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Questionnaire: WGS Test Additional Ask At Order Entry Questions

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

Test Specific Additional Ask At Order Entry Questions for Whole Genome Sequencing (WGS) orders - used alongside the common core order form and Ask At Order Entry Questions Common, rather than instead of it - see Order Entry Questions. A WGS order therefore combines three Questionnaires, not the usual two.

Split out of Genomic General Ask At Order Entry: 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.

Questions Summary

Diagnostic Genomics

Used alongside Genomic Test Order (the common core) and Ask At Order Entry Questions Common for Whole Genome Sequencing orders specifically - see Order Entry Questions. A WGS order therefore combines three Questionnaires, not the usual two.

Used for the WGS tests within Rare and Inherited Disease Test Codes - i.e. Rare and Inherited Disease WGS, identified via test-method = WGS on Genomic Test Code, rather than one fixed code.

Name Code System Answer ValueSet Cardinality HL7 v2 OML_O21 Message OBX-2 Value Type HL7 FHIR Resource (Message + RESTful)
WGS participant type? NWGMSA WGSParticipantTypeProband / WGSParticipantTypeFamilyMember Proband/Family Member 1..1 OBX CE Observation.valueCodeableConcept
ROD attached or to follow NWGMSA RODToFollow Yes/No/Unknown 0..1 OBX CE Observation.valueCodeableConcept
Related Individual (NK1)     0..* NK1   RelatedPerson
- Role (Consultand or Proband) NWGMSA RelatedIndividualRole   1..1   CE n/a (discriminator only)
- Name     1..1 NK1-2 XPN RelatedPerson.name
- Relationship UKCore-PersonRelationshipType   1..1 NK1-3 CE RelatedPerson.relationship
- Administrative Sex AdministrativeGender   0..1 NK1.15 CE RelatedPerson.gender
- Date of Birth     0..1 NK1-16 DT RelatedPerson.birthDate
- NHS Number (if known) LOINC 89061-6   0..1 NK1-33 CX RelatedPerson.identifier:nhsNumber
- Hospital Number (if known) LOINC 76435-7   0..1 NK1-33 CX RelatedPerson.identifier:MedicalRecordNumber
- This order's own Patient     1..1     RelatedPerson.patient

WGS participant type states which role this order's own Patient plays in the family study (Proband or Family Member) - distinct from, and complementary to, Related Individual's own Role, which describes the named relative's role (Consultand or Proband) relative to this order's Patient, not the Patient's own role directly. Give particular attention to both when the order's own Patient is a baby or fetus, not the person the family history is actually about - the order's own Patient is expected to be the baby/fetus, and the mother is named as the Related Individual (Role = Consultand, Relationship = mother), not the other way round. See WGS Local Test Order's own NOS/WGSPathway item for a related but distinct four-value field (WGS pathway + participant type combined) used by that specific local paper form, not this generic path.

This Questionnaire was split out of Ask At Order Entry Questions Common: Related Individual and Record of Discussion attached or to follow are only genuinely relevant to WGS orders, not every order/test type that Questionnaire covers - see that Questionnaire's own Guidance by Order Type section. A real NHS Trust WGS order-entry screen confirms Record of Discussion is specifically required "if requesting whole genome sequencing or rapid whole genome sequencing (R14)", and surfaces WGS participant type as a required field with no prior equivalent anywhere in this IG.

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. Questionnaire https://fhir.nwgenomics.nhs.uk/Questionnaire/WGSTestAdditionalAskAtOrderQuestions#2.2.0
... AskAtOrderEntry Ask At Order Entry Questions 0..1 group Value Set:
.... NOS/WGSParticipantType WGS participant type? 1..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
..... NOS/WGSParticipantType-designNote States 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..1 display Value Set:
.... NOS/RODToFollow ROD attached or to follow 0..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
..... NOS/RODToFollow-designNote Moved 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..1 display Value Set:
.... NOS/RelatedIndividual Related Individual (NK1) 0..* group Definition: RelatedPerson
Value Set:
..... NOS/RelatedIndividual-designNote Moved 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..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 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 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 order's own Patient 1..1 reference Definition: RelatedPerson.patient
Value Set:
...... NOS/RelatedIndividual-patient-designNote 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. 0..1 display Value Set:

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

Profile: Questionnaire

Ask At Order Entry Questions

  • linkId: AskAtOrderEntry
  • Answers:

WGS participant type?*

States 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.

  • linkId: NOS/WGSParticipantType-designNote
  • Answers:

ROD attached or to follow

Moved 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.

  • linkId: NOS/RODToFollow-designNote
  • Answers:

Related Individual (NK1)

Moved 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).

  • linkId: NOS/RelatedIndividual-designNote
  • Answers:

Role*

Name*

Relationship*

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.

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

Administrative Sex

Date of Birth

NHS Number (if known)

Hospital Number (Medical Record Number), if known

This order's own Patient*

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.

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

Profile: Questionnaire

LinkIDDescription & Constraintsdoco
.. AskAtOrderEntry Value Set:
... NOS/WGSParticipantType Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
.... NOS/WGSParticipantType-designNote Value Set:
... NOS/RODToFollow Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
.... NOS/RODToFollow-designNote Value Set:
... 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.