Genetic Pre-Chemotherapy Test Expanded for People of African Ancestry

14 Apr 20264 min read0 viewsJournal Feed

GIST

A genetic test routinely carried out to help avoid severe and potentially fatal side effects from chemotherapy has now incorporated a genetic variant found more commonly in people of African ancestry.The expanded genetic test, which is now offered through all seven genetic hubs in England, will help reduce health inequalities across cancer care, say experts.In October 2020 the Medicines and Healthcare Products Regulatory Agency recommended that clinicians carry out DPYD genetic testing before prescribing fluoropyrimidine drugs as part of chemotherapy.1 The NHS implemented this recommendation the following month.The DPYD gene produces an enzyme called dihydropyrimidine dehydrogenase (DPD). This helps the body break down fluoropyrimidine based chemotherapy, which includes 5-fluorouracil, capecitabine, and tegafur.Around 3-5% of the European population have a low level of the DPD enzyme. Patients who are deficient in this enzyme cannot fully break the drug down, which may result in side effects affecting the bone marrow, bowel, and...

Clinical Editorial

Context and design

A routine pharmacogenetic test assessing risk of severe chemotherapy toxicity has been broadened to include a variant more common in individuals of African ancestry.
The update is positioned as part of routine practice across seven genetic hubs in England, aligning with prior regulatory and NHS implementation steps.

Population and exposure

The test targets patients receiving fluoropyrimidine-based chemotherapy (including 5-fluorouracil, capecitabine, tegafur).
The DPYD gene encodes the dihydropyrimidine dehydrogenase enzyme, which metabolizes these drugs.
About 3-5% of the European population are described as having low DPD enzyme activity, predisposing to increased toxicity when standard doses are given.

Key findings and interpretation

Incorporating a variant more prevalent in African ancestry aims to reduce health disparities in cancer care by refining toxicity risk assessment prior to chemotherapy.
The modification is framed as an effort to improve equity in pre-treatment pharmacogenetic screening.