The National Diagnostics - Genetic Testing FHIR Messaging Specification supports the ability to request genomic testing and receive results in NHS primary and secondary care settings. This release focuses to support improvements to the test ordering process for non-WGS and WGS genomics testing pathways identified to support piloting of a technical implementation to improve digital interoperability.

The IG defines FHIR R4 payloads derived from the UK Core to allow 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

Definition of Terms

When describing genetic tests different regions and professions sometimes use different words to describe the same entities. Therefore, for the avoidance of confusion, within the context of this guidance the following terms have these definitions:

  • Home GLH (Home Genomic Laboratory Hub) - The national genomic testing service is delivered through a network of seven Genomic Laboratory Hubs (GLHs), each responsible for coordinating services for a particular part of the country.
  • GTODS (Genomics Test Order Data Set) – The information that needs to be included to inform a laboratory of what is required for a given diagnostic genomics test.
  • Test result - this is the result that has been provided by the laboratory or other provider.