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National Genomic Test Directory

The National Genomic Test Directory specifies which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who will be eligible to access to a test.

The National Genomic Test Directory (opens in a new tab) is hosted on the NHS England website.

Included is the:

  • National Genomic Test Directory for Rare and Inherited Disease
  • Rare and Inherited Disease Eligibility Criteria
  • National Genomic Test Directory for Cancer

The National Genomic Test Directories are regularly updated. Details of the latest updates to the National Genomic Test Directory (opens in a new tab) can be found on our update pages, linked on the right hand side of this page.

Please always use the live versions on the NHS England website (opens in a new tab).

Updating the National Genomic Test Directory

Anyone can apply to update the Test Directory, whether to consider new test targets, clinical indications and/or changes to the existing tests. The evaluation of applications to update the Test Directory will include an assessment of the clinical utility, unmet need and benefit to patients evidenced by the data. The process involves clinical and scientific experts, and patient and public voice representatives, ensuring patients are involved in all decisions.

More information and application forms (opens in a new tab) are available here.

Updating Gene Panel Content

The main Genomics England PanelApp (opens in a new tab) knowledge base is used to collate gene-disease association evidence for the Genomic Medicine Service (GMS) and other projects. GMS gene panels can be identified by the Clinical Indication R code and the blue bar at the top of the panel webpage.

Approved reviewers can add evidence for a gene or suggest that additional genes should be added to a panel. Changes to the GMS panel content will be evaluated through the genomic test evaluation process and will only be added to the GMS panels following approval through the NHS England and NHS Improvement process.

You can register to be a PanelApp reviewer here (opens in a new tab).

If you have any questions regarding this information, please email england.testevaluation@nhs.net