NHS North West Genomics
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NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Questionnaire: Rare Disease Genomic Testing Ask At Order Entry Questions

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

For analysis purposes only - not an active or planned project.

Ask At Order Entry Questions for the NW GLH paper Genomic Testing Request Form - Rare Disease (DOC4900), the generic Rare Disease paper order form, used alongside the common core order form - see Order Entry Questions. This form's own Test Request Details section (R code, clinical details) already maps directly onto the common core's Test Request group, so this Questionnaire only carries the additional Clinical Utility and targeted familial testing detail the paper form asks for.

This Questionnaire is compared against Genomic Test Order - see NW GLH Paper Test Request Forms - but does not yet declare derivedFrom/extends it: unlike the Ask At Order Entry Questionnaires that originated from an existing digital order-entry screen (see Order Entry Questions), this one hasn't yet been processed into the specific electronic Ask At Order Entry shape that relationship implies for use in an actual order. It structures the NW GLH paper Genomic Testing Request Form - Rare Disease (DOC4900), the generic Rare Disease paper order form - see NW Genomics paper test request forms for how this compares to the other paper forms.

Source form: Genomic Testing Request Form - Rare Disease, DOC4900 (DOCX)

Summary

Item Paper Form Field FHIR
Surname/Forename Free text Patient.name
D.O.B./Biological Sex/Gender Identity Free text Patient.birthDate / Patient.gender / not yet mapped
Address/Postcode Free text Patient.address
Ethnicity Coded Patient.extension:ethnicCategory
NHS No/Hospital No Free text Patient.identifier:nhsNumber / Patient.identifier:MedicalRecordNumber
Referring Clinician/Healthcare Professional (Consultant, Hospital/Surgery, Specialty/Department, E-mail/Tel, Requested by/Cc. Report to) Free text PractitionerRole
Clinical utility Patient management / Reproductive decision making / Predictive testing (tick boxes) Observation.valueCodeableConcept, repeating
Targeted familial testing Yes/no + known familial variant/affected relative Observation.valueBoolean / Observation.valueString

This is the closest of the ten paper forms to Genomic Test Order's own common core - its R code, test name and clinical details fields map directly onto the core Test Request group, so this Ask At Order Entry Questionnaire is deliberately thin. No Order Placer Number, Account Number/Hospital Spell Identifier, or clinician professional identifier (GMC/GMP) field is present on the paper form.

Profile: Questionnaire

Structure
LinkIDTextCardinalityTypeDescription & Constraintsdoco
.. **For analysis purposes only - not an active or planned project.** **Ask At Order Entry Questions** for the NW GLH paper **Genomic Testing Request Form - Rare Disease** (DOC4900), the generic Rare Disease paper order form, used alongside the [common core order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). This form's own Test Request Details section (R code, clinical details) already maps directly onto the common core's Test Request group, so this Questionnaire only carries the additional Clinical Utility and targeted familial testing detail the paper form asks for. Questionnaire https://fhir.nwgenomics.nhs.uk/Questionnaire/RareDiseaseGenomicAskAtOrderEntry#2.2.0
... Patient Patient Details 0..1 group Definition: Patient
Value Set:
.... LN/45394-4 Surname 0..1 string Definition: Patient.name.family
Value Set:
.... LN/45392-8 Forename 0..1 string Definition: Patient.name.given
Value Set:
.... LN/21112-8 D.O.B. 0..1 date Definition: Patient.birthDate
Value Set:
.... LN/46098-0 Biological Sex 0..1 choice Definition: Patient.gender
Value Set: AdministrativeGender
.... NOS/GenderIdentity Gender Identity 0..1 string Value Set:
..... NOS/GenderIdentity-designNote No clean FHIR field identified - distinct from Biological Sex on this form's own layout. 0..1 display Value Set:
.... LN/56799-0 Address 0..* string Definition: Patient.address.line
Value Set:
.... LN/45401-7 Postcode 0..1 string Definition: Patient.address.postalCode
Value Set:
.... LN/32624-9 Ethnicity 0..1 choice Definition: Patient.extension:ethnicCategory
Value Set: Ethnicity
.... LN/89061-6 NHS No 0..1 string Definition: Patient.identifier:nhsNumber
Value Set:
.... LN/76435-7 Hospital No 0..1 string Definition: Patient.identifier:MedicalRecordNumber
Value Set:
... HealthcareProfessional Referring Clinician/Healthcare Professional 0..1 group Definition: PractitionerRole
Value Set:
.... LN/18705-4 Consultant/Clinician (in full) 0..1 string Definition: PractitionerRole.practitioner.display
Value Set:
.... HL7/ORC-21 Hospital/Surgery (in full) 0..1 string Definition: PractitionerRole.organization.identifier.value
Value Set:
.... LN/18707-0 Clinical Specialty/Department 0..1 choice Definition: PractitionerRole.specialty.coding.code
Value Set: UK Core Practice Setting Code
.... LN/89058-2 E-mail/Tel 0..1 string Definition: PractitionerRole.telecom.value
Value Set:
.... NOS/RequestedByCcReportTo Requested by/Cc. Report to 0..1 string Value Set:
..... NOS/RequestedByCcReportTo-designNote Same genuinely-additional-person gap identified on the GMS WGS national forms' own Main Contact group and Genomic Test Order - Common Fields We May Have Missed (Copy Report To) - modelled here as free text since this form doesn't break it into separate Name/Department/Phone/Email fields. 0..1 display Value Set:
... AskAtOrderEntry Ask At Order Entry Questions 0..1 group Value Set:
.... NOS/ClinicalUtility Clinical utility 1..* choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
.... NOS/TargetedFamilialTesting Targeted familial testing? 0..1 boolean Definition: Observation.valueBoolean
Value Set:
.... NOS/TargetedFamilialVariant Known familial variant and affected relative 0..1 string Definition: Observation.valueString
Enable When: NOS/TargetedFamilialTesting = true
Value Set:

doco Documentation for this format

Options Sets

Answer options for NOS/ClinicalUtility

  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#ClinicalUtilityPatientManagement
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#ClinicalUtilityReproductiveDecision
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#ClinicalUtilityPredictiveTesting

Profile: Questionnaire

Patient Details

  • linkId: Patient
  • Definition:: Patient
  • Answers:

Surname

Forename

D.O.B.

Biological Sex

Gender Identity

  • linkId: NOS/GenderIdentity
  • Answers:

No clean FHIR field identified - distinct from Biological Sex on this form's own layout.

  • linkId: NOS/GenderIdentity-designNote
  • Answers:

Address

Postcode

Ethnicity

NHS No

Hospital No

Referring Clinician/Healthcare Professional

Consultant/Clinician (in full)

Hospital/Surgery (in full)

Clinical Specialty/Department

E-mail/Tel

Requested by/Cc. Report to

  • linkId: NOS/RequestedByCcReportTo
  • Answers:

Same genuinely-additional-person gap identified on the GMS WGS national forms' own Main Contact group and Genomic Test Order - Common Fields We May Have Missed (Copy Report To) - modelled here as free text since this form doesn't break it into separate Name/Department/Phone/Email fields.

  • linkId: NOS/RequestedByCcReportTo-designNote
  • Answers:

Ask At Order Entry Questions

  • linkId: AskAtOrderEntry
  • Answers:

Clinical utility*

Targeted familial testing?

Known familial variant and affected relative

Profile: Questionnaire

LinkIDDescription & Constraintsdoco
.. Patient Definition: Patient
Value Set:
... LN/45394-4 Definition: Patient.name.family
Value Set:
... LN/45392-8 Definition: Patient.name.given
Value Set:
... LN/21112-8 Definition: Patient.birthDate
Value Set:
... LN/46098-0 Definition: Patient.gender
Value Set: AdministrativeGender
... NOS/GenderIdentity Value Set:
.... NOS/GenderIdentity-designNote Value Set:
... LN/56799-0 Definition: Patient.address.line
Value Set:
... LN/45401-7 Definition: Patient.address.postalCode
Value Set:
... LN/32624-9 Definition: Patient.extension:ethnicCategory
Value Set: Ethnicity
... LN/89061-6 Definition: Patient.identifier:nhsNumber
Value Set:
... LN/76435-7 Definition: Patient.identifier:MedicalRecordNumber
Value Set:
.. HealthcareProfessional Definition: PractitionerRole
Value Set:
... LN/18705-4 Definition: PractitionerRole.practitioner.display
Value Set:
... HL7/ORC-21 Definition: PractitionerRole.organization.identifier.value
Value Set:
... LN/18707-0 Definition: PractitionerRole.specialty.coding.code
Value Set: UK Core Practice Setting Code
... LN/89058-2 Definition: PractitionerRole.telecom.value
Value Set:
... NOS/RequestedByCcReportTo Value Set:
.... NOS/RequestedByCcReportTo-designNote Value Set:
.. AskAtOrderEntry Value Set:
... NOS/ClinicalUtility Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
... NOS/TargetedFamilialTesting Definition: Observation.valueBoolean
Value Set:
... NOS/TargetedFamilialVariant Definition: Observation.valueString
Enable When: Not done yet
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.