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Updated: Jun 26, 2026
Pyrosequencing: A Simple Method for Accurate Genotyping
Published on: January 8, 2008
DPYD genotyping and dihydropyrimidine dehydrogenase (DPD) phenotyping in clinical oncology. A clinically focused
Niels Herluf Paulsen1,2, Fie Vojdeman3, Stig Ejdrup Andersen4
1Department of Clinical Pharmacology, Odense University Hospital, Odense, Denmark.
Background:
In clinical oncology, systemic 5-fluorouracil (5-FU) and its oral pro-drugs are used to treat a broad group of solid tumours. Patients with dihydropyrimidine dehydrogenase (DPD) enzyme deficiency are at elevated risk of toxicity if treated with standard doses of 5-FU. DPYD genotyping and measurements of plasma uracil concentration (DPD phenotyping) can be applied as tests for DPD deficiency. In April 2020, the European Medicines Agency recommended pre-treatment DPD testing to reduce the risk of 5-FU-related toxicity.
Objectives:
The objective of this study is to present the current evidence for DPD testing in routine oncological practice.
Methods:
Two systematic literature searches were performed following the PRISMA guidelines. We identified studies examining the possible benefit of DPYD genotyping or DPD phenotyping on the toxicity risk.
Findings:
Nine and 12 studies met the criteria for using DPYD genotyping and DPD phenotyping, respectively.
Conclusions:
The evidence supporting either DPYD genotyping or DPD phenotyping as pre-treatment tests to reduce 5-FU toxicity is poor. Further evidence is still needed to fully understand and guide clinicians to dose by DPD activity.
Insights
Dihydropyrimidine dehydrogenase (DPD) testing is recommended before 5-fluorouracil (5-FU) chemotherapy. However, current evidence for DPYD genotyping or DPD phenotyping to reduce 5-FU toxicity is limited.
Area of Science:
- Oncology
- Pharmacogenomics
- Clinical Chemistry
Background:
- Systemic 5-fluorouracil (5-FU) and oral prodrugs are widely used for solid tumors.
- DPD enzyme deficiency increases risk of severe toxicity with standard 5-FU doses.
- DPD deficiency can be identified by DPYD genotyping or plasma uracil concentration (DPD phenotyping).
Purpose of the Study:
- To review current evidence on DPD testing in routine oncological practice.
- To assess the utility of DPYD genotyping and DPD phenotyping for reducing 5-FU toxicity.
Main Methods:
- Systematic literature searches were conducted following PRISMA guidelines.
- Studies evaluating DPYD genotyping or DPD phenotyping for toxicity risk were identified.
Main Results:
- Nine studies met criteria for DPYD genotyping.
- Twelve studies met criteria for DPD phenotyping.
Conclusions:
- Current evidence supporting DPYD genotyping or DPD phenotyping to reduce 5-FU toxicity is weak.
- More research is needed to guide clinical dosing based on DPD activity.
