FHIR API

Composition

The main resource type supporting implementation of the UGR will be the Genomics-Composition resource. This resource aligns with existing Summary Care Record implementations and mirrors the EU Patient Summary guidance, in which sections are defined for different clinical data categories (for example, laboratory reports and patient demographics), each containing references to the relevant resources.

It is expected that the UGR could be represented as a section under a more general patient summary, though details of whether aspects of the UGR will be represented as a standalone component or separated within relevant sections of a wider single patient record, e.g. aligned to the International Patient Summary, are pending finalisation of the SPR design. When the UGR is integrated into a single patient record, the generation of the Composition resource will follow the selected system's approach.

The implementation approach is that a Composition resource will be generated and updated automatically by the UGR system following addition of resources referencing a patient, e.g. upon submission of a request to the Order Management service, or an unsolicited result. In this case, the Order Management service would persist the information on the UGR, triggering the creation of a Composition resource which acts as the manifest for the Genomics related data. The UGR Composition always represents the current state of the unified genomic record. Other services, such as the National Care Record Service (NCRS), can then retrieve the Composition resource and generate a FHIR document using the $document operation.

Consequently, the Composition endpoint is read-only, the composition lifecycle is server controlled and the central authority (NHS England) owns the records. Create and update operations are performed through the clinical resource endpoints, together with the Consent (for data access permissions) and RelatedPerson (for linkage of UGRs) only, though this may be integrated with the OM and SPR APIs. This prevents clients from directly modifying the Composition resource, reducing the risk of inconsistent or overwriting information.

This is illustrated in the below sequence diagram (assuming a single unified Genomic Digital Service entry point, and also incorporating notifications via the Multicast Notification Service):

The sections included within the UGR are coded using UK Core Record Standard Headings CodeSystem, as follows (Note: these may need to be aligned to IPS section headings depending on where the UGR sits within the wider Single Patient Record):

Section Title Code Entry Resource Type
Patient demographics patient-demographics Patient (may reference the NHS identifier where the patient is registered in PDS)
Investigations and procedures requested investigations-and-procedures-requested ServiceRequest
Investigation results investigation-results DiagnosticReport (this resource will link off to the various Genomic Data Files and Observations, Note: a separate section for genomic data and observations irrespective of the report/request which generated this is currently being investigated, e.g. for on demand CDS)
Consent for information sharing consent-for-information-sharing Consent
Family history family-history RelatedPerson/FamilyMemberHistory
TBC:
Alerts		 alerts Expected to reference a Flag resource to record considerations for treatments, e.g. for medication, based on genetic results.

An example of a UGR record can be found at Composition-UGR-Example

Type and Category

To appropriately categorise the UGR alongside other Compositions and Documents, the type and category SHALL be fixed as represented below.

"type": {
  "coding": [
    {
      "system": "http://snomed.info/sct",
      "code": "824321000000109",
      "display": "Summary record"
    }
  ]
},
"category": [
  {
    "coding": [
      {
        "system": "http://snomed.info/sct",
        "code": "321401000000106",
        "display": "Genomics"
      }
    ]
  }
],

Author and Custodian

As the UGR is created and managed by NHS England, the author and custodian elements will be fixed to the X26 ODS code.

"author": [
  {
    "identifier": {
      "system": "https://fhir.nhs.uk/Id/ods-organization-code",
      "value": "X26"
    }
  }
],
"custodian": {
  "identifier": {
    "system": "https://fhir.nhs.uk/Id/ods-organization-code",
    "value": "X26"
  }
},

Section

To better conform to the EU Patient Summary (EPS) Implementation Guide, section.text has been added to provide a human-readable HTML representation of the UGR sections.
An example is provided below.

"section": [
  {
    "title": "Patient demographics",
    "code": {
      "coding": [
        {
          "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-RecordStandardHeadings",
          "code": "patient-demographics",
          "display": "Patient demographics"
        }
      ]
    },
    "text": {
      "status": "generated",
      "div": "<div xmlns=\"http://www.w3.org/1999/xhtml\">Pheobe Smitham, Female, DOB: 2013-09-27</div>"
    },
    "entry": [
      {
        "identifier": {
          "system": "https://fhir.nhs.uk/Id/nhs-number",
          "value": "9449307539"
        }
      }
    ]
  },

Other Fixed Elements

  • status SHALL have a fixed value of final
  • title SHALL have a fixed value of Unified Genomic Record Summary
  • confidentiality SHALL have a fixed value of R due to the sensitivity of the data within the UGR