Notice
- Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
- This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.
Data Access and Search Guidance
The Unified Genomic Record (UGR) is exposed as a FHIR Composition-based summary, structured into sections (e.g., demographics, investigations requested, results, consent, family history).
Direct care
For direct care, the UGR supports record retrieval only for a known patient. Patient discovery is out of scope and MUST be performed externally via PDS. API clients MUST supply an NHS Number or a local identifier (non-NHS Patient) previously registered via the Central Genomic Order Management System.
Supported search pattern:
Option A Clients SHALL retrieve the UGR via the Composition resource and then resolve each section.entry reference as needed. Required SearchParameters
- Composition.subject:identifier (NHS Number or local identifier)
- Composition.status=final
- Composition.type=824321000000109 (Summary record)
- Composition.category=321401000000106 (Genomics)
Example:
GET /Composition?subject:identifier=https://fhir.nhs.uk/Id/nhs-number|9449307539&type=http://snomed.info/sct|824321000000109&category=http://snomed.info/sct|321401000000106&status=final&_sort=-date&_count=1
Option B
Generate a complete UGR Document Bundle via Composition/$document operation as per Composition document.
Cohort / Population Search
For population health, management information, and research, cohort access SHALL use bulk query APIs, separate from the direct care endpoints. Searches MAY be performed using cohort-level criteria (e.g. genomic variants, conditions), and results SHALL be pseudonymised or anonymised and meet minimum cohort size thresholds to prevent re-identification. The minimum threshold is under review, TBC.
To protect confidentiality, queries that risk identifying individuals (e.g. highly specific rare disease searches scoped to small geographic areas) SHALL be rejected. E.g. You cannot search for a patient in a single post-code with a rare disease.
All queries MUST operate under Purpose-Based Access Control (PBAC), with explicit declaration of purpose (e.g. research, population health).