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Three patients with cancer have received personalised chemotherapy doses following screening for a DPYD gene variant found in around 2% of people of African ancestry.
Variants of the DPYD gene have been associated with a deficiency of the dihydropyrimidine dehydrogenase (DPD) enzyme. The DPD enzyme breaks down fluoropyrimidines, a class of drug widely used to treat various types of cancer.
Manchester University NHS Foundation Trust’s North West Genomic Laboratory Hub (GLH) began screening for the c.557A>G variant in September 2025.
Prior to that, DYPD screening in the UK had been focused on four other variants that are typically found in people of white European ancestry.
In a statement published on 14 April 2026, the NHS Race and Health Observatory said: “Until now, other variants, more commonly found in diverse ethnic groups, and which effect the breakdown of fluoropyrimidine chemotherapy, were not tested across the NHS, limiting outcomes and exacerbating ethnic health inequalities across cancer care.”
Since the North West GLH began screening began for the additional variant, three patients — aged 47, 59 and 76 years — now receive “altered starting doses of chemotherapy, reducing their risks of experiencing potentially fatal adverse drug reactions”, it said.
The NHS Race and Health Observatory added that testing for the fifth variant is now also underway at six other genomic hubs.
In June 2024, the NHS Race and Health Observatory partnership with the University of Liverpool published a systematic review in the British Journal of Cancer, in which it called for DPYD gene variants screening to be broadened to include variants present in some non-European ancestry groups.
Habib Naqvi, chief executive of the NHS Race and Health Observatory, said: “Genomics and precision medicine are currently at the cutting edge of medical technology, promising a world in which treatments can be more targeted and effective. However, we also know that ethnic minority groups are under-represented in medical research and in genomic biobanks.
“Research needs to be conducted with diverse populations — only then can medical advances benefit everyone.”
Munir Pirmohamed, David Weatherall chair of medicine at the University of Liverpool, commented: “It is great news for patients that the NHS was able to introduce the c.557A>G variant into the testing panel for DPYD based on our research findings. This is in keeping with the ten-year NHS plan to prevent serious adverse drug reactions through genomic testing.
“However, it is important to note that this is the beginning of the journey, rather than the end of the journey, as there many other variants in this gene, which need to be evaluated, and implemented into the testing panel. This will benefit more patients irrespective of their ethnic background.”
Read more:
- ‘Closing the ethnicity gap in pharmacogenomics‘;
- ‘Ngozi Kalu: ‘When research lacks representation, findings become biased and inequalities emerge’‘.
