FHIR © HL7.org  |  FHIRsmith 4.0.1  |  Server Home  |  XIG Home  |  XIG Stats  | 

FHIR IG analytics

Packagefhir.nwgenomics.nhs.uk
Resource TypeQuestionnaire
IdQuestionnaire-WGSTestAdditionalAskAtOrderQuestions.json
FHIR VersionR4
Sourcehttps://build.fhir.org/ig/nw-gmsa/nw-gmsa.github.com/Questionnaire-WGSTestAdditionalAskAtOrderQuestions.html
URLhttps://fhir.nwgenomics.nhs.uk/Questionnaire/WGSTestAdditionalAskAtOrderQuestions
Version2.2.0
Statusactive
Date2026-09-27T08:17:18+00:00
TitleWGS Test Additional Ask At Order Entry Questions
Realmus
Authorityhl7
Description**Test Specific Additional Ask At Order Entry Questions** for Whole Genome Sequencing (WGS) orders - used *alongside* the [common core order form](Questionnaire-GenomicTestOrder.html) **and** [Ask At Order Entry Questions Common](Questionnaire-GenomicGeneralAskAtOrderEntry.html), rather than instead of it - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). A WGS order therefore combines **three** Questionnaires, not the usual two. Split out of [Genomic General Ask At Order Entry](Questionnaire-GenomicGeneralAskAtOrderEntry.html): `Related Individual (NK1)` and `Record of Discussion attached or to follow` are only genuinely relevant to WGS orders, not every order/test type that Questionnaire covers (Cancer, WGS and Rare and Inherited Disease generally) - see that Questionnaire's own Guidance by Order Type section. `WGS participant type` is new here, surfaced by a real NHS Trust WGS order-entry screen with no prior equivalent anywhere in this IG.

Resources that use this resource

No resources found


Resources that this resource uses

No resources found


Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: Questionnaire WGSTestAdditionalAskAtOrderQuestions

Profile: Questionnaire

Structure
LinkIDTextCardinalityTypeDescription & Constraintsdoco
.. **Test Specific Additional Ask At Order Entry Questions** for Whole Genome Sequencing (WGS) orders - used *alongside* the [common core order form](Questionnaire-GenomicTestOrder.html) **and** [Ask At Order Entry Questions Common](Questionnaire-GenomicGeneralAskAtOrderEntry.html), rather than instead of it - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). A WGS order therefore combines **three** Questionnaires, not the usual two. Split out of [Genomic General Ask At Order Entry](Questionnaire-GenomicGeneralAskAtOrderEntry.html): `Related Individual (NK1)` and `Record of Discussion attached or to follow` are only genuinely relevant to WGS orders, not every order/test type that Questionnaire covers (Cancer, WGS and Rare and Inherited Disease generally) - see that Questionnaire's own Guidance by Order Type section. `WGS participant type` is new here, surfaced by a real NHS Trust WGS order-entry screen with no prior 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 study - distinct from, and complementary to, `Related Individual`'s own **Role** item below: that item describes the *named relative's* role (Consultand or Proband) relative to this order's Patient, not a direct statement about the Patient's own role. Also distinct from [WGS Local Test Order](Questionnaire-WGSLocalTestOrderAskAtOrderEntry.html)'s own `NOS/WGSPathway` item, which conflates this same Proband/Family Member distinction with the WGS pathway (Rare Disease vs Cancer) into a single four-value field for that specific local paper form - this item is deliberately just the participant-type half of that, for use alongside the generic order path. Surfaced by a real NHS Trust WGS order-entry screen as a required field, with no prior equivalent anywhere 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 Entry](Questionnaire-GenomicGeneralAskAtOrderEntry.html): a real NHS Trust WGS order-entry screen requires this specifically "if requesting whole genome sequencing or rapid whole genome sequencing (R14)", confirming it as a WGS-specific requirement in practice rather than a generic one.0..1display
.... NOS/RelatedIndividualRelated Individual (NK1)0..*groupDefinition: RelatedPerson
..... NOS/RelatedIndividual-designNoteMoved here from [Genomic General Ask At Order Entry](Questionnaire-GenomicGeneralAskAtOrderEntry.html), where it was originally generalised from Genetic Clinical Referral - Consultand (RelatedPerson): the same NK1-shaped RelatedPerson group, but not always a consultand. Role below states which - a **Consultand** is a relative referenced from this order's own Patient (who is the proband), the usual case; a **Proband** is the opposite direction - used when this order's own Patient is actually a family member (e.g. WGS Local Test Order's Family Member pathway), and this group instead names the original proband the family member is being tested alongside. Repeats, since an order can name more than one related individual (e.g. several consultands, or occasionally both a proband reference 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

  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#WGSParticipantTypeProband
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#WGSParticipantTypeFamilyMember

Answer options for NOS/RODToFollow

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")
  • http://loinc.org#LA4489-6 ("Unknown")

Answer options for NOS/RelatedIndividualRole

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

Source1

{
  "resourceType": "Questionnaire",
  "id": "WGSTestAdditionalAskAtOrderQuestions",
  "meta": {
    "profile": [
      "https://fhir.nwgenomics.nhs.uk/StructureDefinition/NWQuestionnaire"
    ]
  },
  "text": {
    "status": "extensions",
    "div": "<!-- snip (see above) -->"
  },
  "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": "2026-09-27T08:17:18+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"
                }
              ]
            }
          ]
        }
      ]
    }
  ]
}