StructureDefinition UKCore-DiagnosticReport

The requirements of a specific Genomics DiagnosticReport is currently under review.

The draft profile is provided below for completeness.

Currently, only requirements for initial Pathology reports, provided with a test order, have been reviewed. DiagnosticReports containing the results of genomic testing are expected to be attached/provided as PDF documents during the alpha phase of the GMS development programme.

It is expected structured DiagnosticReports will mimic the structure proposed within the HL7 International Genomic Reporting IG, though customizations for use within the UK still need to be investigated.

Genomic DiagnosticReports which have been updated post submission SHALL be accompanied by Provenance resources, referencing the DiagnosticReport which detail when the resource was changed, who made the change and why.

Profile url FHIR Module Normative Status
https://fhir.hl7.org.uk/StructureDefinition/UKCore-DiagnosticReport UKCore trial-use

idΣ0..1string
metaΣ0..1Meta
implicitRulesΣ ?!0..1uri
language0..1codeBinding
text0..1Narrative
contained0..*Resource
id0..1string
extensionI0..*Extension
url1..1uriFixed Value
valueReferenceReference(Composition)
id0..1string
id0..1string
extensionI0..*Extension
url1..1uriFixed Value
valueStringstring
id0..1string
extensionI0..*Extension
url1..1uriFixed Value
valueReferenceReference(UKCoreDocumentReference)
url1..1uriFixed Value
id0..1string
extensionI0..*Extension
url1..1uriFixed Value
valueAnnotationAnnotation
id0..1string
id0..1string
extensionI0..*Extension
url1..1uriFixed Value
valueCodeableConceptCodeableConcept
id0..1string
extensionI0..*Extension
url1..1uriFixed Value
valueReferenceReference(Procedure | Observation | DiagnosticReport)
url1..1uriFixed Value
modifierExtension?! I0..*Extension
identifierΣ0..*Identifier
basedOnI0..*Reference(CarePlan | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)
statusS Σ ?!1..1codeBinding
categoryS Σ0..*CodeableConcept
codeS Σ1..1CodeableConceptBinding
subjectS Σ I0..1Reference(Patient | Group | Device | Location)
encounterS Σ I0..1Reference(Encounter)
effectiveDateTimedateTime
effectivePeriodPeriod
issuedS Σ0..1instant
id0..1string
deviceReferenceI0..1Extension(Reference(Device))
referenceΣ I0..1string
typeΣ0..1uriBinding
identifierΣ0..1Identifier
displayΣ0..1string
id0..1string
deviceReferenceI0..*Extension(Reference(Device))
referenceΣ I0..1string
typeΣ0..1uriBinding
identifierΣ0..1Identifier
displayΣ0..1string
specimenI0..*Reference(Specimen)
resultS I0..*Reference(Observation)
imagingStudyI0..*Reference(ImagingStudy)
id0..1string
extensionI0..*Extension
modifierExtensionΣ ?! I0..*Extension
comment0..1string
conclusion0..1string
conclusionCode0..*CodeableConceptBinding
presentedFormI0..*Attachment


FHIRMDSHL7v2
DiagnosticReportPrevious Genomic Report, Previous Diagnostic ReportOBX
DiagnosticReport.effectiveDateTimePLCM activity - Date and time dataset created, PLCM activity - Turnaround time (calendar days), Previous genomic report - Test performed date, Previous non genomic report - Test performed dateDerived from OBR-7 in the ORU response message for the activity based on the OML request, OBX-19
DiagnosticReport.identifierPLCM activity - Local report identifier, Previous genomic report - Report identifier, Previous non genomic report - Report identifierOBR-3 for report
DiagnosticReport.resultPLCM activity - Test outcome code (Many), Previous non genomic report - Test result value comparator, Previous non genomic report - Test result value unit of measure, Previous non genomic report - Test result reference range low, Previous non genomic report - Test result reference range high, Previous non genomic report - Test result test method, Previous non genomic report - Test result reference range text, Previous non genomic report - Test result clinical summaryOBX-3 elements for resulting report, OBX-5, OBX-6, OBX-7 (before operator), OBX-7 (after operator), OBX-17, OBX-7, OBX-8
DiagnosticReport.conclusionPrevious genomic report - Report referral summary, Previous non genomic report - Report referral summaryOBX-5
DiagnosticReport.presentedFormPrevious genomic report - Report file/link, Previous non genomic report - Report file/linkOBX-5 where OBX-2=ED or RP
DiagnosticReport.subjectPrevious genomic report - Patient's first name, Previous genomic report - Patient's surname, Previous genomic report - Patient's address, Previous genomic report - Patient's post code, Previous genomic report - Patient's country, Previous genomic report - Patient's date of birth, Previous genomic report - Patient's NHS number, Previous genomic report - Patient's alternative identifier, Previous genomic report - Patient's relationship to requesting patient, Previous genomic report - Patient's clinical genetics number, Previous genomic report - Patient's pedigree numberPID attached to Patient Prior
DiagnosticReport.basedOnPrevious genomic report - Report lab test number, Previous genomic report - Original requester full name, Previous genomic report - Original requester organisation ODS code, Previous genomic report - Original requester reason for request, Previous non genomic report - Original requester full name, Previous non genomic report - Original requester organisation ODS code, Previous non genomic report - Original requester reason for requestORC-2, ORC-12, ORC-21.10, ORC-16
DiagnosticReport.conclusionCodePrevious genomic report - Report of genetic analysis, Previous non genomic report - Report resultOBR-5
DiagnosticReport.performerPrevious genomic report - Report performer full name, Previous genomic report - Report performer organisation ODS code, Previous non genomic report - Report performer full name, Previous non genomic report - Report performer organisation ODS codeOBX-16, OBX-23.10
DiagnosticReport.codePrevious non genomic report - Test typeOBR-4

Additional Guidance

extension:mediaR5

TBC. Only relevant for structured genomic reports. Reference to DocumentReference resources pointing to the Genomic Data Files used as the basis for the report. Usage of this field over extension:supporting-info is pending further investigation.
"extension" : [
        {
            "url" : "http://hl7.org/fhir/5.0/StructureDefinition/extension-DiagnosticReport.media.link",
            "extension" : [
                    {
                        "url" : "link",
                        "valueReference": {
                            "reference" : "DocumentReference/DocumentReference-PharmCAT-Example"
                        }
                    }
                ]
            }
        }
    ],

extension:recommended-action

TBC. Only relevant for structured genomic reports (included in the [Genomic Report Profile in the Genomics Reporting IG](https://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-genomic-report.html)). Reference to Task resource indicating recommended action to take in response to the report's result/conclusion.
"extension" : [
        {
            "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
            "valueReference" : {
                "reference" : "Task/MedicationRecommendationExample1"
            }
        }
    ],

extension:genomic-study

TBC. Only relevant for structured genomic reports (included in the [Genomic Report Profile in the Genomics Reporting IG](https://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-genomic-report.html)). Reference to Procedure resources indicating the analyses performed as part the genomic test order.
"extension" : [
    {
      "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference",
      "valueReference" : {
        🔗 "reference" : "Procedure/PGXGenomicStudy"
      }
    }
  ]

extension:supporting-info

TBC. Only relevant for structured genomic reports (included in the [Genomics Report IG Genomic Report Profile](https://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-genomic-report.html)). Reference to the genomic data files analysed as part of the test order, forming the report. Reference to DocumentReference resource which links to the binary data file. ```json "extension" : [ { "url" : "http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo", "valueReference" : { "reference" : "DocumentReference/DocumentReference-PharmCAT-Example" } } ], ```

extension:workflow-relatedArtifact

TBC. Only relevant for structured genomic reports (included in Genomic Report Profile in the Genomics Report IG) . A reference to the guidelines or other knowledge artifacts which were used to guide interpretation or recommended actions included within this DiagnosticReport.

If entries constitute published papers, they SHOULD be referenced using a known citation style, e.g. Vancouver/Harvard. Alternatively for online texts, these MAY be referenced via URL only.

A fixed value of 'citation' is expected for the type element, though this recommendation is pending further use cases.

"extension" : [
        {
            "url" : "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact",
            "valueRelatedArtifact" : {
                "type" : "citation",
                "url" : "https://cpicpgx.org/guidelines/guideline-for-clopidogrel-and-cyp2c19)"
            }
        }
    ],

basedOn

SHOULD reference the originating ServiceRequest if this is an instance of a genomic diagnostic report resulting from a GMS test order.
"basedOn":  [
        {
            "reference": "ServiceRequest-SavedTestOrder-Example"
        }
    ],

status

SHALL use base HL7 codes for DiagnosticReport.status. A DiagnosticReport SHOULD only be marked as final if the report is complete and verified by an authorised person.
 "status": "final",

code

SHOULD use a record artifact concept from SNOMED CT where an appropriate code exists, else text is preferred to indicate the document type.
"code": {
        "coding":  [
            {
                "system": "http://snomed.info/sct",
                "code": "4321000179101",
                "display": "Hematology report (record artifact)"
            }
        ]
    },

subject

SHALL be present. Reference to the associated Patient. This MAY be through a resource reference if the ID on the central service is known (or provided within the transaction bundle) or through NHS number where this is known and has been traced through PDS
"subject": {
        "reference": "Patient/Patient-MeirLieberman-Example",
        "identifier": {
            "system": "https://fhir.nhs.uk/Id/nhs-number",
            "value": "9449307873"
        }
    },

performer

SHOULD reference the organization responsible for the testing, preferably by ODS code.
"performer":  [
        {
            "identifier": {
                "system": "https://fhir.nhs.uk/Id/ods-organization-code",
                "value": "REP"
            }
        }
    ],

resultInterpreter

SHOULD reference the person responsible for interpreting the raw results, preferably by a recognised NHS identifier, such as SDS code.
"resultsInterpreter":  [
        {
            "identifier": {
                "system": "https://fhir.nhs.uk/Id/sds-user-id",
                "value": "999999999999"
            }
        }
    ],

specimen

SHOULD reference the specimen used during testing to generate the report, if the document is a Genomic report.
"specimen":  [
        {
            "reference": "Specimen/Specimen-BloodEDTA-Example"
        }
    ],

conclusionCode

If possible, unstructured reports wrapped within DiagnosticReports, SHOULD contain a conclusionCode element indicating the coded finding from the report, to aid analytics.
"conclusionCode":  [
        {
            "coding":  [
                {
                    "system": "http://snomed.info/sct",
                    "code": "738542003",
                    "display": "Dihydropyrimidine dehydrogenase poor metabolizer (finding)"
                }
            ]
        }
    ],

presentedForm

Genomic reports SHALL include a presentedForm element either referencing the location of the PDF report (located and accessible on either the source/client system or via NRL using appropriate authentication) or include the PDF report as a base64 encoded attachment within the message payload.

Note: this guidance may change in the future as work on Structured Reporting matures

"presentedForm": [
        {
            "url": "https://example.com/GenomicReports/ExampleReport.pdf"
        }
    ]

result

Raw results included within the report, to aid interpretation. These SHOULD take the form of Observation references, if providing a structured report.
"result" : [
        {
            "reference" : "Observation/TherapeuticImplicationExample1",
            "display" : "impact for high risk allele"
        },
        {
            "reference" : "Observation/GenotypeExample1"
        },
        {
            "reference" : "Observation/OverallInterpExample1"
        }
    ]