FHIR Genomics Implementation Guide

This guidance is under active development by NHS Digital and content may be added or updated on a regular basis.
Note: This is an upcoming version of the capability which has not yet been implemented by receiving systems. The current version of this capability which supports consultation summaries can be found using this link.

A brief description of the implementation guide.

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.

For further information please contact: england.contactus@nhs.net

The FHIR Genomics IG Specification defines a set of draft HL7 FHIR R4 profiles to support the exchange of genetic testing requests and results.

The following are currently outside the scope of this work:

  • Laboratory to laboratory communications - Send Aways
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