Important: This is version 0.3.0. For the version history see Release notes

This specification is currently defined as in "Discovery" and as such is provided for consultation and discussion. This project is being developed using an agile approach so iterative updates to content will be added on a regular basis. It is anticipated that the message specification and implementation guidance will be updated further following First of Type (FoT) implementation.

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The FHIR Genomics IG Specification defines a set of draft HL7 FHIR R4 profiles to support the exchange of genetic testing requests and results. This release focuses on supporting improvements to the test ordering process for non-WGS and WGS genomic testing pathways identified to support piloting of a technical implementation to improve digital interoperability. Guidance on the content of results is restricted to return of a PDF using DiagnosticReport at this early stage, future releases will expand on structured genetic resulting data.

This Specification supports the ability to request genomic testing and receive results in NHS primary and secondary care settings. The scope of this guide is NHS England, though the rules and constraints defined are expected to apply to UK-wide Genomic Testing.

This Implementation Guide provides additional guidance, rules and constraints which extends the UK Core Implementation Guide, currently STU2, to allow exchange of structured electronic test requests and responses. It is anticipated that the messaging specification and implementation guidance will be updated following First of Type (FoT) implementation.

Potential future releases may include support for:

  • Other genetic pathways
  • Structured reporting of results
  • Pharmacogenomic data items
  • Secondary use



The scope of the interoperability project driving the FHIR specification is to enable electronic test requesting for all genomic tests (based on the Master Data Set (MDS)) to the receiving lab. The MDS has been built on an analysis of the data fields required by both the requester and lab, to accept and progress the test request. The MDS also reflects the NHS genomic medicine service Patient Level Contract Management (PLCM) dataset requirements (on-going process).

The scope is based on the transfer and consumption of data between organisational boundaries as defined in the National Genomic Testing Process (NGTP). The scope of the interoperability project will also encompass delivery of test and sample status updates between organisations.

The intention is to deliver a central broker component, which will coordinate the electronic comms required of each in-scope service mentioned. In addition, the broker would be made available to support automated test order routing from the requester to the receiving lab and allow manual routing between labs.