The national genomic test directory specifies which genomic tests are commissioned by the NHS in England and the patients who are eligible to access to each test. The directory is regularly updated and clinicians should check the current version of the directory before referring patients.
Access the current edition of the directory (opens in a new tab)
Updates to the directory are made once they are approved by the NHS and are summarised below. From the time of the update, it can take up to three months for significant changes and new tests to become fully available. This is due to the time it can take to develop, implement and verify new testing procedures.
Non-urgent advice: Update: May 2025
The latest changes and clarifications to the cancer test directory are summarised below. We aim to implement these changes as quickly as possible.
- NSCLC (M4.14) – New circulating tumour DNA (ctDNA) blood test (Not available via East Genomics; see below for specific referral guidance).
- Breast cancer (M3.6 and M3.13) – Additional gene targets. M3.6 now includes AKT1 and PTEN. M3.13 now includes PIK3CA, AKT1 and PTEN. Eligibility criteria amended to guide treatment for adults with hormone receptor-positive, HER2-negative locally advanced or metastatic breast cancer after endocrine treatment.
- Bladder/urothelial cancer (M217) – Eligibility criteria have changed. Tests should be requested only where results can inform diagnosis or management.
IMPORTANT: NSCLC ctDNA test (M4.14) routing pathway
Following a limited pilot, multi-target ctDNA testing for non-small cell lung cancer (NSCLC) has been added to the directory. ctDNA testing allows detection of cancer DNA via blood test. Test kits must be requested to enable correct sample collection.
Please do not request this test from East Genomics, referrers in our region should request a test kit via the Marsden360 website or email Marsden360@rmh.nhs.uk.
Blood kits used for this test are specific to the method employed by the designated GLHs, therefore it is paramount that the correct blood kit is used for test routing.
Non-urgent advice: Update: January 2025
Genomic testing for ESR1 variants in oestrogen receptor positive HER2-negative advanced breast cancer (Test M3.13 - read below for specific referral requirements).
Following the publication of NICE Technology Appraisal Final Draft Guidance: Elacestrant for treating oestrogen receptor positive HER2-negative advanced breast cancer with an ESR1 mutation after endocrine treatment, plasma testing is being made available via certain NHS genomic medicine services (see below).
20 January 2025: Interim ESR1 genomic sample routing pathway
NICE in their Final Draft Guidance (FDG) published on 19 December 2024 has stated that:
Elacestrant is recommended as an option for treating oestrogen receptor (ER)-positive HER2-negative locally advanced or metastatic breast cancer with an activating ESR1 mutation that has progressed after at least 1 line of endocrine therapy plus a cyclin-dependent kinase (CDK) 4 and 6 inhibitor if the cancer has progressed after at least 12 months of endocrine treatment plus a CDK 4 and 6 inhibitor.
Elacestrant became available via the Cancer Drugs Fund (CDF) from 19 December 2024 in line with these recommendations and according to a set of treatment criteria which translates the NICE recommendation into a clinical guide for use in practice.
The license for elacestrant requires identification of ESR1 variants from plasma only. Tumour tissue testing is not included in the current license. Testing for ESR1 variants in breast cancer therefore requires the genomic test to be performed on circulating tumour DNA (ctDNA) derived from a blood sample rather than a tissue sample.
ESR1 genomic test information
The National Genomic Test Directory has been updated to include ctDNA testing for ESR1 (Test code: M3.13).
Initially testing is only available through specific GLHs. Do not send requests for this test to East Genomics.
Urgent advice: Important information for ordering ESR1 plasma testing
The blood kits available from each GLH are specific to the testing method employed by the designated GLHs, therefore it is paramount that the correct blood kit is used for test routing.
Clinicians in the East Genomics region are required to refer samples to the North Thames GLH.
This is an interim arrangement and we will provide more details here when a long-term arrangement is in place.
Resources
To support this new testing pathway, education and training webinars have been delivered and the recordings are available on the North West GLH and North Thames GMS websites:
ESR1 Breast ctDNA Testing Education Session (correct as of 16 January 2025)
Link: https://youtu.be/aeJvwBOeN64?si=VVRry37yF_BRbn3e
To access blood kits, documentation, and for any other information about ESR1 ctDNA testing please use the contact email below:
GLH North Thames
Email: Marsden360@rmh.nhs.uk
GLH website: Marsden360@rmh.nhs.uk (opens in a new tab)
GMS website: www.norththamesgenomics.nhs.uk (opens in a new tab)
Address:
Clinical Genomics
The Centre for Molecular
Pathology
The Royal Marsden NHS
Foundation Trust
Cotswold Road
Sutton Surrey
SM2 5PT