East Genomics

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DPYD testing for 5-fluorouracil (chemotherapy) toxicity

The DPYD gene encodes an enzyme known as dihydropyrimidine dehydrogenase (DPD). This enzyme is critical to the metabolism of fluoropyrimidine drugs such as fluorouracil/5-FU (Adrucil®), tegafur and capecitabine (Xeloda®) used in chemotherapy treatment.

Last year, East GLH started to carry out pre-emptive pharmacogenomic testing of specific DPYD variants which alerts clinicians to patients with a genetic susceptibility to severe fluoropyrimidine toxicity.

Treatment with fluoropyrimidines is generally well tolerated. However, 3-6% of patients suffer serious adverse drug reactions as a result of genetic variation in their DPYD gene which means they are unable to properly metabolise and breakdown these drugs. Genetic testing for the common DPYD genetic variants is recommended in some cancer patients and positive results can enable dose adjustments or selection of an alternative treatment regimen.

Testing for common DPYD polymorphisms is available via the Genomic Medicine Service Cancer Test Directory. This is following the publication of the Clinical Commissioning Urgent Policy Statement Pharmacogenomic testing for DPYD polymorphisms with fluoropyrimidine therapies. Testing is centrally commissioned and available from the East Genomic Laboratory Hub. Three new indications were added in April 2022.

Further information on DPD deficiency can be found on the Cancer Research UK website. (opens in a new tab)

Order a test

The Cambridge Genomic Laboratory at Cambridge University Hospitals provides DPYD testing for the East GLH region. To ensure a rapid service, please submit samples directly to the laboratory by first class post or courier.

The test order form and further detail can be found here.