NHS North West Genomics
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Questionnaire: GMS WGS Rare Disease

Official URL: https://fhir.nwgenomics.nhs.uk/Questionnaire/GMSWGSRareDisease 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 NHS Genomic Medicine Service (GMS) Whole Genome Sequencing (WGS) Test Request - Rare Disease form (the national GMS-branded form, not NW GLH-specific), used alongside the common core order form - see Order Entry Questions. This form has no Whole Genome Sequencing Test Category in the common core's Test Code branches, so its own Test Directory Clinical Indication item fills that gap directly. HPO (Human Phenotype Ontology) terms are mandatory on this form - WGS analysis cannot start without at least one - see Genomic Test Order - Common Fields We May Have Missed.

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 NHS Genomic Medicine Service (GMS) Whole Genome Sequencing (WGS) Test Request - Rare Disease form - the national GMS-branded form, distinct from the NW GLH-specific WGS Local Test Order form - see NW Genomics paper test request forms for how this compares to the other paper forms.

Source form: GMS WGS Test Request Form - Rare Disease, V2.0 April 2026 (PDF)

Summary

Item Paper Form Field FHIR
Proband's first/last name Free text Patient.name
Date of birth dd/mm/yyyy Patient.birthDate
Hospital number Free text Patient.identifier:MedicalRecordNumber
Sex assigned at birth Male/Female Patient.gender
Postcode Free text Patient.address.postalCode
NHS number Free text Patient.identifier:nhsNumber
Ethnicity Coded Patient.extension:ethnicCategory
Responsible clinician / consultant Name/Department address/Phone/Email PractitionerRole
Requesting organisation / GMS laboratory Two organisation fields PractitionerRole.organization / ServiceRequest.performer
Family test type Singleton/Trio/Other (with number) Observation.valueCodeableConcept
Reason NHS Number not available Free text Patient.identifier:nhsNumber.extension
Reason for urgency Free text ServiceRequest.note
Reason for diagnostic test Patient management/reproductive decision/predictive testing (tick boxes) Observation.valueCodeableConcept, repeating
Record of Discussion Attached/to follow Observation.valueCodeableConcept
Test Directory Clinical Indication & code Free text/code ServiceRequest.code
Additional panel(s) Genomics England PanelApp panel name(s), mandatory for R89 Not yet mapped
Proband's age at onset Years/months Condition.onsetAge
Specific rare disease suspected/confirmed Free text Not yet mapped
Life status Alive/Deceased Patient.deceasedBoolean
Family member(s) to be tested Repeating group (name, DOB, sex, NHS number/postcode, life status, status, ethnicity, relationship), each with its own nested Sample sub-group ServiceRequest.supportingInfo -> RelatedPerson, repeating group
HPO Terms Term (offered from a 38-term guide list, real HPO codes, or free text) + Present/Absent/Unknown, repeating, mandatory Condition.code (#open-choice) / Condition.verificationStatus
Main contact Name/department/phone/email, if different from responsible clinician Not yet mapped

This is the richest of the twelve paper forms compared on Genomic Test Order - see Genomic Test Order - Common Fields We May Have Missed for the two candidate common-core additions it surfaces on its own (HPO Terms, Main Contact), and the Family member(s) to be tested row in the table above for how it relates to Genetic Clinical Referral - Consultand. No Order Placer Number, Account Number/Hospital Spell Identifier, or clinician professional identifier (GMC/GMP) field is present on the paper form - the same universal gap as every other paper form compared on this page.

The source PDF's fillable form fields (rather than its plain text) show it hard-codes exactly two family-member slots (FM1_*/FM2_*), each with its own demographic fields and its own matching sample fields further down the form - modelled here as a single repeating Family Members group (not capped at two) with a nested Sample sub-group per repetition, rather than two hard-coded, disconnected sections. One field name from the PDF - FM1_status/FM2_status, alongside but distinct from FM1_deceased - has no stated purpose on the form's own visible labels; it is carried through as free text pending confirmation of what it means.

Practical Issues: One Form, Multiple Orders

Unlike every other paper form in this comparison, a single completed copy of this form names several people - the proband plus, for a Duo/Trio or larger family test, one or more repeating Family member(s) to be tested rows - each of whom is (or becomes) their own Patient with their own specimen. Modelled strictly, this Questionnaire's answers don't decompose into one order, but into one order per person tested. That composite shape is worth flagging as a practical implementation problem in its own right:

  • EPR order entry is built around a single patient context. Most Electronic Patient Record systems raise an order from within one patient's own record - there is no natural place to enter "and also order this same test for these other two people" on the same order screen. A family test referred this way would most likely need raising as separate orders per person within the EPR already, with this form's family-level fields (Family test type, clinical justification, HPO terms) either repeated on each or attached once and cross-referenced.
  • LIMS will very likely only accept one patient and one specimen per order. Even if an EPR could somehow raise a single composite order for multiple people, the receiving Laboratory Information Management System is unlikely to have a concept of "one order, several patients/specimens”
    • it needs one order per patient/specimen to allocate accessioning, worklists and results against. Something upstream of the LIMS (the ordering system, or an integration engine) would need to split this form's answers into per-person orders before they could reach it.
  • WGS Local Test Order already models what one decomposed order looks like. Its own Family Member pathway - one order per specimen, whose own common-core Patient group is the family member being tested, with a NOS/Proband (NK1-shaped RelatedPerson) group linking back to the proband's separate order - is a concrete, existing answer to exactly this decomposition problem. A Family Members repetition here naming a relative's specimen could plausibly decompose into an order shaped exactly like that Family Member pathway, rather than needing a new pattern designed from scratch - see WGS Local Test Order - Relationship to GMS WGS Rare Disease.

Profile: Questionnaire

Structure
LinkIDTextCardinalityTypeDescription & Constraintsdoco
.. **For analysis purposes only - not an active or planned project.** **Ask At Order Entry Questions** for the **NHS Genomic Medicine Service (GMS) Whole Genome Sequencing (WGS) Test Request - Rare Disease** form (the national GMS-branded form, not NW GLH-specific), used alongside the [common core order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). This form has no Whole Genome Sequencing Test Category in the common core's Test Code branches, so its own Test Directory Clinical Indication item fills that gap directly. **HPO (Human Phenotype Ontology) terms are mandatory on this form** - WGS analysis cannot start without at least one - see [Genomic Test Order - Common Fields We May Have Missed](Questionnaire-GenomicTestOrder.html#common-fields-we-may-have-missed). Questionnaire https://fhir.nwgenomics.nhs.uk/Questionnaire/GMSWGSRareDisease#2.2.0
... Patient Patient 0..1 group Definition: Patient
Value Set:
.... LN/45392-8 Proband's first name 1..1 string Definition: Patient.name.given
Value Set:
.... LN/45394-4 Proband's last name 1..1 string Definition: Patient.name.family
Value Set:
.... LN/21112-8 Date of birth (dd/mm/yyyy) 1..1 date Definition: Patient.birthDate
Value Set:
.... LN/76435-7 Hospital number 0..1 string Definition: Patient.identifier:MedicalRecordNumber
Value Set:
.... LN/46098-0 Sex assigned at birth 0..1 choice Definition: Patient.gender
Value Set: AdministrativeGender
.... LN/45401-7 Postcode 0..1 string Definition: Patient.address.postalCode
Value Set:
.... LN/89061-6 NHS number 0..1 string Definition: Patient.identifier:nhsNumber
Value Set:
..... LN/89061-6-designNote See NOS/ReasonNHSNumberNotAvailable in Ask At Order Entry Questions below if not available. 0..1 display Value Set:
.... LN/32624-9 Ethnicity 0..1 choice Definition: Patient.extension:ethnicCategory
Value Set: Ethnicity
... HealthcareProfessional Responsible clinician / consultant 0..1 group Definition: PractitionerRole
Value Set:
.... LN/18705-4 Name 0..1 string Definition: PractitionerRole.practitioner.display
Value Set:
.... NOS/DepartmentAddress Department address 0..1 string Definition: PractitionerRole.organization.display
Value Set:
.... LN/81230-5 Phone 0..1 string Definition: PractitionerRole.telecom.value
Value Set:
.... LN/89058-2 Email 0..1 string Definition: PractitionerRole.telecom.value
Value Set:
... AskAtOrderEntry Ask At Order Entry Questions 0..1 group Value Set:
.... HL7/ORC-21-requesting Requesting organisation 0..1 string Definition: PractitionerRole.organization.identifier.value
Value Set:
..... HL7/ORC-21-requesting-designNote Same concept as the common core's own Referring Organisation ODS Code / Ordering Facility (HL7/ORC-21) - kept as its own item here to sit alongside GMS laboratory below. 0..1 display Value Set:
.... NOS/GMSLaboratory GMS laboratory (to receive sample) 0..1 string Definition: ServiceRequest.performer
Value Set:
.... NOS/FamilyTestType Family test 1..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
..... NOS/FamilyTestType-designNote The form's own PDF radio buttons offer Singleton/Trio/Other (with a number), not Duo, since a Duo is presumably covered by 'Other'. 0..1 display Value Set:
..... NOS/FamilyTestOtherNumber Number of family members being tested (if 'Other') 0..1 integer Enable When: NOS/FamilyTestType = Other (NW GMSA Codes#FamilyTestOther)
Value Set:
.... NOS/ReasonNHSNumberNotAvailable Reason NHS Number not available (e.g. patient not eligible, foreign national) 0..1 string Definition: Patient.identifier:nhsNumber.extension
Value Set:
.... NOS/UrgencyReason Reason for urgency, if requesting priority over the standard non-urgent pathway 0..1 string Definition: ServiceRequest.note
Value Set:
..... NOS/UrgencyReason-designNote The Clinical Priority selection itself is the same concept as the common core's own Priority item (LN/82768-3) - only the free-text urgency justification is new here. 0..1 display Value Set:
.... NOS/ReasonForDiagnosticTest Reason for diagnostic test 1..* choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
..... NOS/ReasonForDiagnosticTest-designNote Identical wording and options to Clinical utility on Rare Disease Genomic Testing Ask At Order Entry (NOS/ClinicalUtility, for the NW GLH DOC4900 paper form) - the same three options, reused here rather than re-defined. 0..1 display Value Set:
.... NOS/RODToFollow-gms-rd Record of Discussion (ROD) attached, or to follow 0..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
.... NOS/TestDirectoryClinicalIndication-rd Test Directory Clinical Indication & code (reason for testing) 1..1 choice Definition: ServiceRequest.code
Value Set: GMS WGS Rare Disease Form - Guide Test Codes
..... NOS/TestDirectoryClinicalIndication-rd-designNote The common core's own Test Code item only fires for Rare and Inherited Disease/Haemoglobinopathy/Cancer Test Categories, none of which cover Whole Genome Sequencing. Bound below against GMSWGSGuideTestCodesVS (the 37 $GTD R* codes whose display text names WGS) rather than the full GenomicTestCodes ValueSet, since every test ordered on this form is a WGS test by definition. 0..1 display Value Set:
.... NOS/AdditionalPanels Additional panel(s) (mandatory for R89) - GMS Rare Disease Virtual panels, Genomics England PanelApp 0..1 string Value Set:
..... NOS/AdditionalPanels-designNote No FHIR mapping or coding system confirmed yet - Genomics England PanelApp panel names/versions are not currently represented anywhere in this IG. 0..1 display Value Set:
.... NOS/ProbandAgeAtOnset Proband's age at onset of clinical features 0..1 decimal Definition: Condition.onsetAge
Value Set:
..... NOS/ProbandAgeAtOnset-designNote Distinct from the common core's Age at collection (ageAtCollection) item, which is the patient's age when the specimen was taken, not when clinical features first appeared. 0..1 display Value Set:
.... NOS/SpecificRareDiseaseSuspected State if specific rare disease is suspected or confirmed 0..1 string Value Set:
..... NOS/SpecificRareDiseaseSuspected-designNote Free-text complement to the common core's own coded CITT code (Specific disease suspected/reason for testing, LN/51967-8, ServiceRequest.reasonCode) - not a replacement for it. 0..1 display Value Set:
.... NOS/LifeStatus Life status 0..1 choice Definition: Patient.deceasedBoolean
Value Set:
Options: 2 options
.... FamilyMembers Family member(s) to be tested 0..* group Definition: ServiceRequest.supportingInfo
Value Set:
..... FamilyMembers-designNote The source PDF hard-codes exactly two family-member slots (form fields FM1_* and FM2_*, each with their own forename/surname/DOB/NHS number/gender/deceased/status/ethnicity/relationship_to_proband fields, plus a matching FM1_*/FM2_* sample block further down the form) - modelled here as a proper repeating group instead, so it isn't artificially capped at two. Each repetition carries the same ServiceRequest.supportingInfo -> RelatedPerson pattern as Genetic Clinical Referral - Consultand (RelatedPerson), but inline on this Questionnaire rather than via a separate derivedFrom/extends Questionnaire per relative. Not required for proband-only referrals. 0..1 display Value Set:
..... NOS/FamilyMemberReference Family member 0..1 reference Definition: ServiceRequest.supportingInfo
Value Set:
..... NOS/FamilyMemberForename Forename 0..1 string Definition: RelatedPerson.name.given
Value Set:
..... NOS/FamilyMemberSurname Surname 0..1 string Definition: RelatedPerson.name.family
Value Set:
..... NOS/FamilyMemberDOB Date of birth 0..1 date Definition: RelatedPerson.birthDate
Value Set:
..... NOS/FamilyMemberNHSNumber NHS number (or postcode, if not known) 0..1 string Definition: RelatedPerson.identifier
Value Set:
..... NOS/FamilyMemberGender Sex 0..1 choice Definition: RelatedPerson.gender
Value Set: AdministrativeGender
..... NOS/FamilyMemberLifeStatus Life status 0..1 choice Value Set:
Options: 2 options
..... NOS/FamilyMemberStatus Status 0..1 string Value Set:
...... NOS/FamilyMemberStatus-designNote The source PDF has a separate 'status' dropdown alongside 'deceased' for each family member (FM1_status/FM2_status), distinct from life status - its intended meaning (e.g. affected/unaffected/carrier) isn't stated on the form's own visible labels, so it is modelled here as free text pending confirmation. 0..1 display Value Set:
..... NOS/FamilyMemberEthnicity Ethnicity 0..1 choice Value Set: Ethnicity
..... NOS/FamilyMemberRelationship Relationship to proband 0..1 choice Definition: RelatedPerson.relationship
Value Set: UK Core Person Relationship Type
..... FamilyMembers/Specimen Sample (this family member) - only if also using this form for sample collection 0..1 group Value Set:
...... FamilyMembers/Specimen-designNote Nested within each Family member repetition, mirroring the source PDF's own parallel FM1_*/FM2_* sample fields alongside its FM1_*/FM2_* demographic fields. Sample type, Sample volume and Comments follow the same shape as Genomic Test Order's own Specimen group. 0..1 display Value Set:
...... NOS/FamilyMemberSpecimenLocalId Local ID / barcode 0..1 string Definition: Specimen.identifier
Value Set:
...... NOS/FamilyMemberSpecimenCollectionDateTime Collection date / time 0..1 dateTime Definition: Specimen.collection.collectedDateTime
Value Set:
...... NOS/FamilyMemberSpecimenSampleType Sample type 0..1 choice Definition: Specimen.type
Value Set: Specimen Type
...... NOS/FamilyMemberSpecimenVolume Sample volume 0..1 decimal Definition: Specimen.collection.quantity
Value Set:
...... NOS/FamilyMemberSpecimenComments Comments 0..1 string Value Set:
.... GMSSpecimen Samples being sent to GMS DNA extraction lab (proband - only if also using this form for sample collection) 0..1 group Value Set:
..... GMSSpecimen-designNote Sample ID, Collection date/time, Sample volume and Comments here map directly onto the common core's own Specimen group (Specimen ID Number, Specimen Collection Date, Specimen Volume) - not re-declared as new items. Not repeating, since there is exactly one proband - see the nested Sample group under Family Members above for the equivalent per-family-member sample fields, which do repeat. 0..1 display Value Set:
.... HPOTerms HPO (Human Phenotype Ontology) Terms 1..1 group Value Set:
..... HPOTerms-designNote Mandatory - at least one HPO term is required, and WGS analysis and interpretation cannot commence without them. The form's own page 2 offers a "guide, not exhaustive" list of 38 example terms grouped by specialty (Cardiology, Immunology, Ophthalmology, Renal, Developmental, Neurology) - rendered as an image on the form itself, not selectable text or coded values. GMSWGSGuideHPOTermsVS reproduces that same list, but as real HPO codes (http://purl.obolibrary.org/obo/hp.owl, release 20191108), confirmed term-by-term against the Genomics England terminology server (https://ontoserver.aws.gel.ac/fhir) via CodeSystem/$lookup rather than guessed - see GMSWGSGuideHPOTermsToSCT for the SNOMED CT mapping built from that same verification pass. Bound below as #open-choice, so those 38 terms are offered as quick picks without preventing entry of any other HPO term/code not in this guide list. 0..1 display Value Set:
..... NOS/HPOTerm HPO Term 1..* open-choice Definition: Condition.code
Value Set: GMS WGS Rare Disease Form - Guide HPO Terms
..... NOS/HPOTermStatus Present / Absent / Unknown 1..* choice Definition: Condition.verificationStatus
Value Set:
Options: 3 options
.... MainContact Main contact (if different from responsible clinician/consultant) 0..1 group Value Set:
..... MainContact-designNote Responsible clinician/consultant maps directly onto the common core's own Healthcare Professional group and is not re-declared here. Main Contact is a genuinely additional, distinct person (used when the requester of a report copy isn't the responsible clinician) - see Genomic Test Order - Common Fields We May Have Missed (Copy Report To) for the same gap identified independently from the NW GLH paper forms. 0..1 display Value Set:
..... NOS/MainContactName Name 0..1 string Value Set:
..... NOS/MainContactDepartmentAddress Department address 0..1 string Value Set:
..... NOS/MainContactPhone Phone 0..1 string Value Set:
..... NOS/MainContactEmail Email 0..1 string Value Set:

doco Documentation for this format

Options Sets

Answer options for NOS/FamilyTestType

  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#FamilyTestSingleton
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#FamilyTestTrio
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#FamilyTestOther

Answer options for NOS/ReasonForDiagnosticTest

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

Answer options for NOS/RODToFollow-gms-rd

  • http://loinc.org#LA33-6 ("Attached")
  • http://loinc.org#LA32-8 ("To follow")

Answer options for NOS/LifeStatus

  • http://snomed.info/sct#438949009 ("Alive")
  • http://snomed.info/sct#419099009 ("Deceased")

Answer options for NOS/FamilyMemberLifeStatus

  • http://snomed.info/sct#438949009 ("Alive")
  • http://snomed.info/sct#419099009 ("Deceased")

Answer options for NOS/HPOTermStatus

  • http://loinc.org#LA33-6 ("Present")
  • http://loinc.org#LA32-8 ("Absent")
  • http://loinc.org#LA4489-6 ("Unknown")

Profile: Questionnaire

Patient

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

Proband's first name*

Proband's last name*

Date of birth (dd/mm/yyyy)*

Hospital number

Sex assigned at birth

Postcode

NHS number

See NOS/ReasonNHSNumberNotAvailable in Ask At Order Entry Questions below if not available.

  • linkId: LN/89061-6-designNote
  • Answers:

Ethnicity

Responsible clinician / consultant

Name

Department address

Phone

Email

Ask At Order Entry Questions

  • linkId: AskAtOrderEntry
  • Answers:

Requesting organisation

Same concept as the common core's own Referring Organisation ODS Code / Ordering Facility (HL7/ORC-21) - kept as its own item here to sit alongside GMS laboratory below.

  • linkId: HL7/ORC-21-requesting-designNote
  • Answers:

GMS laboratory (to receive sample)

Family test*

The form's own PDF radio buttons offer Singleton/Trio/Other (with a number), not Duo, since a Duo is presumably covered by 'Other'.

  • linkId: NOS/FamilyTestType-designNote
  • Answers:

Number of family members being tested (if 'Other')

  • linkId: NOS/FamilyTestOtherNumber
  • Enable When: todo
  • Answers:

Reason NHS Number not available (e.g. patient not eligible, foreign national)

Reason for urgency, if requesting priority over the standard non-urgent pathway

The Clinical Priority selection itself is the same concept as the common core's own Priority item (LN/82768-3) - only the free-text urgency justification is new here.

  • linkId: NOS/UrgencyReason-designNote
  • Answers:

Reason for diagnostic test*

Identical wording and options to Clinical utility on Rare Disease Genomic Testing Ask At Order Entry (NOS/ClinicalUtility, for the NW GLH DOC4900 paper form) - the same three options, reused here rather than re-defined.

  • linkId: NOS/ReasonForDiagnosticTest-designNote
  • Answers:

Record of Discussion (ROD) attached, or to follow

Test Directory Clinical Indication & code (reason for testing)*

The common core's own Test Code item only fires for Rare and Inherited Disease/Haemoglobinopathy/Cancer Test Categories, none of which cover Whole Genome Sequencing. Bound below against GMSWGSGuideTestCodesVS (the 37 $GTD R* codes whose display text names WGS) rather than the full GenomicTestCodes ValueSet, since every test ordered on this form is a WGS test by definition.

  • linkId: NOS/TestDirectoryClinicalIndication-rd-designNote
  • Answers:

Additional panel(s) (mandatory for R89) - GMS Rare Disease Virtual panels, Genomics England PanelApp

  • linkId: NOS/AdditionalPanels
  • Answers:

No FHIR mapping or coding system confirmed yet - Genomics England PanelApp panel names/versions are not currently represented anywhere in this IG.

  • linkId: NOS/AdditionalPanels-designNote
  • Answers:

Proband's age at onset of clinical features

Distinct from the common core's Age at collection (ageAtCollection) item, which is the patient's age when the specimen was taken, not when clinical features first appeared.

  • linkId: NOS/ProbandAgeAtOnset-designNote
  • Answers:

State if specific rare disease is suspected or confirmed

  • linkId: NOS/SpecificRareDiseaseSuspected
  • Answers:

Free-text complement to the common core's own coded CITT code (Specific disease suspected/reason for testing, LN/51967-8, ServiceRequest.reasonCode) - not a replacement for it.

  • linkId: NOS/SpecificRareDiseaseSuspected-designNote
  • Answers:

Life status

Family member(s) to be tested

The source PDF hard-codes exactly two family-member slots (form fields FM1_* and FM2_*, each with their own forename/surname/DOB/NHS number/gender/deceased/status/ethnicity/relationship_to_proband fields, plus a matching FM1_*/FM2_* sample block further down the form) - modelled here as a proper repeating group instead, so it isn't artificially capped at two. Each repetition carries the same ServiceRequest.supportingInfo -> RelatedPerson pattern as Genetic Clinical Referral - Consultand (RelatedPerson), but inline on this Questionnaire rather than via a separate derivedFrom/extends Questionnaire per relative. Not required for proband-only referrals.

  • linkId: FamilyMembers-designNote
  • Answers:

Family member

Forename

Surname

Date of birth

NHS number (or postcode, if not known)

Sex

Life status

Status

  • linkId: NOS/FamilyMemberStatus
  • Answers:

The source PDF has a separate 'status' dropdown alongside 'deceased' for each family member (FM1_status/FM2_status), distinct from life status - its intended meaning (e.g. affected/unaffected/carrier) isn't stated on the form's own visible labels, so it is modelled here as free text pending confirmation.

  • linkId: NOS/FamilyMemberStatus-designNote
  • Answers:

Ethnicity

  • linkId: NOS/FamilyMemberEthnicity
  • Answers: Ethnicity

Relationship to proband

Sample (this family member) - only if also using this form for sample collection

  • linkId: FamilyMembers/Specimen
  • Answers:

Nested within each Family member repetition, mirroring the source PDF's own parallel FM1_*/FM2_* sample fields alongside its FM1_*/FM2_* demographic fields. Sample type, Sample volume and Comments follow the same shape as Genomic Test Order's own Specimen group.

  • linkId: FamilyMembers/Specimen-designNote
  • Answers:

Local ID / barcode

Collection date / time

Sample type

Sample volume

Comments

  • linkId: NOS/FamilyMemberSpecimenComments
  • Answers:

Samples being sent to GMS DNA extraction lab (proband - only if also using this form for sample collection)

  • linkId: GMSSpecimen
  • Answers:

Sample ID, Collection date/time, Sample volume and Comments here map directly onto the common core's own Specimen group (Specimen ID Number, Specimen Collection Date, Specimen Volume) - not re-declared as new items. Not repeating, since there is exactly one proband - see the nested Sample group under Family Members above for the equivalent per-family-member sample fields, which do repeat.

  • linkId: GMSSpecimen-designNote
  • Answers:

HPO (Human Phenotype Ontology) Terms*

  • linkId: HPOTerms
  • Answers:

Mandatory - at least one HPO term is required, and WGS analysis and interpretation cannot commence without them. The form's own page 2 offers a "guide, not exhaustive" list of 38 example terms grouped by specialty (Cardiology, Immunology, Ophthalmology, Renal, Developmental, Neurology) - rendered as an image on the form itself, not selectable text or coded values. GMSWGSGuideHPOTermsVS reproduces that same list, but as real HPO codes (http://purl.obolibrary.org/obo/hp.owl, release 20191108), confirmed term-by-term against the Genomics England terminology server (https://ontoserver.aws.gel.ac/fhir) via CodeSystem/$lookup rather than guessed - see GMSWGSGuideHPOTermsToSCT for the SNOMED CT mapping built from that same verification pass. Bound below as #open-choice, so those 38 terms are offered as quick picks without preventing entry of any other HPO term/code not in this guide list.

  • linkId: HPOTerms-designNote
  • Answers:

HPO Term*

Present / Absent / Unknown*

Main contact (if different from responsible clinician/consultant)

  • linkId: MainContact
  • Answers:

Responsible clinician/consultant maps directly onto the common core's own Healthcare Professional group and is not re-declared here. Main Contact is a genuinely additional, distinct person (used when the requester of a report copy isn't the responsible clinician) - see Genomic Test Order - Common Fields We May Have Missed (Copy Report To) for the same gap identified independently from the NW GLH paper forms.

  • linkId: MainContact-designNote
  • Answers:

Name

  • linkId: NOS/MainContactName
  • Answers:

Department address

  • linkId: NOS/MainContactDepartmentAddress
  • Answers:

Phone

  • linkId: NOS/MainContactPhone
  • Answers:

Email

  • linkId: NOS/MainContactEmail
  • Answers:

Profile: Questionnaire

LinkIDDescription & Constraintsdoco
.. Patient Definition: Patient
Value Set:
... LN/45392-8 Definition: Patient.name.given
Value Set:
... LN/45394-4 Definition: Patient.name.family
Value Set:
... LN/21112-8 Definition: Patient.birthDate
Value Set:
... LN/76435-7 Definition: Patient.identifier:MedicalRecordNumber
Value Set:
... LN/46098-0 Definition: Patient.gender
Value Set: AdministrativeGender
... LN/45401-7 Definition: Patient.address.postalCode
Value Set:
... LN/89061-6 Definition: Patient.identifier:nhsNumber
Value Set:
.... LN/89061-6-designNote Value Set:
... LN/32624-9 Definition: Patient.extension:ethnicCategory
Value Set: Ethnicity
.. HealthcareProfessional Definition: PractitionerRole
Value Set:
... LN/18705-4 Definition: PractitionerRole.practitioner.display
Value Set:
... NOS/DepartmentAddress Definition: PractitionerRole.organization.display
Value Set:
... LN/81230-5 Definition: PractitionerRole.telecom.value
Value Set:
... LN/89058-2 Definition: PractitionerRole.telecom.value
Value Set:
.. AskAtOrderEntry Value Set:
... HL7/ORC-21-requesting Definition: PractitionerRole.organization.identifier.value
Value Set:
.... HL7/ORC-21-requesting-designNote Value Set:
... NOS/GMSLaboratory Definition: ServiceRequest.performer
Value Set:
... NOS/FamilyTestType Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
.... NOS/FamilyTestType-designNote Value Set:
.... NOS/FamilyTestOtherNumber Enable When: Not done yet
Value Set:
... NOS/ReasonNHSNumberNotAvailable Definition: Patient.identifier:nhsNumber.extension
Value Set:
... NOS/UrgencyReason Definition: ServiceRequest.note
Value Set:
.... NOS/UrgencyReason-designNote Value Set:
... NOS/ReasonForDiagnosticTest Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
.... NOS/ReasonForDiagnosticTest-designNote Value Set:
... NOS/RODToFollow-gms-rd Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
... NOS/TestDirectoryClinicalIndication-rd Definition: ServiceRequest.code
Value Set: GMS WGS Rare Disease Form - Guide Test Codes
.... NOS/TestDirectoryClinicalIndication-rd-designNote Value Set:
... NOS/AdditionalPanels Value Set:
.... NOS/AdditionalPanels-designNote Value Set:
... NOS/ProbandAgeAtOnset Definition: Condition.onsetAge
Value Set:
.... NOS/ProbandAgeAtOnset-designNote Value Set:
... NOS/SpecificRareDiseaseSuspected Value Set:
.... NOS/SpecificRareDiseaseSuspected-designNote Value Set:
... NOS/LifeStatus Definition: Patient.deceasedBoolean
Value Set:
Options: 2 options
... FamilyMembers Definition: ServiceRequest.supportingInfo
Value Set:
.... FamilyMembers-designNote Value Set:
.... NOS/FamilyMemberReference Definition: ServiceRequest.supportingInfo
Value Set:
.... NOS/FamilyMemberForename Definition: RelatedPerson.name.given
Value Set:
.... NOS/FamilyMemberSurname Definition: RelatedPerson.name.family
Value Set:
.... NOS/FamilyMemberDOB Definition: RelatedPerson.birthDate
Value Set:
.... NOS/FamilyMemberNHSNumber Definition: RelatedPerson.identifier
Value Set:
.... NOS/FamilyMemberGender Definition: RelatedPerson.gender
Value Set: AdministrativeGender
.... NOS/FamilyMemberLifeStatus Value Set:
Options: 2 options
.... NOS/FamilyMemberStatus Value Set:
..... NOS/FamilyMemberStatus-designNote Value Set:
.... NOS/FamilyMemberEthnicity Value Set: Ethnicity
.... NOS/FamilyMemberRelationship Definition: RelatedPerson.relationship
Value Set: UK Core Person Relationship Type
.... FamilyMembers/Specimen Value Set:
..... FamilyMembers/Specimen-designNote Value Set:
..... NOS/FamilyMemberSpecimenLocalId Definition: Specimen.identifier
Value Set:
..... NOS/FamilyMemberSpecimenCollectionDateTime Definition: Specimen.collection.collectedDateTime
Value Set:
..... NOS/FamilyMemberSpecimenSampleType Definition: Specimen.type
Value Set: Specimen Type
..... NOS/FamilyMemberSpecimenVolume Definition: Specimen.collection.quantity
Value Set:
..... NOS/FamilyMemberSpecimenComments Value Set:
... GMSSpecimen Value Set:
.... GMSSpecimen-designNote Value Set:
... HPOTerms Value Set:
.... HPOTerms-designNote Value Set:
.... NOS/HPOTerm Definition: Condition.code
Value Set: GMS WGS Rare Disease Form - Guide HPO Terms
.... NOS/HPOTermStatus Definition: Condition.verificationStatus
Value Set:
Options: 3 options
... MainContact Value Set:
.... MainContact-designNote Value Set:
.... NOS/MainContactName Value Set:
.... NOS/MainContactDepartmentAddress Value Set:
.... NOS/MainContactPhone Value Set:
.... NOS/MainContactEmail Value Set:

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