Rare Gene Mutations Linked to Increased Risk of Fatal Chemotherapy Toxicity

Though DPYD and other gene testing has been recommended by the European Medicines Agency since spring of 2020, gene testing is not widely done in the US before patients are administered chemotherapy with 5-fluorouracil or capecitabine. Brooks’ study suggests that adding pre-treatment screening may help prevent avoidable chemotherapy-related deaths without interrupting standard of care, as most patients who carry abnormal gene variants can still be treated with reduced doses of these chemotherapies. NCCC has already implemented routine screening for DPYD gene variants in most gastrointestinal cancer patients.

“US organizations such as the Food & Drug Administration (FDA), the American Society of Clinical Oncology, or the National Comprehensive Cancer Network should consider recommending this testing. The FDA is currently considering a citizen’s petition advocating for more widespread genetic testing, of which I am a cosigner,” says Brooks.

Source: Eurekalert