<derivedFrom value="https://fhir.nwgenomics.nhs.uk/Questionnaire/GeneticClinicalReferral"> <extension url="http://hl7.org/fhir/StructureDefinition/questionnaire-derivationType"> <valueCoding> <system value="http://hl7.org/fhir/questionnaire-derivationType"/> <code value="extends"/> </valueCoding> </extension> </derivedFrom> <status value="draft"/> <date value="2026-09-20T05:53:36+00:00"/> <publisher value="NHS North West Genomics"/> <contact> <telecom> <system value="url"/> <value value="https://www.nwgenomics.nhs.uk/contact-us"/> </telecom> </contact> <description value="**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."/> <jurisdiction> <coding> <system value="urn:iso:std:iso:3166"/> <code value="GB"/> <display value="United Kingdom of Great Britain and Northern Ireland"/> </coding> </jurisdiction> <item> <linkId value="NOS/RelatedIndividual"/> <definition value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson"/> <text value="Related Individual (NK1)"/> <type value="group"/> <repeats value="true"/> <item> <extension url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl"> <valueCodeableConcept> <coding> <system value="http://hl7.org/fhir/questionnaire-item-control"/> <code value="help"/> </coding> </valueCodeableConcept> </extension> <linkId value="NOS/RelatedIndividual-designNote"/> <text value="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."/> <type value="display"/> </item> <item> <linkId value="NOS/RelatedIndividualRole"/> <code> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/> <code value="RelatedIndividualRole"/> </code> <text value="Role"/> <type value="choice"/> <required value="true"/> <answerOption> <valueCoding> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/> <code value="RoleConsultand"/> </valueCoding> </answerOption> <answerOption> <valueCoding> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/> <code value="RoleProband"/> </valueCoding> </answerOption> </item> <item> <linkId value="HL7/NK1-2"/> <definition value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.name"/> <text value="Name"/> <type value="string"/> <required value="true"/> </item> <item> <linkId value="HL7/NK1-3"/> <definition value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.relationship"/> <text value="Relationship to Proband"/> <type value="choice"/> <required value="true"/> <answerValueSet value="https://fhir.hl7.org.uk/ValueSet/UKCore-PersonRelationshipType"/> <item> <extension url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl"> <valueCodeableConcept> <coding> <system value="http://hl7.org/fhir/questionnaire-item-control"/> <code value="help"/> </coding> </valueCodeableConcept> </extension> <linkId value="HL7/NK1-3-designNote"/> <text value="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."/> <type value="display"/> </item> </item> <item> <linkId value="HL7/NK1.15"/> <definition value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.gender"/> <text value="Administrative Sex"/> <type value="choice"/> <answerValueSet value="http://hl7.org/fhir/ValueSet/administrative-gender"/> </item> <item> <linkId value="HL7/NK1-16"/> <definition value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.birthDate"/> <text value="Date of Birth"/> <type value="date"/> </item> <item> <linkId value="LN/89061-6"/> <definition value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.identifier:nhsNumber"/> <code> <system value="http://loinc.org"/> <code value="89061-6"/> </code> <text value="NHS Number (if known)"/> <type value="string"/> <required value="false"/> </item> <item> <linkId value="LN/76435-7"/> <definition value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.identifier:MedicalRecordNumber"/> <code> <system value="http://loinc.org"/> <code value="76435-7"/> </code> <text value="Hospital Number (Medical Record Number), if known"/> <type value="string"/> <required value="false"/> </item> <item> <extension url="http://hl7.org/fhir/StructureDefinition/questionnaire-referenceProfile"> <valueCanonical value="http://hl7.org/fhir/StructureDefinition/Patient"/> </extension> <linkId value="NOS/RelatedIndividual-patient"/> <definition value="http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.patient"/> <text value="This referral's own Patient"/> <type value="reference"/> <required value="true"/> <item> <extension url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl"> <valueCodeableConcept> <coding> <system value="http://hl7.org/fhir/questionnaire-item-control"/> <code value="help"/> </coding> </valueCodeableConcept> </extension> <linkId value="NOS/RelatedIndividual-patient-designNote"/> <text value="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."/> <type value="display"/> </item> </item> </item> </Questionnaire>

Generated Narrative: Questionnaire GeneticReferralConsultand

Structure

Options Sets

Answer options for NOS/RelatedIndividualRole