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Advancing Cancer Care: Helix's New DPYD Testing for Safer Chemotherapy

Helix is proud to announce the upcoming launch of our new single gene DPYD pharmacogenomic (PGx) test. This launch comes at a critical time, following the guideline update from the National Comprehensive Cancer Network® (NCCN®) in April 2025 regarding the importance of testing for DPYD genetic variants.

In addition to our new single gene test for DPYD, Helix offers DPYD testing as part of our oncology pharmacogenomic panel which provides a comprehensive view of genetic factors that may influence response to multiple chemotherapy and supportive care medications, as well as our broad, comprehensive pharmacogenetic panel.

Why DPYD Testing Matters

Fluoropyrimidines, including 5-fluorouracil (5-FU) and capecitabine, are cornerstone treatments for multiple cancer types, particularly colorectal, breast, pancreatic, esophageal and head and neck cancers. However, for patients with certain DPYD gene variants, these treatments can cause severe, potentially life-threatening toxicity¹.

The DPYD gene encodes an enzyme called dihydropyrimidine dehydrogenase (DPD), which is responsible for metabolizing approximately 80% of administered fluoropyrimidines. Patients with reduced DPD activity cannot properly break down these medications, leading to dangerous drug accumulation in the body.

The Clinical Impact²

  • 5-7% of patients carry DPYD variants that can reduce enzyme function
  • These patients face up to a 4-fold increased risk of severe toxicity
  • Complications can include stomatitis, severe diarrhea, mucositis, neutropenia, and even death
  • Dose adjustments based on genetic status can help reduce the risk of adverse outcomes while potentially maintaining treatment efficacy

Transforming Care Through Precision Medicine

The Helix Pharmacogenomics Fluoropyrimidines DPYD Test as a single gene, standalone version will be available starting in June. This launch continues Helix’s tradition of providing clinically impactful PGx solutions that respond directly to important medical guidance. Helix’s new DPYD test aims to support the growing field of personalized cancer treatment by providing important genetic information that may help guide treatment decisions.

By identifying patients with DYPD variants before treatment begins, this testing may help oncologists:

  • Consider appropriate starting doses
  • Potentially reduce risk of hospitalizations from adverse drug reactions
  • Support patient quality of life during treatment
  • Potentially improve treatment adherence and outcomes

As always, testing decisions should be made by providers overseeing the care of their patients and should be made on an individualized basis as part of the overall treatment planning process.

Looking Forward

New recommendations signal a significant shift toward incorporating pharmacogenomics into standard cancer care protocols. Helix is at the forefront of this transition, providing clinicians with actionable genetic insights designed to improve patient safety and treatment outcomes.

Sources:
1. https://doi.org/10.3390/cancers14133207
2. https://doi.org/10.1002/cpt.3131


Disclaimer: While DYPD testing can identify known genetic variants associated with fluoropyrimidine toxicity, it cannot predict all possible adverse reactions. Multiple factors beyond genetics may influence how patients respond to treatment.

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