The National Genomic Test Directory

See the latest National Genomic Test Directory

A central feature of the NHS Genomic Medicine Service (GMS) is the National Genomic Test Directory (Test Directory) which outlines the full range of genomic tests that are commissioned for the NHS in England. The Test Directory sets out the genomic tests that are available and the patients who are eligible to access a test. To keep pace with scientific and technological advances, while delivering value for money for the NHS a robust and evidence-based process and policy is in place to ensure that genomic testing continues to be available for all patients for whom it would be of clinical benefit.

Updating the National Genomic Test Directory – the process

The Test Directory is updated following a structured, evidence-based process described in the NHS England policy document for Updating the National Genomic Test Directory.

Anyone can submit an application to update the Test Directory, this may be to consider new test targets, clinical indications, and/or changes to existing tests on the Test Directory. The evaluation of applications to update the Test Directory includes an assessment of the clinical utility, scientific validity and unmet need and benefit to patients evidenced by the latest data. The overall process is supported by clinical and scientific experts and patient and public voice representatives.

Applicants should note that:

  • Applications to consider proprietary technologies will not be evaluated via the NHS England process for updating the Test Directory. The only circumstances in which the Test Directory may specify a proprietary technology is when this has been assessed and recommended by NICE; in this circumstance the inclusion of the proprietary technology in the Test Directory is to reflect alignment with NICE’s guidance.
  • We do not require applications to make changes to the Test Directory that are due to a change in NHSE urgent policy statements or due to recommendations by the National Institute for Health and Care Excellence (NICE), where a genomic test forms part of the access criteria for a drug or as a diagnostic companion test.  Updates to the Test Directory linked to these types of decisions will be made without the need for an application to be submitted.

Updating the National Genomic Test Directory – application submission and evaluation

Key steps in the process

  • Application window closes
  • Applications reviewed by NHS England and Test Evaluation Working Groups​
  • Impact assessment with Genomic Laboratory Hubs ​
  • Assurance and governance approvals​
  • Genomic Laboratory Hub implementation starts​
  • Test Directory published and Genomic Laboratory Hubs ​implement changes

Applications that meet the fast-track criteria will be considered at any point throughout the annual process. The process for submitting a Fast Track application is detailed in the ‘Fast Track process’ section below.​

Application forms and further guidance for applicants are available in the Documentation section below. Please submit relevant application forms (i.e. request for a new clinical indication or an amendment to a clinical indication) to the Genomics Unit at england.testevaluation@nhs.net. Incomplete applications will result in a delay to the review process and inclusion onto Test Directory.

NHS GMS gene panel content

Requests to change gene content for Rare and Inherited Disease Clinical Indications should be made by leaving reviews on the Genomics England PanelApp. Details on how to submit reviews are available here.

NHS England is reviewing the timelines for using the PanelApp process to update NHS GMS gene panel content. This website will be updated with further information concerning PanelApp review timelines once these have been confirmed. In the interim, please continue to submit reviews via the PanelApp website.

Fast track process

A fast track evaluation process for applications to amend the Test Directory is provided to support amendments that may be identified as requiring urgent implementation AND meet one of the criterion below:

  • A factual error that needs to be corrected
  • Guidance or clinical policy requires the amendment (eg NHS clinical commissioning position) and/or there is a statutory responsibility to implement (eg recommendations from NICE technology appraisals)
  • An urgent change is needed as a result of a national emergency response (eg. pandemic).

Please submit the relevant application form (i.e. request for a new clinical indication or an amendment to a clinical indication) in addition to the fast track form to the Genomics Unit to england.testevaluation@nhs.net.

Incomplete applications will result in a delay to the review process and inclusion onto Test Directory.

Horizon scanning

NHS England undertakes ongoing horizon scanning to identify potential future changes to the Test Directory, linked to NICE guidance in development and/or urgent policy statements issued by NHS England.

To support this horizon scanning, stakeholders can notify NHS England of activity which may result in a future change to the Test Directory via the notification form provided below. Please submit the completed horizon scan notification form to england.testevaluation@nhs.net.

Further information on this process and relevant documentation can be found in the documentation section below.

Documentation

The Policy document, Guidance document and FAQs document are currently being updated to support the above guidance. In the interim, please continue to submit applications using the current forms.