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.
Architecture
Each patient will have a self-contained Unified Genomic Record. A simplified logical model can be expressed as a folder tree. Each folder holds relevant data and metadata.
The data structure, storage type, and location within each folder may vary depending on the data requirements. The table below is an example of possible content of the UGR.
| Folder | Data Structure | Storage Type | Location |
|---|---|---|---|
| Demographics | JSON (FHIR) | FHIR Repository | NHS England |
| Genomic Test Request | JSON (FHIR) | FHIR Repository | NHS England |
| Genomic Test Reports | JSON (FHIR) | FHIR Repository | NHS England |
| Genomic Data | BAM, CRAM, VCF | Local/Cloud File Store | GLH or GEL |
| Family History | JSON (FHIR) | FHIR Repository | NHS England |
| Purpose Based Access Controls and Consent | JSON (CEDAR/FHIR) | FHIR Repository | NHS England |
| Audit | Logfile/FHIR | Cloud File Store/PARS | NHS England |
Genomic data is highly reusable, and it is possible to perform new genomic tests upon existing genomic data, e.g. through reanalysis and reinterpretation requests, negating the need to repeat a specimen collection and wet laboratory process. For this reason, test data can reference existing genomic data. The genomic data can be hosted in multiple places, and a FHIR document reference resource can refer to a GA4GH Data Repository Standard (DRS) location.