• Erika Cecchin, PharmD, PhD

CV

Erika Cecchin is a clinical pharmacologist and director of the Clinical and Experimental Pharmacology Unit at the Oncology Reference Center (CRO) in Aviano, IRCCS, Italy. She is a member of the Academic Council of the Doctoral School of Biomedical Sciences and Biotechnology at the University of Udine and of the Academic Council of the School of Specialization in Clinical Pharmacology and Toxicology at the University of Trieste. She teaches pharmacology at the Universities of Trieste and Padua. She holds positions on the executive committee and as a scientific advisor for working groups of various international associations in the field of pharmacogenomics and therapeutic drug monitoring, such as ESPT (European Society of Pharmacogenomics and Personalized Medicine); IATDMCT (International Association of TDM and Clinical Toxicology); IUPHAR (International Union of Pharmacology) and national organizations such as the Italian Society of Pharmacology (SIF). Her research aims to study the use of pharmacogenetics and therapeutic drug monitoring to improve the safety and appropriateness of cancer treatments. A specific focus of her research is to define the contribution of rare germline variants in drug-related genes, currently not adopted in clinical practice, in predicting chemotherapy-related toxicity in cancer patients.

ABSTRACT

Title:  Clinical benefit and utility of DPYD and UGT1A1 testing in gastrointestinal cancer: beyond single-gene targeted genotyping.

 

More than 21% of admissions to an oncology service are related to the management of adverse drug reactions. Germline genetic polymorphisms can identify patients at risk of toxicity. We recently demonstrated for the first time, that dose reductions of fluoropyrimidines (FP) and irinotecan (IRI) induced by DPYD and UGT1A1 genotyping in gastrointestinal cancer patients allowed patients to complete their course of treatment, with improved intensity of care. The development of the DPYD test in Europe is a successful example of clinical implementation of a pharmacogenetic test. Regulatory agencies now recommend pre-treatment genotyping for DPYD in Europe, and this was a key step in this process. Most oncology patients enrolled in Italy under PREPARE for FP-based prescribing received at least a second prescription managed by an oncologist with PGx guidelines available (at 18 months). This would encourage moving from a single drug-gene interaction analysis to a panel approach to increase cost-effectiveness and improve patient management. Moreover, the complexity of the genetics of DPYDs encourages the study of rare variants and the application of NGS techniques. Germline genetic variant burden determined by NGS could be a new pharmacogenetic marker to be further studied in the future.