Genomics Partnership Wales © 2020
Wales has become the first in the UK to routinely provide all cancer patients being treated with certain types of chemotherapy DPYD screening to identify their risk of severe side effects and help prevent this occurring.
An estimated 10% of patients prescribed fluoropyrimidine drugs, which are widely used for the treatment of cancer, can develop severe, sometimes life-threatening side effects.
These toxicities can be triggered by genetic variations in DPYD, the gene that encodes for dihydropyrimidine dehydrogenase (DPD) enzyme which helps to metabolise (break down) the chemotherapy drugs.
Low levels of the DPD enzyme –predicted by the genetic test– can result in a build-up of these chemotherapy drugs, thereby making the side effects more severe and occasionally fatal.
The DPYD test will be offered prior to the start of chemotherapy with results available in as little as 3 working days. With such quick turnaround times, treatments can be adjusted accordingly leading to significantly improved patient outcomes.
Chief Executive Officer at Bowel Cancer UK, Genevieve Edwards said: “DPD deficiency can cause life-threatening – and sometimes even fatal – reactions to certain types of chemotherapy.
“Together with patients and loved ones affected by DPD, Bowel Cancer UK has been shining a light on the impact DPD deficiency has for many.
“We’re extremely pleased that potentially lifesaving testing will be available to all cancer patients receiving this type of chemotherapy across the country prior to treatment.”
Len Richards, Senior Responsible Officer for Genomics Partnership Wales said, “Personalised medicine offers many prospects and it is exciting to see Wales once again leading the way in pharmacogenomics by routinely offering DPYD testing for chemotherapy patients across Wales.
“By screening for DPYD variants at the right time and in an actionable timeframe we are able to provide better treatment options and save lives.”
Richard Adams, Professor and Consultant in Bowel Cancer at Velindre and Cardiff University said: “As doctors and health care professionals we are tasked with improving the wellbeing of our patients and avoiding doing harm.
“Over the last 20 years I have seen and cared for many patients who have benefitted from this treatment but also looked after those who have suffered the more severe side effects, with more drastic consequences.
“This test now allows us to assess the risk of these side effects and in selected patients to change the treatment to reduce the likelihood of this occurring. DPYD screening allows us to improve the quality of care of cancer patients across Wales and save lives“
Dyfrig Hughes, Professor of Pharmacoeconomics at Bangor University said, “There is great potential for pharmacogenetic testing to change the way medicines are prescribed in order to improve health outcomes.
“It is very apt that Wales should lead the way in providing a national DPYD testing service, as it was a Welshman, David Price Evans, who played a central role in the development of the field of pharmacogenetics.”
Given the recent success of the pilot phase, which commenced earlier this year in collaboration with Velindre, all health boards across Wales will routinely offer the DPYD test.
To date, over 400 samples have been collected with uptake set to increase.