The key lies in the DPYD gene, which produces an enzyme called DPD that helps the body break down and clear fluoropyrimidines. Some people carry variants of this gene that reduce or eliminate DPD activity. Without proper metabolism, these drugs accumulate in the body and become toxic, leading to life-threatening side effects that stem from the patient's inability to process medications effectively, especially those metabolized by the DPYD gene. The results can be devastating; severe diarrhea, bone marrow suppression, neurotoxicity, or even death. What makes this especially tragic is that many of these outcomes are preventable, particularly for those with known variants.
Helix, a leader in precision health, has stepped in with a new pharmacogenomic test specifically designed to identify patients with DPYD variants before treatment begins. Their approach combines clinical rigor with practical application. Using their Exome+ sequencing pla...
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