Implementation of dihydropyrimidine dehydrogenase deficiency testing in Europe

Area of Science:

• Pharmacogenomics
• Clinical Chemistry
• Oncology

Background:

• Dihydropyrimidine dehydrogenase (DPD) deficiency is a primary cause of fluoropyrimidine toxicity.
• The European Medicines Agency (EMA) recommended DPD deficiency testing in 2020.
• This study evaluated DPD testing implementation in Europe pre- and post-EMA recommendations.

Purpose of the Study:

• To assess the implementation status of dihydropyrimidine dehydrogenase (DPD) deficiency testing in Europe.
• To evaluate the impact of European Medicines Agency (EMA) recommendations on DPD testing practices.
• To identify drivers and hurdles in the adoption of DPD testing.

Main Methods:

• A survey was conducted among 251 DPD testing experts across 34 European countries.
• An electronic questionnaire with closed and open questions was distributed.
• Descriptive analysis was performed on the collected data.

Main Results:

• Following EMA recommendations, genotype and phenotype testing increased by 87% and 75%, respectively.
• Reimbursement for DPD testing improved, with only 18% of countries lacking coverage.
• Key drivers shifted to guideline publication, while reimbursement and oncologist awareness improved.

Conclusions:

• EMA recommendations have successfully promoted DPD deficiency testing implementation in Europe.
• Test reimbursement and clear clinical guidelines are crucial for successful implementation.
• Enhancing oncologists' awareness of DPD testing's clinical relevance is necessary.