Updated National Genomic Test Directory

The updates (the first of three updates expected before April 2022), now live on the NHS England website (opens in a new tab), include new and amended tests on both the Rare and Inherited Disease Test Directory and eligibility criteria, as well as the Cancer Directory.

The expectation is that each GLH will work to deliver the updated test directory within three months of publication; thank you in advance for your patience with the Genomic Medicine Service as these updates are made operational across the country.

For the rare and inherited disease test directory, the most significant change is the inclusion of additional clinical indications for Whole Genome Sequencing (WGS). These broadly affect Neurology, Ophthalmology, Immunology, and Cardiology and can be viewed via the table provided on our East Genomics website. New or amended tests are noted within the directory (Column G) and also within the Eligibility Criteria document (a change log is also detailed on page 387).

For the cancer test directory, some changes have been introduced to the haemato-oncology section. However, these relate mainly to nomenclature alterations and to the amendment of entries to reflect pre-existing routine practice.

Within the Solid Tumour (adult) section, a test used for the identification of Lynch Syndrome - known as MLH1 promoter methylation - is now included for patients with endometrial cancer (Test number M215.2); this test is therefore now centrally funded. A handbook with helpful flowcharts (opens in a new tab) (see page 8, Option 1) has been developed to support the implementation of the Lynch Syndrome testing and surveillance pathways, should this be useful. There have also been some revised gene targets for select solid cancer indications and tests that are duplicated have been removed.

Thank you to those who have contributed to these updates. NHSE recognise this is the first time the directory has been updated; if you have any comments on the latest version please email england.testevaluation@nhs.net

If you have any questions in relation to test orders in the region please don't hesitate to get in to contact with us, on:

• emee.glh@nhs.net for any WGS enquires
• geneticslaboratories@nhs.net for any other enquiries

Further updates to test directory - deadline extended

• The deadline for the receipt of applications for the next update to the National Genomics Test Directory has been extended to 5pm on 29 October 2021.
• Further information concerning applications and updates to the Test Directory is available on the NHS England website (opens in a new tab)
• If you have any questions or require any further information at this stage, please email england.testevaluation@nhs.net

View East Genomics October newsletter

You can view our October newsletter for healthcare professionals - which contains the above article and others - here (opens in a new tab) or download the pdf version below.

If you did not receive this and would like to receive future issues please email lorna.hamblin@addenbrookes.nhs.uk