New landmark in genetic testing announced this week
From 20th January 2025, genetic testing is now available for NHS patients who have a certain type of breast cancer in order to determine if they are eligible for a new drug called elacestrant.
Eligibility for treatment with elacestrant requires genetic testing to determine if the breast tumour has an ESR1 gene variant. This test must be performed through a new technology which enables testing to be performed on circulating tumour DNA (ctDNA) from a blood sample, with no need for a biopsy.
The background
In December 2024 NICE published a new recommendation for the use of elacestrant in the treatment of breast cancer across England.
The guidance from NICE 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 cyclindependent 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.”
Following that decision, elacestrant became available through the Cancer Drugs Fund.
In order to be prescribed with elacestrant, patients must have the ESR1 gene variant which means they require genetic testing to identify the gene variation. The license states that genetic testing will be carried out via plasma testing only, not tumour testing.
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.
How do I get the test for my patients?
The test is now available for free for NHS patients in England at no cost to the referring Trust.
Initially, this test will be performed by the North Thames Genomic Laboratory Hub for all patients in the South East of England. In the future, more laboratories will be commissioned as the service expands.
The unique genetic test directory code is M3.13. You will need a specific blood kit to collect the sample, which you can request directly from the North Thames Lab. Please note, blood kits are specific to the testing technology method, so please ensure that the correct blood kit is used.
Contact the lab at Marsden360@rmh.nhs.uk
Do you still have questions?
