerson.gender
Value Set: AdministrativeGender
.... HL7/NK1-16 Date of Birth 0..1 date Definition: RelatedPerson.birthDate
Value Set:
.... LN/89061-6 NHS Number (if known) 0..1 string Definition: RelatedPerson.identifier:nhsNumber
Value Set:
.... LN/76435-7 Hospital Number (Medical Record Number), if known 0..1 string Definition: RelatedPerson.identifier:MedicalRecordNumber
Value Set:
.... NOS/RelatedIndividual-patient This referral's own Patient 1..1 reference Definition: RelatedPerson.patient
Value Set:
..... NOS/RelatedIndividual-patient-designNote The same Patient as Genetic Clinical Referral's own Patient group. When Role = Consultand, that Patient is the proband and this group names a relative of theirs - the usual case for this Questionnaire. When Role = Proband, that Patient is instead a family member, and this group names the original proband - the same reversal WGS Local Test Order's NOS/Proband uses on a lab order. 0..1 display Value Set:

doco Documentation for this format

Options Sets

Answer options for NOS/RelatedIndividualRole

  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#RoleConsultand
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#RoleProband

Profile: Questionnaire

Related Individual (NK1)

Generalised from this Questionnaire's original Consultand-only shape to match NW Genomic General Ask At Order Questions' own Related Individual (NK1) group - see Role below for what distinguishes a Consultand from a Proband here.

  • linkId: NOS/RelatedIndividual-designNote
  • Answers:

Role*

Name*

Relationship to Proband*

Real examples in this IG currently code this with HL7 v3 RoleCode (e.g. MTH "mother") rather than UKCore-PersonRelationshipType - see RelatedPerson-MotherCerseiLondon. When Role = Proband, this is still the family member's relationship to the proband (e.g. the family member is the proband's MTH "mother"), the same direction as when Role = Consultand.

  • linkId: HL7/NK1-3-designNote
  • Answers:

Administrative Sex

Date of Birth

NHS Number (if known)

Hospital Number (Medical Record Number), if known

This referral's own Patient*

The same Patient as Genetic Clinical Referral's own Patient group. When Role = Consultand, that Patient is the proband and this group names a relative of theirs - the usual case for this Questionnaire. When Role = Proband, that Patient is instead a family member, and this group names the original proband - the same reversal WGS Local Test Order's NOS/Proband uses on a lab order.

  • linkId: NOS/RelatedIndividual-patient-designNote
  • Answers:

Profile: Questionnaire

LinkIDDescription & Constraintsdoco
.. NOS/RelatedIndividual Definition: RelatedPerson
Value Set:
... NOS/RelatedIndividual-designNote Value Set:
... NOS/RelatedIndividualRole Value Set:
Options: 2 options
... HL7/NK1-2 Definition: RelatedPerson.name
Value Set:
... HL7/NK1-3 Definition: RelatedPerson.relationship
Value Set: UK Core Person Relationship Type
.... HL7/NK1-3-designNote Value Set:
... HL7/NK1.15 Definition: RelatedPerson.gender
Value Set: AdministrativeGender
... HL7/NK1-16 Definition: RelatedPerson.birthDate
Value Set:
... LN/89061-6 Definition: RelatedPerson.identifier:nhsNumber
Value Set:
... LN/76435-7 Definition: RelatedPerson.identifier:MedicalRecordNumber
Value Set:
... NOS/RelatedIndividual-patient Definition: RelatedPerson.patient
Value Set:
.... NOS/RelatedIndividual-patient-designNote Value Set:

doco Documentation for this format

Test this Questionnaire

Try this questionnaire out:

Responses for this Questionnaire

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