Review of FHIR Genomics Implementation Guide

The NHS England Genomics Unit invites you to take part in the first review of the NHS England Genomics FHIR Implementation Guide.

Review Information

This review opens on Friday 6th of October 2023, and closes at the end of Friday 3rd of November. This review is for what is intended to become the first beta version of the Genomics Implementation Guide DSTU (draft standard for trial use).

It follows on from a successful UK Core ballot earlier this year, which will produce the UK Core STU2, the pre-release of this is currently being used as the basis for the conformance assets in this implementation guide. This is in turn based on FHIR release 4 (R4).

This Implementation Guide adds scope, guidance, patterns and FHIR examples to aid implementation of, and against, the proposed National Genomic Order Management solution. The scope of the Implementation Guide covers Genomic Test Request flows, Test and Sample status updates and reporting though binary PDF documents. Structured reporting guidance will be developed in future phases. This guidance is documented in the linked Simplifier Implementation Guide:

Why Review?

This review is a formal opportunity to comment on a draft Standard. Feedback received is used to improve the standard, as agreed by a consensus group, and if enough positive feedback is obtained, the draft can progress towards being part of a final published standard. This typically takes several cycles of feedback over the course of time.

This is a review to move the Implementation Guide into DSTU (Draft Standard for Trial Use) status. The material is seeking to be approved as a draft standard for implementation.


All those invited are encouraged to engage in this important process by commenting and discussing. We also welcome comments from the wider interoperability standards community or interested parties, though while all comments will be considered, these are not binding on the process and final output of the DSTU IG.

The material for review is here:

It includes a descriptive scope on the first page, but at a very high level it is a set of guidance around the UK Core FHIR profiles for appropriate population of resources within the context of Genomics and is intended to help implementers use FHIR in UK Genomic Order Management settings.

The material is based on FHIR® Release 4 (see and a working knowledge of FHIR will be needed for it to be understandable.

For some details of what FHIR profiles are in general see

Commenting and Voting

Comments and their subsequent discussion are to be recorded on issues against the Genomic project in Simplifier: (it is advised that commenters create an issue on the specific resource which pertains to the issue, to aid triage). Alternatively, comments can be emailed to Ravi Natarajan,, cc Omar Khan, for inclusion in the issue log.

To be considered, comments must be received before midnight on the last day of the review period. You can withdraw comments, if you wish to, by closing the issue on Simplifier.

Review of the comments will be performed by the NHS England Genomics Unit. Upon review each comment will be given an individual vote type (Affirmative or Negative, and some subtypes).


The aim of this review is for the UK FHIR/Genomics community to provide feedback on this material. Any and all comments are welcome, whether from systems suppliers, GLH/GMSA stakeholders, or the wider interoperability community.

Comments will be formally reviewed after the end of the review period (starting November 2023). Affirmative comments can also be questions about the specifics of the material.

More general questions can be asked informally directly to Ravi Natarajan and Omar Khan by email.

Version numbers

Note that the “for comment” version is labelled 0.2.0, until it is approved to go to 1.0.0 after the ballot. Also note that “DSTU” or the version numbers used for the implementation guide do not refer in any way to a specific version of FHIR e.g. FHIR version 2 (DSTU 2, as it was known).

We look forward to your participation. Thanks to all of those involved in preparing the material and supporting documentation.

Genomics Unit

Many thanks for all the review comments received. The IG has now been updated to reflect feedback. The new version can be found at (currently version 0.3.0).
Version 0.2.0 has now been made private.