Pharmacogenomic Testing
Resources to support clinicians ordering pharmocogenomic testing
A variety of pharmacogenomic tests are now available to NHS patients, provided they meet eligibility criteria outlined in the National Genomic Test Directory.
There are a range of resources to support clinicians ordering these tests.
Please see the links below for further information.
Arrange Testing
Ready to order a test? Visit our 'Order or Find a Test' page to download the test order form
GeNotes: Pharmacogenomic Testing
Browse resources developed by NHS England's National Genomic Education Programme to support pharmacogenomic testing
National Genomic Test Directory
Review the range of genomic tests available to NHS patients
Test-Specific Resources
We have developed some test-specific resources to support you when ordering some pharmacogenomic tests for your patients. Select the test you are interested in and find out more.
Other pharmacogenomic tests available
Fluoropyrimidines such as 5-fluorouracil and capecitabine are metabolised by DPD, which is encoded by the DPYD gene. 3–9% have a genetic variant in the DPYD gene linked to DPD deficiency, raising the risk of toxicity.
The MHRA advises performing DPYD genotyping prior to fluoropyrimidine treatment to identify individuals with decreased DPD activity, enabling dose adjustments or alternative options.
Safety update information from MHRA is available here.
Tests focus on common validated DPYD variants affecting DPD function. However, a normal genotype doesn’t rule out toxicity, as rare variants and other factors may also cause adverse reactions.
Further information on DPD deficiency is available from Cancer Research UK.
Relevant test codes are: M1.7, M3.7, M6.5, M14.5, M15.7, M16.4, M17.4, M219.3, M220.3, M222.4, M226.3, M227.3, M236.2, M237.2, M238.2
CYP2C19 testing is required to determine the appropriate dose of mavacamten for symptomatic obstructive hypertrophic cardiomyopathy.
Testing is available to patients with:
- Symptomatic obstructive hypertrophic cardiomyopathy who have a New York Heart Association class of 2 to 3 AND
- are eligible for treatment with mavacamten in line with NICE TA 913
Further information on mavacamten use can be found on NICE.
Test code R454
TPMT/NUDT15 targeted mutation testing is available for patients with a confirmed diagnosis of acute lymphoblastic leukaemia and proposed treatment involving purine analogue drugs.
Variants in TPMT or NUDT15 can reduce thiopurine metabolism, increasing the risk of serious haematological toxicity. A “normal” result does not rule out toxicity, as rare variants and other clinical factors may still contribute.
Relevant Test codes M91.80 and M91.81