{ "resourceType" : "Questionnaire", "id" : "WGSTestAdditionalAskAtOrderQuestions", "meta" : { "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/NWQuestionnaire"] }, "language" : "en", "text" : { "status" : "extensions", "div" : "

Generated Narrative: Questionnaire WGSTestAdditionalAskAtOrderQuestions

Profile: Questionnaire

Structure\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n
LinkIDTextCardinalityTypeDescription & Constraints\"doco\"
\".\"\".\" **Test Specific Additional Ask At Order Entry Questions** for Whole Genome\nSequencing (WGS) orders - used *alongside* the [common core order\nform](Questionnaire-GenomicTestOrder.html) **and** [Ask At Order Entry\nQuestions Common](Questionnaire-GenomicGeneralAskAtOrderEntry.html), rather\nthan instead of it - see [Order Entry\nQuestions](Questionnaire-GenomicTestOrder.html#order-entry-questions). A WGS\norder therefore combines **three** Questionnaires, not the usual two.\n\nSplit out of [Genomic General Ask At Order\nEntry](Questionnaire-GenomicGeneralAskAtOrderEntry.html): `Related Individual\n(NK1)` and `Record of Discussion attached or to follow` are only genuinely\nrelevant to WGS orders, not every order/test type that Questionnaire covers\n(Cancer, WGS and Rare and Inherited Disease generally) - see that\nQuestionnaire's own Guidance by Order Type section. `WGS participant type`\nis new here, surfaced by a real NHS Trust WGS order-entry screen with no\nprior equivalent anywhere in this IG.Questionnairehttps://fhir.nwgenomics.nhs.uk/Questionnaire/WGSTestAdditionalAskAtOrderQuestions#2.2.0
\".\"\".\"\".\" AskAtOrderEntryAsk At Order Entry Questions0..1group
\".\"\".\"\".\"\".\" NOS/WGSParticipantTypeWGS participant type?1..1choiceDefinition: Observation.valueCodeableConcept
Options: 2 options
\".\"\".\"\".\"\".\"\".\" NOS/WGSParticipantType-designNoteStates which role *this order's own Patient* plays in the family\nstudy - distinct from, and complementary to, `Related Individual`'s\nown **Role** item below: that item describes the *named relative's*\nrole (Consultand or Proband) relative to this order's Patient, not a\ndirect statement about the Patient's own role. Also distinct from\n[WGS Local Test Order](Questionnaire-WGSLocalTestOrderAskAtOrderEntry.html)'s\nown `NOS/WGSPathway` item, which conflates this same Proband/Family\nMember distinction with the WGS pathway (Rare Disease vs Cancer) into\na single four-value field for that specific local paper form - this\nitem is deliberately just the participant-type half of that, for use\nalongside the generic order path. Surfaced by a real NHS Trust WGS\norder-entry screen as a required field, with no prior equivalent\nanywhere in this IG.0..1display
\".\"\".\"\".\"\".\" NOS/RODToFollowROD attached or to follow0..1choiceDefinition: Observation.valueCodeableConcept
Options: 3 options
\".\"\".\"\".\"\".\"\".\" NOS/RODToFollow-designNoteMoved here from [Genomic General Ask At Order\nEntry](Questionnaire-GenomicGeneralAskAtOrderEntry.html): a real NHS\nTrust WGS order-entry screen requires this specifically "if requesting\nwhole genome sequencing or rapid whole genome sequencing (R14)",\nconfirming it as a WGS-specific requirement in practice rather than a\ngeneric one.0..1display
\".\"\".\"\".\"\".\" NOS/RelatedIndividualRelated Individual (NK1)0..*groupDefinition: RelatedPerson
\".\"\".\"\".\"\".\"\".\" NOS/RelatedIndividual-designNoteMoved here from [Genomic General Ask At Order\nEntry](Questionnaire-GenomicGeneralAskAtOrderEntry.html), where it was\noriginally generalised from Genetic Clinical Referral - Consultand\n(RelatedPerson): the same NK1-shaped RelatedPerson group, but not\nalways a consultand. Role below states which - a **Consultand** is a\nrelative referenced from this order's own Patient (who is the\nproband), the usual case; a **Proband** is the opposite direction -\nused when this order's own Patient is actually a family member (e.g.\nWGS Local Test Order's Family Member pathway), and this group instead\nnames the original proband the family member is being tested\nalongside. Repeats, since an order can name more than one related\nindividual (e.g. several consultands, or occasionally both a proband\nreference and a consultand on the same order).0..1display
\".\"\".\"\".\"\".\"\".\" NOS/RelatedIndividualRoleRole1..1choiceOptions: 2 options
\".\"\".\"\".\"\".\"\".\" HL7/NK1-2Name1..1stringDefinition: RelatedPerson.name
\".\"\".\"\".\"\".\"\".\" HL7/NK1-3Relationship1..1choiceDefinition: RelatedPerson.relationship
Value Set: UK Core Person Relationship Type
\".\"\".\"\".\"\".\"\".\"\".\" HL7/NK1-3-designNoteReal 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 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..1display
\".\"\".\"\".\"\".\"\".\" HL7/NK1.15Administrative Sex0..1choiceDefinition: RelatedPerson.gender
Value Set: AdministrativeGender
\".\"\".\"\".\"\".\"\".\" HL7/NK1-16Date of Birth0..1dateDefinition: RelatedPerson.birthDate
\".\"\".\"\".\"\".\"\".\" LN/89061-6NHS Number (if known)0..1stringDefinition: RelatedPerson.identifier:nhsNumber
\".\"\".\"\".\"\".\"\".\" LN/76435-7Hospital Number (Medical Record Number), if known0..1stringDefinition: RelatedPerson.identifier:MedicalRecordNumber
\".\"\".\"\".\"\".\"\".\" NOS/RelatedIndividual-patientThis order's own Patient1..1referenceDefinition: RelatedPerson.patient
\".\"\".\"\".\"\".\"\".\"\".\" NOS/RelatedIndividual-patient-designNoteThe same Patient as this order's own common-core Patient group. When Role = Consultand, that Patient is the proband and this group names a relative of theirs. When Role = Proband, that Patient is instead a family member whose specimen this particular order carries, and this group names the original proband instead - see WGS Local Test Order Ask At Order Entry's Family Member pathway.0..1display

\"doco\" Documentation for this format

Options Sets

Answer options for NOS/WGSParticipantType

Answer options for NOS/RODToFollow

Answer options for NOS/RelatedIndividualRole

" }, "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/artifact-versionAlgorithm", "valueCoding" : { "system" : "http://hl7.org/fhir/version-algorithm", "code" : "semver" } }], "url" : "https://fhir.nwgenomics.nhs.uk/Questionnaire/WGSTestAdditionalAskAtOrderQuestions", "version" : "2.2.0", "title" : "WGS Test Additional Ask At Order Entry Questions", "derivedFrom" : ["https://fhir.nwgenomics.nhs.uk/Questionnaire/GenomicTestOrder|2.2.0"], "_derivedFrom" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-derivationType", "valueCoding" : { "system" : "http://hl7.org/fhir/questionnaire-derivationType", "code" : "extends" } }] }], "status" : "active", "date" : "2026-09-20T05:53:36+00:00", "publisher" : "NHS North West Genomics", "contact" : [{ "telecom" : [{ "system" : "url", "value" : "https://www.nwgenomics.nhs.uk/contact-us" }] }], "description" : "**Test Specific Additional Ask At Order Entry Questions** for Whole Genome\nSequencing (WGS) orders - used *alongside* the [common core order\nform](Questionnaire-GenomicTestOrder.html) **and** [Ask At Order Entry\nQuestions Common](Questionnaire-GenomicGeneralAskAtOrderEntry.html), rather\nthan instead of it - see [Order Entry\nQuestions](Questionnaire-GenomicTestOrder.html#order-entry-questions). A WGS\norder therefore combines **three** Questionnaires, not the usual two.\n\nSplit out of [Genomic General Ask At Order\nEntry](Questionnaire-GenomicGeneralAskAtOrderEntry.html): `Related Individual\n(NK1)` and `Record of Discussion attached or to follow` are only genuinely\nrelevant to WGS orders, not every order/test type that Questionnaire covers\n(Cancer, WGS and Rare and Inherited Disease generally) - see that\nQuestionnaire's own Guidance by Order Type section. `WGS participant type`\nis new here, surfaced by a real NHS Trust WGS order-entry screen with no\nprior equivalent anywhere in this IG.", "jurisdiction" : [{ "coding" : [{ "system" : "urn:iso:std:iso:3166", "code" : "GB", "display" : "United Kingdom of Great Britain and Northern Ireland" }] }], "item" : [{ "linkId" : "AskAtOrderEntry", "text" : "Ask At Order Entry Questions", "type" : "group", "item" : [{ "linkId" : "NOS/WGSParticipantType", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept", "text" : "WGS participant type?", "type" : "choice", "required" : true, "answerOption" : [{ "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "WGSParticipantTypeProband" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "WGSParticipantTypeFamilyMember" } }], "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "NOS/WGSParticipantType-designNote", "text" : "States which role *this order's own Patient* plays in the family\nstudy - distinct from, and complementary to, `Related Individual`'s\nown **Role** item below: that item describes the *named relative's*\nrole (Consultand or Proband) relative to this order's Patient, not a\ndirect statement about the Patient's own role. Also distinct from\n[WGS Local Test Order](Questionnaire-WGSLocalTestOrderAskAtOrderEntry.html)'s\nown `NOS/WGSPathway` item, which conflates this same Proband/Family\nMember distinction with the WGS pathway (Rare Disease vs Cancer) into\na single four-value field for that specific local paper form - this\nitem is deliberately just the participant-type half of that, for use\nalongside the generic order path. Surfaced by a real NHS Trust WGS\norder-entry screen as a required field, with no prior equivalent\nanywhere in this IG.", "type" : "display" }] }, { "linkId" : "NOS/RODToFollow", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "RODToFollow" }], "text" : "ROD attached or to follow", "type" : "choice", "answerOption" : [{ "valueCoding" : { "system" : "http://loinc.org", "code" : "LA33-6", "display" : "Yes" } }, { "valueCoding" : { "system" : "http://loinc.org", "code" : "LA32-8", "display" : "No" } }, { "valueCoding" : { "system" : "http://loinc.org", "code" : "LA4489-6", "display" : "Unknown" } }], "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "NOS/RODToFollow-designNote", "text" : "Moved here from [Genomic General Ask At Order\nEntry](Questionnaire-GenomicGeneralAskAtOrderEntry.html): a real NHS\nTrust WGS order-entry screen requires this specifically \"if requesting\nwhole genome sequencing or rapid whole genome sequencing (R14)\",\nconfirming it as a WGS-specific requirement in practice rather than a\ngeneric one.", "type" : "display" }] }, { "linkId" : "NOS/RelatedIndividual", "definition" : "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson", "text" : "Related Individual (NK1)", "type" : "group", "repeats" : true, "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "NOS/RelatedIndividual-designNote", "text" : "Moved here from [Genomic General Ask At Order\nEntry](Questionnaire-GenomicGeneralAskAtOrderEntry.html), where it was\noriginally generalised from Genetic Clinical Referral - Consultand\n(RelatedPerson): the same NK1-shaped RelatedPerson group, but not\nalways a consultand. Role below states which - a **Consultand** is a\nrelative referenced from this order's own Patient (who is the\nproband), the usual case; a **Proband** is the opposite direction -\nused when this order's own Patient is actually a family member (e.g.\nWGS Local Test Order's Family Member pathway), and this group instead\nnames the original proband the family member is being tested\nalongside. Repeats, since an order can name more than one related\nindividual (e.g. several consultands, or occasionally both a proband\nreference and a consultand on the same order).", "type" : "display" }, { "linkId" : "NOS/RelatedIndividualRole", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "RelatedIndividualRole" }], "text" : "Role", "type" : "choice", "required" : true, "answerOption" : [{ "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "RoleConsultand" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "RoleProband" } }] }, { "linkId" : "HL7/NK1-2", "definition" : "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.name", "text" : "Name", "type" : "string", "required" : true }, { "linkId" : "HL7/NK1-3", "definition" : "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.relationship", "text" : "Relationship", "type" : "choice", "required" : true, "answerValueSet" : "https://fhir.hl7.org.uk/ValueSet/UKCore-PersonRelationshipType", "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "HL7/NK1-3-designNote", "text" : "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 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" : "display" }] }, { "linkId" : "HL7/NK1.15", "definition" : "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.gender", "text" : "Administrative Sex", "type" : "choice", "answerValueSet" : "http://hl7.org/fhir/ValueSet/administrative-gender" }, { "linkId" : "HL7/NK1-16", "definition" : "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.birthDate", "text" : "Date of Birth", "type" : "date" }, { "linkId" : "LN/89061-6", "definition" : "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.identifier:nhsNumber", "code" : [{ "system" : "http://loinc.org", "code" : "89061-6" }], "text" : "NHS Number (if known)", "type" : "string", "required" : false }, { "linkId" : "LN/76435-7", "definition" : "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.identifier:MedicalRecordNumber", "code" : [{ "system" : "http://loinc.org", "code" : "76435-7" }], "text" : "Hospital Number (Medical Record Number), if known", "type" : "string", "required" : false }, { "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-referenceProfile", "valueCanonical" : "http://hl7.org/fhir/StructureDefinition/Patient" }], "linkId" : "NOS/RelatedIndividual-patient", "definition" : "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.patient", "text" : "This order's own Patient", "type" : "reference", "required" : true, "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "NOS/RelatedIndividual-patient-designNote", "text" : "The same Patient as this order's own common-core Patient group. When Role = Consultand, that Patient is the proband and this group names a relative of theirs. When Role = Proband, that Patient is instead a family member whose specimen this particular order carries, and this group names the original proband instead - see WGS Local Test Order Ask At Order Entry's Family Member pathway.", "type" : "display" }] }] }] }] }