Starting 1 January 2025, NHS England will commission CYP2C19 genotyping for patients undergoing treatment with mavacamten, a medication used to treat symptomatic obstructive hypertrophic cardiomyopathy.

This new service will be provided through the:

  • North West Genomic Laboratory Hub – Liverpool Genetics Laboratory
  • South West Genomic Laboratory Hub – Bristol Genetics Laboratory

These providers will take over responsibility for all genotyping requests for eligible patients receiving mavacamten treatment.

Background on Mavacamten and genotyping

Mavacamten has been routinely commissioned by NHS England since 5 December 2023, as outlined in NICE Technology Appraisal Guidance TA913. To support its use, CYP2C19 genotyping has been offered since 11 December 2023, enabling clinicians to tailor treatment to eligible patients.

The genotyping service is currently funded by the manufacturer of mavacamten, Bristol Myers Squibb (BMS).  The BMS-funded genotyping arrangements will continue until 31 December 2024.

Key information

From 1 January 2025, Trusts must follow the updated process for CYP2C19 genotyping:

  1. Request genotyping directly from the designated genomic laboratory provider for your region.
  2. Use the provider’s website to access instructions, including test request forms, sample requirements, and transportation guidelines.
  3. Send samples directly to the assigned genomic laboratory provider. Samples sent to the wrong provider or to local NHS Genomic Laboratory Hubs may cause delays.

Results will be sent to the contact details provided on the test request form, either to the referring clinician or a central service email address.

Key dates and actions for Trusts

  • Until 31 December 2024: Continue to use the BMS-funded genotyping services.
  • From 1 January 2025: Transition to appropriate provider as highlighted previously for CYP2C19 genotyping.
  • Ensure all samples and forms are sent directly to the correct genomic laboratory provider to avoid delays.

This transition represents an important step in integrating CYP2C19 genotyping into NHS England’s broader genomic services, ensuring long-term sustainability and efficiency for patients receiving mavacamten treatment. The cost of CYP2C19 genotyping will be covered through NHS England’s Genomics Unit in partnership with the two designated providers. However, Trusts will be responsible for covering transportation costs for samples sent to the genomic laboratories.

Further information and instructions about requesting CYP2C19 genotyping via the Liverpool Genetics Laboratory can be found here: https://mft.nhs.uk/nwglh/documents/test-request-forms/

Samples and test request forms must be sent to:

NHS North West Genomic Laboratory Hub – Liverpool site

Sample Reception (2nd Floor), Liverpool Women’s Hospital, Crown Street, Liverpool, L8 7SS.

 

For any queries, please email - mft.genomics@nhs.net or call 0151 702 4228.