Patients in Wales to receive routine life-saving testing ahead of chemotherapy treatment

Wales has become the first country in the UK to routinely screen all cancer patients being treated with certain types of chemotherapy, 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.

All health boards across Wales will routinely offer the DPYD test, following a successful pilot phase.

The test will be offered prior to the start of chemotherapy with results available in as little as three working days. With such quick turnaround times, treatments can be adjusted accordingly leading to significantly improved patient outcomes.

Genevieve Edwards, Chief Executive at Bowel Cancer UK, 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, we have 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, Chief 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.”

We welcome the introduction of routine testing in Wales – the first country in the UK to do this, and now also want to see it made available across England, Scotland and Northern Ireland.

• Find out about the future of healthcare in our blog explaining the new National Genomic Healthcare strategy

• Read about Sian whose husband had DPD deficiency

• Find out more about our work in Wales