NHS North West Genomics
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Questionnaire: North West Genomics Test Order

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

The aim of this is to support conversion of multiple Genomic Order Forms from several NHS Trusts to HL7 v2 and/or FHIR.

This is the common core order form: the Patient, Healthcare Professional, Test Request and Specimen fields shared by every order, regardless of test type - these map onto the standardised HL7 v2 OML_O21 message and its FHIR equivalent, the FHIR Message O21. Ask At Order Entry questions, which vary by order/test type, are not part of this core form - see Order Entry Questions below for the separate, order-type-specific Questionnaire to use alongside this one.

This Questionnaire describes the common requirement for a Genomic Order, which is now extended by Ask At Order Entry Questionnaires. Which set of these extension questionnaires is used depends on the order/test type (ServiceRequest.code) - see Order Entry Questions below.

Although this Questionnaire is genomics-specific in name, the model it describes - Patient, Hospital Spell, Diagnostic Workflow and Specimen - is a core model for diagnostic orders generally, not something unique to genomics. The same shape applies equally to pathology, radiology and clinical referral orders; genomics is simply the domain this IG documents it against first. See Diagnostic Model Overview for the basic model this Questionnaire adds detail to, and how it relates to Genomic Test Report on the report side.

Reference

Domain Archetype

This is a level 2 (field-level) view of the basic model introduced in Diagnostic Model Overview, showing the entities and key attributes a Genomic Test Order actually carries:

erDiagram
    Patient ||--|{ ServiceRequest : subject
    HospitalSpell ||--o{ ServiceRequest : encounter
    ServiceRequest ||--o{ Specimen : specimen
    ServiceRequest }o--|| PractitionerRole : requester
    PractitionerRole }o--|| Organization : organization
    ServiceRequest }o--o{ Condition : reasonCode
    ServiceRequest ||--o{ Observation : supportingInfo

    Patient {
        Identifier nhsNumber
        Identifier medicalRecordNumber
        date birthDate
        string postalCode
    }

    HospitalSpell {
        Identifier hospitalProviderSpellIdentifier
        code serviceType
    }

    ServiceRequest {
        Identifier orderIdentifier "Placer"
        Identifier orderFillerNumber "Filler"
        Identifier orderGroupNumber
        code code "Procedure/Test Code"
        dateTime authoredOn
        string note "Clinical Details"
    }

    PractitionerRole {
        Identifier practitionerIdentifier "Ordering Practitioner"
    }

    Organization {
        Identifier organisationCode "Ordering Facility"
    }

    Specimen {
        Identifier specimenId
        CodeableConcept type
        CodeableConcept bodySite
        Identifier accessionIdentifier
        Identifier shipmentTrackingNumber
        dateTime collectedDateTime
        dateTime receivedTime
    }

    Condition {
        CodeableConcept code "Suspected Condition"
    }

Diagnostic Order

Order Test Form - Data Extraction Overview

Order Test Form - Data Extraction Overview


FHIR Message, following the laboratory-order message definition, is the primary format for order messages. HL7 v2 OML_O21 Laboratory Order is also supported - the FHIR Message definition is deliberately based on OML_O21's own structure, which simplifies conversion to/from pipe+hat (v2) and json (FHIR) formats.

At present, the NW GLH Laboratory Information Management System (LIMS) will not support HL7 FHIR. The Regional Integration Exchange (RIE) will perform conversion between v2 and FHIR formats.

This message is an aggregate (DDD)/archetype and so is a collection of FHIR Resources (similar to v2 segments) which is described in Genomic Test Order.

Patient Demographics

Name Value Set / Data Type Cardinality HL7 v2 OML_O21 Message HL7 FHIR ServiceRequest HL7 FHIR Resource (Message + RESTful)
NHS Number NHS Number 0..1 PID-3 ServiceRequest.subject.identifier Patient.identifier[nhsNumber]
Medical Record Number Medical Record Number 0..1 PID-3 if NHS Number not present ServiceRequest.subject.identifier Patient.identifier[MedicalRecordNumber]
Date of Birth ​Date of Birth 0..1 PID-7   Patient.birthDate
Postcode ​Postcode 0..1 PID-11   Patient.address.postalCode

Hospital Spell

Treat as mandatory for reflex or subcontracted orders.

Name Value Set / Data Type Cardinality HL7 v2 OML_O21 Message HL7 FHIR ServiceRequest HL7 FHIR Resource (Message + RESTful)
Hospital Service Service 0..1 PV1-10   Encounter.serviceType
Case Identification or Account Number HospitalProviderSpellIdentifier 0..1 PV1-19 ServiceRequest.encounter.identifier Encounter.identifier HospitalSpell

Diagnostic Workflow

Name Value Set / Data Type Cardinality HL7 v2 OML_O21 Message HL7 FHIR ServiceRequest
Order Identifier (Placer) Order Identifier 1..1 ORC-2 ServiceRequest.identifier[OrderIdentifier]
Filler Order Number   0..1 ORC-3 ServiceRequest.identifier[OrderFillerNumber]
(Placer) Order Group Number Order Group Number 0..1 ORC-4 ServiceRequest.requisition.identifier
(Order) Procedure Code Diagnostic Domain specific - See below 1..1 OBR-4 ServiceRequest.code
Order date   0..1 ORC-9 ServiceRequest.authoredOn
Ordering Practitioner England Practitioner Identifier 0..1 ORC-12 ServiceRequest.requester[PractitionerRole]
Ordering Facility Organisation Code 1..1 ORC-21 If Order has requesting practitioner ServiceRequest.requester[PractitionerRole]
else ServiceRequest.requester[Organization]
performer Organisation Code 0..1 implied by destination of message ServiceRequest.performer
Suspected Condition Domain specific - See below (Generally SNOMED Condition code) .. DG1-3 ServiceRequest.reasonCode
Supporting Information Domain specific - See below 0..* OBX ServiceRequest.supportingInformation
Notes   0..* NTE ServiceRequest.note
Specimen See Specimen below 0..* SPM ServiceRequest.specimen.identifier

Diagnostic Genomics

Name Value Set / Data Type Cardinality HL7 v2 OML_O21 Message HL7 FHIR ServiceRequest
(Order) Procedure Code - Genomic Test Code Genomic Test Directory 1..1 OBR-4 ServiceRequest.code

Original Order, Instance and Filler Orders

ServiceRequest may also be split into two logical entities called OriginalOrder and FillerOrder. The former represents the order received by the Order Filler from the Order Placer, and the latter is orders the Order Filler creates to fulfil that order. These are often also called reflex, work-order or sub-contract orders - both are structurally the same Genomic Test Order archetype above, just created by a different actor.

flowchart TB
    LO["Laboratory Order<br/>(Original Order)<br/>intent = order / reflex"]
    WO["Work Order<br/>intent = instance-order"]
    SC["Subcontracted Order<br/>intent = filler-order"]
    RO["Reflex Order<br/>intent = reflex"]

    LO -->|"Order Filler creates<br/>(Filler Order)"| WO
    LO -->|"Order Filler creates<br/>(Filler Order)"| SC
    LO -->|"Order Filler creates<br/>(Filler Order)"| RO

One Laboratory Order (the Original Order) can give rise to any of the three Filler Order shapes in the table below - a Work Order, a Subcontracted Order, or a Reflex Order - each created by the Order Filler rather than the original requester, and each carrying its own intent value. See Diagnostic Model Overview - Linking Related Orders for how ServiceRequest.requisition ties a Filler Order back to the Original Order it descends from.

In IHE Laboratory Testing Workflow, the Original Order is the key entity in LAB-1, and the Filler Order is the key entity in LAB-4 - both share the field-by-field mapping in Diagnostic Workflow above.

Filler Order Intent

Type Description IHE PALM Created by Original Order Intent Filler Order Intent
Laboratory Order A request for one or more laboratory investigations submitted by the requesting clinician or system. LAB-1 Order Placer order / reflex  
Work Order A subordinate order created by the laboratory to organise and fulfil part of the overall Laboratory Order. LAB-4 Order Filler   instance-order
Subcontracted Order A laboratory order forwarded to another laboratory for fulfilment, for example when a specialised test is referred to an external provider. LAB-35 Order Filler   filler-order
Reflex Order A new order created automatically by the Order Filler based on previous test results, for example when pathology findings automatically trigger a genomic test. LAB-35 Order Filler   reflex

Specimen

Name LOINC Value Set / Data Type Cardinality HL7 v2 OML_O21 Message HL7 FHIR Specimen
Specimen ID 80398-1   0..* SPM-2 Specimen.identifier[PlacerSpecimenNumber]
Specimen Type   Specimen Type 1..1 SPM-4 Specimen.type
Specimen Source Site   Specimen Body Site 0..1 SPM-8 Specimen.collection.bodySite
Specimen Accession Number 80398-1 Specimen Accession Number 0..* SPM-30 Specimen.accessionIdentifier
Shipment Tracking Number 97209-1 Shipment Tracking Number 0..* SPM-32 Specimen.identifier[ShipmentTrackingNumber]
Specimen Collection Date     0..1 SPM-17 Specimen.collection.collectedDateTime
Specimen Received Date     0..1 SPM-18 Specimen.receivedTime

Note: it is likely that source systems will use ORM_01 and not include specimen details. In this case it is suggested that the specimen details are captured as 'Ask at Order Entry Questions' and so provided as OBX segments.

Order Entry Questions

flowchart LR
    CORE["Laboratory Order Core"]
    AAOEC["Ask At Order Entry Questions<br/>Genomic Order Common Questions"]
    AAOET["Genomic Test Specific Additional Ask At<br/>Order Entry Questions (e.g. WGS,<br/>Cancer, Chimerism Testing)"]
    QNAIRE["Order entry form<br/>(EPR / Order Comms system)"]
    MSG["HL7 v2.5.1 OML_O21<br/>or FHIR R4 Message O21"]
    LIMS["LIMS"]

    CORE --> QNAIRE
    AAOEC --> QNAIRE
    AAOET --> QNAIRE
    QNAIRE -->|"order placed"| MSG
    MSG --> LIMS

The common core, plus whichever Ask At Order Entry Questionnaire(s) apply, together are what a Questionnaire/QuestionnaireResponse represents - the order entry form as it appears inside an EPR or Order Comms system. HL7 v2 OML_O21/FHIR Message O21 is a different thing: the wire format that same order is sent onward to a LIMS in, once it's placed - not a form a user fills in. Ask At Order Entry questions are what vary between test types; the message shape they end up populating downstream does not. Ask At Order Entry Questions generally get transformed to Observation (OBX) or RelatedPerson (NK1) when added to this HL7 v2/FHIR message, and are linked in FHIR via ServiceRequest.supportingInfo.

For most order/test types this is two Questionnaires combined - the common core plus one Ask At Order Entry Questionnaire. Some test types split the Ask At Order Entry side further, into questions common to several test types (e.g. Ask At Order Entry Questions Common, shared by Cancer, WGS and Rare and Inherited Disease orders) plus questions specific to just one (e.g. WGS Test Additional Ask At Order Entry Questions) - a WGS order therefore combines three Questionnaires. HLA Tests - Transplant and Chimerism Test Additional Ask At Order Entry Questions sit in the same "Test Specific" tier as WGS, just without a shared "Common" tier of their own today - each combines directly with the common core, the same two-Questionnaire shape as most other test types.

Coding Ask At Order Entry questions. Local coding (against the NWGMSA CodeSystem) is acceptable where no suitable national code exists, and is used throughout this IG's own Ask At Order Entry Questionnaires. Where a national code does exist for an important/key question, using it is preferred, to aid communication with systems and services beyond this IG - SNOMED CT or LOINC, whichever actually has a matching concept. In practice this is more often LOINC than SNOMED CT: SNOMED CT is a clinical terminology, and doesn't tend to hold codes for questions themselves (as opposed to the findings/answers a question is about), whereas LOINC's own question-and-panel structure covers this directly - so LOINC is often the only coded option available, not a stylistic preference.

The same pattern recurs on the report side: Genomic Test Report's panels and Genomic Results vary according to which test is being recorded in the LIMS, in exactly the same way Ask At Order Entry questions vary by test type here - and HL7 v2 ORU_R01/FHIR Message R01 is, correspondingly, how that varying report content is sent onward from the LIMS to the EPR, the mirror image of OML_O21/FHIR Message O21 on the order side.

The Questionnaires in this IG are regarded as Domain Archetypes - a term deliberately borrowed from openEHR, where an archetype is a formal, reusable model of a clinical/domain concept used to elaborate a data model during a project's early stages, independent of how it's later persisted or exchanged. FHIR logical models can serve the same elaboration purpose; this IG uses Questionnaire/QuestionnaireResponse instead, and the link to openEHR's own archetype concept is intentional, not coincidental.

These Questionnaires may also represent a persistence standard for some implementations, but this guide itself is about exchange - either HL7 v2/FHIR messaging or a FHIR REST API. It is the resources that a completed questionnaire (e.g. a QuestionnaireResponse) breaks down into - Patient, ServiceRequest, Observation, RelatedPerson, Specimen, and so on - that are actually used for data exchange, not the Questionnaire/QuestionnaireResponse itself.

Separately, a Questionnaire may also be used to build the actual data-entry screens within an EPR or other application - see HL7 FHIR Structured Data Capture for more on that use.

This Questionnaire (defined below, titled Genomic Test Order in this IG) represents the Laboratory Order Core: the Patient, Healthcare Professional, Test Request and Specimen fields shared by every order, regardless of test type or diagnostic domain - the same shape would apply equally to a pathology or radiology order, not just genomics (see this page's own introduction above) - mapping onto the standardised HL7 v2 OML_O21 message and its FHIR equivalent, the FHIR Message O21.

Ask At Order Entry questions vary by order/test type, so they are not part of the common core - each order/test type instead uses its own Ask At Order Entry Questionnaire. Those below derivedFrom/extend this common core Questionnaire; the NW GLH Paper Test Request Forms further down don't yet declare that relationship - see that section for why.

These Ask At Order Entry Questionnaires originated within this IG, modelling an existing digital order-entry screen rather than a paper form:

Order/Test Type Ask At Order Entry Questionnaire Tier
Ask At Order Entry Questions Common (default) Ask At Order Entry Questions Common - the fallback for any order/test type without its own dedicated Ask At Order Entry Questionnaire, which today covers:
- Cancer
- Whole Genome Sequencing (WGS) - alongside the Test Specific Questionnaire below
- Rare and Inherited Diseases		 Common
Test Specific - Whole Genome Sequencing (WGS) WGS Test Additional Ask At Order Entry Questions - used alongside Ask At Order Entry Questions Common above, not instead of it - a WGS order combines both plus the common core Test Specific
Test Specific - Cancer (proposal) Cancer Test Additional Ask At Order Entry Questions - a proposal, inferred from the two Cancer-category NW GLH Paper Test Request Forms below, not yet wired into either of them Test Specific
Distributed WGS (dWGS) sub-contracted order dWGS Ask At Order Entry Questions - see dWGS. The full 42-field digital manifest is separately documented as a CSV manifest description at dWGS Sub-Order Manifest, not itself an Ask At Order Entry Questionnaire Test Specific
Histocompatibility and Immunogenetics - HLA Tests (Transplant) HLA Tests - Transplant Ask At Order Entry - see Histocompatibility and Immunogenetics - combines directly with the common core, no separate Common tier of its own today Test Specific
Histocompatibility and Immunogenetics - Chimerism Testing Chimerism Test Additional Ask At Order Entry Questions - see Histocompatibility and Immunogenetics - combines directly with the common core, no separate Common tier of its own today Test Specific

NW GLH Paper Test Request Forms

flowchart LR
    EPR["Complete Order Form on EPR<br/>(optional)"]
    FORM["Complete Order Form<br/>(paper)"]
    SPECIMEN["Sent with specimen"]
    LIMS["Copy Order Form into LIMS<br/>(manual)"]
    MSG["HL7 v2 OML_O21<br/>or FHIR Message O21"]

    EPR -.->|"prints"| FORM
    FORM --> SPECIMEN
    SPECIMEN --> LIMS
    LIMS --> MSG

Unlike Order Entry Questions above, this pathway is manual end to end: an EPR/Order Comms system may optionally exist upstream to print the form, but the paper form itself - not a Questionnaire/QuestionnaireResponse combination an EPR completes electronically - is what actually travels with the specimen to the laboratory, where its answers are manually entered into the LIMS. HL7 v2 OML_O21/FHIR Message O21 can still be produced at the end of this - see ctDNA Management Information - Current Process, where NW Genomics manually enters a paper-based order into iGene and the Regional Integration Engine (RIE) later converts that into a genuine FHIR Message O21, a copy of which is sent on to NE&Y Genomics - but the message is only ever as complete as the paper form was: a field missing from the paper form is missing from the message too, with no upstream Questionnaire/QuestionnaireResponse to have captured it electronically in the first place. This is the direct opposite of Order Entry Questions' own pathway, which requires substantially less manual processing at both order creation in the referring NHS Trust and receipt at the NHS Diagnostic Service, precisely because the Questionnaire/message combination is populated electronically throughout rather than transcribed from paper partway through.

The Ask At Order Entry Questionnaires below instead originated from real NW GLH paper test request forms, rather than an existing digital order-entry screen - see below for which forms and how they compare. None of the twelve Questionnaires below derivedFrom/extends this common core Questionnaire yet, unlike the digital-order-entry-screen-originated ones above: they haven't been processed into the specific electronic Ask At Order Entry shape that relationship implies for use in an actual order, only compared against the common core field-by-field. Where a paper form's own question turns out to already be covered by NW Genomic General Test Order (e.g. gestation of pregnancy), the paper-form Questionnaire carries a design note saying so rather than silently duplicating it - both remain independent Ask At Order Entry Questionnaires, since exactly one applies per order:

Order/Test Type Ask At Order Entry Questionnaire Test Directory Code(s)
Rare and Inherited Disease - WGS (national GMS form) GMS WGS Rare Disease Any Rare and Inherited Disease code with test-method = WGS on Genomic Test Code (e.g. R14.1) - not one fixed code
Rare and Inherited Disease - WGS (local paper order) WGS Local Test Order Ask At Order Entry Same WGS codes as above, ordered via the local paper route rather than the national GMS form
Rare and Inherited Disease (generic) Rare Disease Genomic Testing Ask At Order Entry Any Rare and Inherited Disease code not covered by a more specific row below
Rare and Inherited Disease - Prenatal Haemoglobinopathy Prenatal Haemoglobinopathy Ask At Order Entry R361, R372, R93 (haemoglobinopathy trait/carrier/diagnostic codes) - shared with Haemoglobinopathy Genetic Testing below; which specific code applies to which of the two forms is not confirmed from either form's own source
Rare and Inherited Disease - Haemoglobinopathy Genetic Testing Haemoglobinopathy Genetic Testing Ask At Order Entry R361, R372, R93 - see caveat above
Rare and Inherited Disease - Cystic Fibrosis Carrier Testing Cystic Fibrosis Carrier Testing Ask At Order Entry R185.1 "Cystic fibrosis carrier testing"
Rare and Inherited Disease - Genomic Variant Review Genomic Variant Review Ask At Order Entry Not applicable - reviews a variant already reported under a prior test code, rather than requesting a new one
Rare and Inherited Disease - Deafness (R67) Deafness (R67) Ask At Order Entry R67.1 "Monogenic hearing loss"
Rare and Inherited Disease - CYP2C19 Mavacamten (R454) CYP2C19 Mavacamten (R454) Ask At Order Entry R454.1 "Mavacamten for treating symptomatic obstructive hypertrophic cardiomyopathy"
Cancer - Solid Tumour (HRD and Tumour BRCA) HRD and Tumour BRCA Ask At Order Entry M2.5 (HRD test, tumour BRCA included) / M2.1 (tumour BRCA only)
Cancer - WGS (national GMS form) GMS WGS Cancer Ask At Order Entry Any Cancer code with test-method = WGS on Genomic Test Code - not one fixed code
Haematological Oncology Haemato-Oncology Ask At Order Entry Not applicable - the form selects a named laboratory test panel directly, not a Test Directory code (see the Questionnaire's own description)

This list is not exhaustive. A real NHS Trust order-entry screen for Rare and Inherited Disease WGS orders lists several further Rare and Inherited Disease test codes that also require their own paper form to be completed and sent with the sample - none of which has a Questionnaire in this IG yet: R413.1 "Autoinflammatory Disorders", R141.1 "Monogenic diabetes" / R142.1 "Glucokinase-related fasting hyperglycaemia" (offered as alternatives on the same form), and R201.1 "Atypical haemolytic uraemic syndrome". All four codes are live in the current Rare and Inherited Disease directory - see Genomic Test Code - so these are genuine gaps in this IG's own paper-form coverage, not retired codes.

The twelve forms above are the NW GLH's own paper test request forms, plus the two national NHS Genomic Medicine Service (GMS) WGS forms NW GLH also uses (distinct from the NW GLH-specific WGS local paper order) - each compared directly against this Questionnaire below using the same fields every paper order form needs to identify: NHS Number, Medical Record Number, Order Placer Number, Account Number/Hospital Spell Identifier, Specimen Identifier, Test Code, Ordering Facility, and Ordering Clinician (GMC/GMP).

Cancer

Form NHS Number Medical Record Number Order Placer Number Account Number/Hospital Spell Specimen Identifier Test Code Ordering Facility Ordering Clinician (GMC/GMP)
HRD and Tumour BRCA Yes Yes No No Pathology block/sample number only Implied - tick box (HRD / tBRCA / relapsed), not a GTD R-code Yes (free text) Name + position only, no GMC/GMP
GMS WGS Cancer (national form) Yes, with a "reason not available" fallback Yes No No Sample ID (tumour and germline sections) Explicit - Test Directory Clinical Indication & code Requesting organisation + GLH laboratory (two fields) Name only, no GMC/GMP

Haematological Oncology

Form NHS Number Medical Record Number Order Placer Number Account Number/Hospital Spell Specimen Identifier Test Code Ordering Facility Ordering Clinician (GMC/GMP)
Haemato-Oncology Yes Yes No No Pathology block/sample number, optional Implied - named panel tick box, not a GTD R-code Yes (free text) Name only, no GMC/GMP

Modelled as its own category, distinct from Cancer generally - the same Haematological Oncology/Cancer split this IG applies elsewhere, e.g. the category property on NHS England Genomic Test Code and NHS England Digital Genomic Test Services.

Rare and Inherited Disease

Form NHS Number Medical Record Number Order Placer Number Account Number/Hospital Spell Specimen Identifier Test Code Ordering Facility Ordering Clinician (GMC/GMP)
Rare Disease (generic) Yes Yes No No No (sticker/label only) Explicit - R code Yes (free text) Name only, no GMC/GMP
Haemoglobinopathy Prenatal Yes (maternal + paternal) Yes (maternal + paternal) No No No Not present - implied by the form itself Free text Name only, no GMC/GMP
Haemoglobinopathy Genetic Yes Yes No No No Not present - implied by the form itself Free text Name only, no GMC/GMP
Cystic Fibrosis Carrier Yes Yes No No No Not present - implied by the form itself Free text (GP surgery) GP name only, no GMC/GMP
WGS (local paper order) Yes Yes No No Barcode placeholder ("NGIS/Barcode") Explicit - NGIS Test Code Yes (free text) Name only, no GMC/GMP
Genomic Variant Review Yes Yes No (has "Report reference" - see below) No N/A - no new specimen Not present - reviewing a prior result, not requesting a new one Yes (free text) Name only, no GMC/GMP
Deafness (R67) Yes Yes No No No (separate DNA request card assumed) Implied - fixed, R67 is the form itself No (free text address only) Name only, no GMC/GMP
CYP2C19 Mavacamten (R454) Yes Yes No No No (lab sticker only) Implied - fixed, R454 is the form itself Yes (free text) Name only, no GMC/GMP
GMS WGS Rare Disease (national form) Yes, with a "reason not available" fallback Yes No No Sample ID, only if also used for sample collection Explicit - Test Directory Clinical Indication & code Requesting organisation + GMS laboratory (two fields) Name only, no GMC/GMP

A pattern holds across all twelve paper forms: none captures an Order Placer Number, an Account Number/Hospital Spell Identifier, or a clinician professional identifier (GMC/GMP number) - see Common Fields We May Have Missed below for why the first two are a structural difference rather than a gap, and the third genuinely is one. Test Code is explicit on four forms (Rare Disease generic, WGS local paper order, and both national GMS WGS forms); on five it is implied by which specific form/tick-box was used rather than entered as a coded value, and on one (Genomic Variant Review) no test code applies at all, since it reviews a result already reported rather than requesting a new one. Both national GMS WGS forms split "Ordering Facility" into two fields - a requesting organisation and a separate receiving GMS/GLH laboratory.

Common Fields We May Have Missed

Comparing all twelve forms side by side surfaces a few candidate additions to this common core Questionnaire, alongside two apparent gaps that are better understood as structural differences between paper and digital ordering:

  • Order Placer Number and Account Number/Hospital Spell Identifier are absent from every paper form, not missing from this Questionnaire. Both are usually assigned by the requesting system/PAS at the point of digital order creation - a paper form filled in by a referring clinician predates that assignment, so there is nothing on the form to capture. This Questionnaire's own fields for these (Diagnostic Workflow, Hospital Spell) remain correct; the paper forms simply sit upstream of where those identifiers get created.
  • Ordering Clinician Professional Identifier (GMC/GMP) is a genuine gap - on the paper side, not this Questionnaire. Every one of the twelve forms captures the ordering clinician by name only (occasionally with position/specialty), never a GMC or GMP number, even though Referring Clinician Professional Identifier (LN/46608-6) is required = true on this Questionnaire. Converting one of these paper forms to a digital order will need to resolve the clinician's professional identifier from name (+ organisation) some other way - e.g. an ODS/PDS lookup - since the form itself never supplies it.
  • Gender Identity, distinct from Sex Registered at Birth, appears as its own field on four of the twelve forms (Rare Disease generic, Genomic Variant Review, Haemato-Oncology, CYP2C19 Mavacamten - all recent DOC-numbered templates). This Questionnaire only has Sex registered at birth (LN/46098-0) - Gender Identity (LOINC 76691-5) is a plausible common-core addition rather than something specific to any one order type.
  • Copy Report To / secondary report recipient, distinct from the ordering clinician, appears on seven of the twelve forms ("Requested by/Cc. Report to", "Preferred method of report", "Main contact (if different from responsible clinician/consultant)" on both national GMS WGS forms). This Questionnaire's own Referring Clinician Email (LN/89058-2) already repeats, which can hold a second address, but there is no field for a second recipient's name distinct from the referrer - worth considering if a named cc'd recipient (not just an extra email address) turns out to matter operationally.
  • Specimen "Taken by" (the person who collected the sample) appears consistently across the WGS, CYP2C19 and Haemato-Oncology forms, alongside Specimen Collection Date, which this Questionnaire already has (Specimen, LN/33882-2) - a "collected by" field does not currently exist.
  • HPO (Human Phenotype Ontology) terms are mandatory on GMS WGS Rare Disease - WGS analysis and interpretation cannot commence without at least one. This Questionnaire has no phenotype-term field at all, structured or otherwise, and no confirmed FHIR CodeSystem binding for HPO exists anywhere in this IG yet (DiagnosticImplication.fsh's own predicted-phenotype component mentions HPO only as one of several acceptable free-text-bound terminologies). Of everything surfaced by this comparison, this is the field most likely to need resolving before any WGS order type could be implemented against this IG.
  • Reason NHS Number not available appears on both national GMS WGS forms (e.g. "patient not eligible for NHS number (e.g. foreign national)") - a small but genuinely useful field this Questionnaire doesn't have anywhere, since NHS Number (LN/89061-6) is simply left blank with no explanation captured.
  • A named relative/partner reference for comparative interpretation recurs independently across four different Rare Disease forms (Haemoglobinopathy Genetic, Cystic Fibrosis Carrier, the WGS Proband reference for a Family Member sample, and GMS WGS Rare Disease's own repeating Family member(s) to be tested table) - each names a specific relative whose own affected/carrier status or result affects how this test is interpreted. Rather than adding this to the common core, each affected Ask At Order Entry Questionnaire above models it locally via ServiceRequest.supportingInfo -> RelatedPerson/Patient, the same shape as Genetic Clinical Referral - Consultand - it recurs often enough to be worth naming as a pattern, even though it isn't universal enough to belong in the shared core.

Profile: Questionnaire

Structure
LinkIDTextCardinalityTypeDescription & Constraintsdoco
.. The aim of this is to support conversion of multiple Genomic Order Forms from several NHS Trusts to HL7 v2 and/or FHIR. This is the **common core** order form: the Patient, Healthcare Professional, Test Request and Specimen fields shared by every order, regardless of test type - these map onto the standardised [HL7 v2 OML_O21](hl7v2.html#oml_o21-laboratory-order) message and its FHIR equivalent, the [FHIR Message O21](MessageDefinition-laboratory-order.html). Ask At Order Entry questions, which vary by order/test type, are **not** part of this core form - see [Order Entry Questions](#order-entry-questions) below for the separate, order-type-specific Questionnaire to use alongside this one. Questionnaire https://fhir.nwgenomics.nhs.uk/Questionnaire/GenomicTestOrder#2.2.0
... Patient Patient 0..1 group Definition: Patient
Value Set:
.... LN/45394-4 Patient surname 1..1 string Definition: Patient.name.family
Value Set:
.... LN/45392-8 Patient first name 1..1 string Definition: Patient.name.given
Value Set:
.... LN/21112-8 Date of birth 1..1 date Definition: Patient.birthDate
Value Set:
.... LN/81954-0 Date of death 0..1 date Definition: Patient.deceasedDateTime
Value Set:
.... LN/56799-0 Address 0..1 group Definition: Patient.address
Value Set:
..... HL7/PID-11-1 Address Line 0..* string Definition: Patient.address.line
Value Set:
..... HL7/PID-11-3 City 0..1 string Definition: Patient.address.city
Value Set:
..... LN/45401-7 Postcode 0..1 string Definition: Patient.address.postalCode
Value Set:
.... LN/46098-0 Sex registered at birth 0..1 choice Definition: Patient.gender
Value Set: AdministrativeGender
.... LN/32624-9 Ethnic Category 0..1 choice Definition: Patient.extension:ethnicCategory
Value Set: Ethnicity
.... LN/89061-6 NHS Number 0..1 string Definition: Patient.identifier:nhsNumber
Value Set:
.... LN/76435-7 Hospital Number (Medical Record Number) 1..1 string Definition: Patient.identifier:MedicalRecordNumber
Value Set:
.... LN/56797-4 Account Number (Episode or Stay Number) 0..1 string Definition: ServiceRequest.encounter.identifier.value
Value Set:
..... LN/56797-4-designNote PV1-19 (also known as stay number) 0..1 display Value Set:
.... ageAtCollection Age at collection (ignore for FHIR) 0..1 decimal Value Set:
.... LN/89009-5 Location 0..1 string Definition: Encounter.location
Value Set:
.... HL7/PD1-3 GP Surgery (ODS Code) 0..1 choice Definition: Patient.generalPractitioner
Value Set:
... HealthcareProfessional Healthcare Professional 0..1 group Definition: PractitionerRole
Value Set:
.... LN/18705-4 Referring Clinician Name 1..1 string Definition: PractitionerRole.practitioner.display
Value Set:
.... LN/18707-0 Referring Clinician Current Speciality 1..1 choice Definition: PractitionerRole.specialty.coding.code
Value Set: UK Core Practice Setting Code
.... LN/46608-6 Referring Clinician Professional Identifier 1..1 string Definition: PractitionerRole.practitioner.identifier.value
Value Set:
.... LN/89058-2 Email 0..* string Definition: PractitionerRole.telecom.value
Value Set:
.... LN/81230-5 Phone 0..1 string Definition: PractitionerRole.telecom.value
Value Set:
.... HL7/ORC-21 Referring Organisation ODS Code / Ordering Facility 0..1 string Definition: PractitionerRole.organization.identifier.value
Value Set:
... TestRequest Test Request 0..1 group Definition: ServiceRequest
Value Set:
.... SNM/15220000 Test Category 0..1 choice Definition: ServiceRequest.category
Value Set: Order Category
.... HL7/OBR-4-r Test Code (Rare and inherited diseases) 1..* choice Definition: ServiceRequest.code
Enable When: SNM/15220000 = Rare and inherited diseases Genetic Testing (procedure) (NW GMSA Codes#RareAndInheritedDiseasesGeneticTesting)
Value Set: Genomic Rare and Inherited Disease Test Directory
.... HL7/OBR-4-h Test Code (Haemoglobinopathy) 1..* choice Definition: ServiceRequest.code
Enable When: SNM/15220000 = Haemoglobinopathy Genetic Testing (procedure) (NW GMSA Codes#HaemoglobinopathyGeneticTesting)
Value Set:
Options: 5 options
.... HL7/OBR-4-c Test Code (Cancer) 1..* choice Definition: ServiceRequest.code
Enable When: SNM/15220000 = Cancer Genetic Testing (procedure) (NW GMSA Codes#CancerGeneticTesting)
Value Set: Genomic Cancer Test Directory
.... LN/106194-4 Test request ID/Order ID 0..1 string Definition: ServiceRequest.identifier:OrderIdentifier
Value Set:
.... LN/82768-3 Priority 0..1 choice Definition: ServiceRequest.priority
Value Set: Request Priority
.... NOS/GeneticistEmail Clinical Geneticist email 0..1 string Definition: Observation.valueString
Value Set:
.... NOS/GeneticistDepartmentEmail Clinical Geneticist department email 0..1 string Definition: Observation.valueString
Value Set:
.... PatientClinicalInformation Patient Clinical Information 0..1 group Value Set:
..... LN/51967-8 CITT code (Specific disease suspected/reason for testing) 0..* choice Definition: ServiceRequest.reasonCode
Value Set: Genomic Clinical Indication Codes
..... HL7/NTE-1 Relevant clinical information and family history 0..1 string Definition: ServiceRequest.note
Value Set:
... Specimen Specimen/Biopsy 0..1 group Definition: Specimen
Value Set:
.... HL7/SPM Sample collection status 0..1 choice Definition: Specimen.status
Value Set: SpecimenStatus
.... LN/80398-1 Specimen ID Number 0..1 string Definition: Specimen.identifier
Value Set:
..... LN/80398-1-designNote ORM v2.4 - OBX-3 = LOINC 80398-1 and OBX-2 = CE. OML v2.5.1 SPM-2 0..1 display Value Set:
.... Specimen/accessionIdentifier Lab DNA Number (If Known) 0..1 string Definition: Specimen.accessionIdentifier
Value Set:
.... LN/80398-1-ODS Pathology Laboratory Hospital/Trust ID (for Path Lab Sample/Stored DNA) 0..1 string Definition: Specimen.accessionIdentifier.assigner.identifier.value
Value Set:
.... LN/33882-2 Specimen Collection Date 0..1 dateTime Definition: Specimen.collection.collectedDateTime
Value Set:
..... LN/33882-2-designNote ORM v2.4 - OBX-3 = LOINC 33882-2 and OBX-2 = TS . OML v2.5.1 SPM-17 0..1 display Value Set:
.... LN/66746-9 Specimen Type 0..1 choice Definition: Specimen.type.coding.code
Value Set: Specimen Type
..... LN/66746-9-designNote ORM v2.4 - OBX-3 = LOINC 66746-9 and OBX-2 = CE. OML v2.5.1 SPM-4 0..1 display Value Set:
.... LN/74384-9 Anticoagulant/preservative? 0..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
.... LN/39111-0 Tissue source/organ of origin 0..1 choice Definition: Specimen.collection.bodySite
Value Set:
.... LN/3169-0 Specimen Volume/number of slides or scrolls 0..1 string Definition: Specimen.collection.quantity
Value Set:
.... OrderTracking Audit (Specimen Tracking) 0..1 group Definition: Specimen.collection
Value Set:
..... NOS/SampleReceived Date and time sample received in lab 0..1 date Definition: Specimen.receivedTime
Value Set:
..... NOS/SampleSent Date and time sample sent 0..1 date Definition: Observation.valueDateTime
Value Set:
..... NOS/TransportUsed Transport used 0..1 string Definition: Observation.valueString
Value Set:
..... LN/97209-1 Tracking number 0..1 string Definition: Specimen.identifier[ShipmentTrackingNumber]
Value Set:
..... NOS/SampleSentTo Sample sent to 0..1 string Definition: Observation.valueString
Value Set:
..... NOS/SampleSentToName Name of person who sent sample 0..1 string Definition: Observation.valueString
Value Set:

doco Documentation for this format

Options Sets

Answer options for HL7/OBR-4-h

  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R361.1
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R361.2
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R372.1
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R93.1
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R93.2

Answer options for LN/74384-9

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

Profile: Questionnaire

Patient

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

Patient surname*

Patient first name*

Date of birth*

Date of death

Address

Address Line

City

Postcode

Sex registered at birth

Ethnic Category

NHS Number

Hospital Number (Medical Record Number)*

Account Number (Episode or Stay Number)

PV1-19 (also known as stay number)

  • linkId: LN/56797-4-designNote
  • Answers:

Age at collection (ignore for FHIR)

  • linkId: ageAtCollection
  • Answers:

Location

GP Surgery (ODS Code)

Healthcare Professional

Referring Clinician Name*

Referring Clinician Current Speciality*

Referring Clinician Professional Identifier*

Email

Phone

Referring Organisation ODS Code / Ordering Facility

Test Request

Test Category

Test Code (Rare and inherited diseases)*

Test Code (Haemoglobinopathy)*

Test Code (Cancer)*

Test request ID/Order ID

Priority

Clinical Geneticist email

Clinical Geneticist department email

Patient Clinical Information

  • linkId: PatientClinicalInformation
  • Answers:

CITT code (Specific disease suspected/reason for testing)

Relevant clinical information and family history

Specimen/Biopsy

  • linkId: Specimen
  • Definition:: Specimen
  • Answers:

Sample collection status

Specimen ID Number

ORM v2.4 - OBX-3 = LOINC 80398-1 and OBX-2 = CE. OML v2.5.1 SPM-2

  • linkId: LN/80398-1-designNote
  • Answers:

Lab DNA Number (If Known)

Pathology Laboratory Hospital/Trust ID (for Path Lab Sample/Stored DNA)

Specimen Collection Date

ORM v2.4 - OBX-3 = LOINC 33882-2 and OBX-2 = TS . OML v2.5.1 SPM-17

  • linkId: LN/33882-2-designNote
  • Answers:

Specimen Type

ORM v2.4 - OBX-3 = LOINC 66746-9 and OBX-2 = CE. OML v2.5.1 SPM-4

  • linkId: LN/66746-9-designNote
  • Answers:

Anticoagulant/preservative?

Tissue source/organ of origin

Specimen Volume/number of slides or scrolls

Audit (Specimen Tracking)

Date and time sample received in lab

Date and time sample sent

Transport used

Tracking number

Sample sent to

Name of person who sent sample

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/81954-0 Definition: Patient.deceasedDateTime
Value Set:
... LN/56799-0 Definition: Patient.address
Value Set:
.... HL7/PID-11-1 Definition: Patient.address.line
Value Set:
.... HL7/PID-11-3 Definition: Patient.address.city
Value Set:
.... LN/45401-7 Definition: Patient.address.postalCode
Value Set:
... LN/46098-0 Definition: Patient.gender
Value Set: AdministrativeGender
... 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:
... LN/56797-4 Definition: ServiceRequest.encounter.identifier.value
Value Set:
.... LN/56797-4-designNote Value Set:
... ageAtCollection Value Set:
... LN/89009-5 Definition: Encounter.location
Value Set:
... HL7/PD1-3 Definition: Patient.generalPractitioner
Value Set:
.. HealthcareProfessional Definition: PractitionerRole
Value Set:
... LN/18705-4 Definition: PractitionerRole.practitioner.display
Value Set:
... LN/18707-0 Definition: PractitionerRole.specialty.coding.code
Value Set: UK Core Practice Setting Code
... LN/46608-6 Definition: PractitionerRole.practitioner.identifier.value
Value Set:
... LN/89058-2 Definition: PractitionerRole.telecom.value
Value Set:
... LN/81230-5 Definition: PractitionerRole.telecom.value
Value Set:
... HL7/ORC-21 Definition: PractitionerRole.organization.identifier.value
Value Set:
.. TestRequest Definition: ServiceRequest
Value Set:
... SNM/15220000 Definition: ServiceRequest.category
Value Set: Order Category
... HL7/OBR-4-r Definition: ServiceRequest.code
Enable When: Not done yet
Value Set: Genomic Rare and Inherited Disease Test Directory
... HL7/OBR-4-h Definition: ServiceRequest.code
Enable When: Not done yet
Value Set:
Options: 5 options
... HL7/OBR-4-c Definition: ServiceRequest.code
Enable When: Not done yet
Value Set: Genomic Cancer Test Directory
... LN/106194-4 Definition: ServiceRequest.identifier:OrderIdentifier
Value Set:
... LN/82768-3 Definition: ServiceRequest.priority
Value Set: Request Priority
... NOS/GeneticistEmail Definition: Observation.valueString
Value Set:
... NOS/GeneticistDepartmentEmail Definition: Observation.valueString
Value Set:
... PatientClinicalInformation Value Set:
.... LN/51967-8 Definition: ServiceRequest.reasonCode
Value Set: Genomic Clinical Indication Codes
.... HL7/NTE-1 Definition: ServiceRequest.note
Value Set:
.. Specimen Definition: Specimen
Value Set:
... HL7/SPM Definition: Specimen.status
Value Set: SpecimenStatus
... LN/80398-1 Definition: Specimen.identifier
Value Set:
.... LN/80398-1-designNote Value Set:
... Specimen/accessionIdentifier Definition: Specimen.accessionIdentifier
Value Set:
... LN/80398-1-ODS Definition: Specimen.accessionIdentifier.assigner.identifier.value
Value Set:
... LN/33882-2 Definition: Specimen.collection.collectedDateTime
Value Set:
.... LN/33882-2-designNote Value Set:
... LN/66746-9 Definition: Specimen.type.coding.code
Value Set: Specimen Type
.... LN/66746-9-designNote Value Set:
... LN/74384-9 Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
... LN/39111-0 Definition: Specimen.collection.bodySite
Value Set:
... LN/3169-0 Definition: Specimen.collection.quantity
Value Set:
... OrderTracking Definition: Specimen.collection
Value Set:
.... NOS/SampleReceived Definition: Specimen.receivedTime
Value Set:
.... NOS/SampleSent Definition: Observation.valueDateTime
Value Set:
.... NOS/TransportUsed Definition: Observation.valueString
Value Set:
.... LN/97209-1 Definition: Specimen.identifier[ShipmentTrackingNumber]
Value Set:
.... NOS/SampleSentTo Definition: Observation.valueString
Value Set:
.... NOS/SampleSentToName Definition: Observation.valueString
Value Set:

doco Documentation for this format

Test this Questionnaire

Try this questionnaire out:

Responses for this Questionnaire