Germline testing on blood samples is available for Welsh cancer patients being treated with common fluoropyrimidine based chemotherapies, 5-fluoruracil and/or capecitabine. A PCR test is performed to identify variants in the dihydropyrimidine dehydrogenase (DPYD) gene that increase a patient’s risk of severe or fatal toxicity to fluoropyrimidine based chemotherapies.
For details about this test please see the DPYD information sheet.
To order the test use this referral form.
Professor Dyfrig Hughes graduated in pharmacy at Cardiff University before undertaking a PhD in cardiovascular pharmacology at the University of Liverpool. He is currently Professor of Pharmacoeconomics and leads the Pharmaceutical Economics, Policy and Pricing Research (PEPPER) group at the Centre for Health Economics and Medicines Evaluation which he co-directs at Bangor University. He is also an honorary professor at the Department of Molecular and Clinical Pharmacology, University of Liverpool.
Dyfrig's research focuses primarily on the safe, effective and efficient use of medicines. His research has resulted in over 170 publications, including in the prestigious medical journals New England Journal of Medicine, Lancet and the BMJ. He has led and contributed to research totalling £56.4m in value. Dyfrig’s involvement in pharmacogenetics includes: chairing the pharmacogenomics test evaluation working group for the Genomics Programme in NHS England and NHS Improvement; being pharmacogenetics champion on behalf of the Royal Pharmaceutical Society; co-chair of the Sub-group on Eligibility Criteria and Testing Volume for the NHS England / Genomics England Joint Working Group on Pharmacogenetics; and member of Genomics Partnership Wales (GPW) Research & Innovation Implementation Group and Programme Board.
Dyfrig is a Health and Care Research Wales Senior Research Leader (since 2016), and is an elected fellow of: The Learned Society of Wales (2013), The British Pharmacological Society (2013), and the Faculty of the Royal Pharmaceutical Society (2014). He is an editorial board member of the journals PharmacoEconomics, Clinical Pharmacology & Therapeutics, British Journal of Clinical Pharmacology and the Orphanet Journal of Rare Diseases.