Balance of care activity after EMA recommendation for gene testing in Galicia.

INTRODUCTION

Since April 2020, pretherapeutic screening for accessing the deficiency of the DPD enzyme by genotyping the dihydropyrimidine dehydrogenase gene () is required by the European Medicine Agency (EMA) prior to the administration of fluoropyrimidine-based chemotherapy. In May 2020, the Spanish Drug and Medical Devices Agency (AEMPS) published an informative note highlighting the importance of analysis prior fluoropyrimidines derivatives administration to prevent the development of severe adverse drug reactions (ADRs). The publication of these recommendations marked a turning point in the daily routine in many pharmacogenetics laboratories in Spain. This article aims to illustrate the current state of the testing in the reference genomic medicine center in Galicia, 4 years after the EMA's updated recommendations.

METHODS

The Pharmacogenetics Unit in the reference genomic medicine center conducted genotyping of the four variants recommended by regulatory agencies that oncologists can adjust fluoropyrimidine treatment based on genotype results.

RESULTS

Between 1 June 2020 to 1 May 2024, both included, a total of 2,798 requests were analyzed. genotyping results revealed a 3.15% prevalence of heterozygosity for at least one of the four variants, being rs56038477 the most prevalent variant (1.31%).

CONCLUSION

This study addresses the importance of the analysis implementation in clinical practice after the changes in EMA and AEMPs recommendations which has led to a significant increase in genotyping requests. This highlights the significance of preemptive genotyping for accurately adjusting fluoropyrimidines doses before initiating treatment.