Pharmacogenomics

Pharmacogenomic testing for DPYD polymorphisms with fluoropyrimidine therapies

The recently published NHS England and NHS Improvement urgent clinical policy statement for pharmacogenomic testing for DPYD polymorphisms with fluoropyrimidine therapies, follows recommendations issued by both the European Medicines Agency and the Medicines and Healthcare products Regulatory Agency. 

The urgent clinical policy statement states that:

  • All patients, prior to commencing treatment with a fluoropyrimidine based therapy (5-fluorouracil, capecitabine or tegafur) should be screened for four DPYD gene variants which have been associated with fluoropyrimidine-associated toxicity.
  • Within the clinical pathway, the genomic test should be ordered for eligible patients at the point of consent for fluoropyrimidine chemotherapy or earlier if appropriate.
  • Guidance for clinicians on dosing adjustments for fluoropyrimidine therapy following detection of a DPYD variant has been published by the UK Chemotherapy Board to support implementation of the policy.

The South East GLH and the Synnovis Purine Research Laboratory will continue to provide DPYD testing service for the variants shown below.

  • c.1679T>G p.(Ile560Ser)
  • c.1905+1G>A
  • c.2846A>T p.(Asp949Val)
  • c.1236G>A/HapB3 p.(Glu412=) 

This is now a centrally commissioned NHSE service, so no invoices will be issued for eligible NHS patients.

PLEASE NOTE: During the first 6 month mobilisation period, the South East GLH has agreed to also provide a service for the North Thames and East Midlands East of England GLHs. Invoices will be raised for patients tested from outside South East GLH funded regions.

Synnovis DPYD test request form

Sample type and requirements

3.5ml EDTA blood

Packaging for samples sent via Royal Mail must comply with PI 650 for Category B substances.

Turnaround times

3 working days

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Lab address and opening hours

Purine Research Laboratory, Synnovis
4th Floor North Wing
St Thomas’ Hospital, Westminster Bridge Road
London SE1 7EH

Tel: 0207 188 1266

Mon-Fri 9:00-17:30

Email: Viapath.Purine@nhs.net

Key contacts

For scientific advice, please contact:

Dr Tony Marinaki – t.marinaki@nhs.net
Dr Monica Arenas Hernandez – m.arenas@nhs.net

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
 
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
 
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
 
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.