TranSYS Training School 24th November 08.30

Prof. dr. Vita Dolžan, MD, PhD, spec lab med gen

Head, Pharmacogenetics Laboratory

University of Ljubljana, Faculty of Medicine, Institute of Biochemistry and Molecular Genetics

Tuesday 24th November 2020  08.30 CET

Pharmacogenomics in clinical practice


The implementation of pharmacogenomic testing into routine care remains limited despite huge advances in the field. The Horizon’s 2020 Ubiquitous Pharmacogenomics (U-PGx) project started in 2016 to provide clinical decision support tools (CDS) and evaluate the outcomes of systematic implementation of pre-emptive PGx testing across 7 EU countries. A bloc-randomized multi-centre clinical trial PREPARE was set up to establish if implementation of PGx-guided drug prescribing for a panel of drug-pharmacogene pairs with evidence based treatment guidelines ( reduces drug-genotype associated adverse drug reactions (ADRs), improves treatment cost-effectiveness and the quality of life in comparison to standard of care treatment. The trial included 6951 patients in EU. In Slovenia, 95.4% of 716 tested patients carried at least 1 polymorphic pharmacogene, while 78% had 2 or even more. In the intervention arm, 26.8% of 317patients had an actionable genotype for the first index drug. End-of-study genotyping analysis revealed that in control arm 29.3% of 399 patients had actionable genotype for the index drug. In conclusion, pre-emptive PGx testing is a promising tool that could improve patients’ care and could be successfully implemented into diverse health-care systems. Acknowledgement: Horizon 2020 UPGx Project – grant No 668353

Key references:

van der Wouden CH, Böhringer S, Cecchin E, Cheung KC, Dávila-Fajardo CL, Deneer VHM, Dolžan V, et al.; Ubiquitous Pharmacogenomics Consortium. Generating evidence for precision medicine: considerations made by the Ubiquitous Pharmacogenomics Consortium when designing and operationalizing the PREPARE study. Pharmacogenet Genomics. 2020 Aug;30(6):131-144. doi: 10.1097/FPC.0000000000000405; PMID: 32317559


Vita Dolžan received MD degree in 1989 at University of Ljubljana, Faculty of Medicine (UL MF), Slovenia, where she later received MSc (1994) and PhD (1997) degree in Biochemistry and Molecular Biology.  She was a Postdoctoral fellow at Division of Molecular Toxicology, IMM, Karolinska Institute, Stockholm with prof. M. Ingelman-Sundberg in 2000 – 2001. She is Full Professor of Biochemistry and Molecular Biology at UL MF and the founder and Head of the Pharmacogenetics Laboratory at the Institute of Biochemistry, UL MF.  She has vast research experience in the field of pharmacogenetics and implementation of novel molecular biology based methods into clinical use. She is interested in development of clinical-pharmacogenetic models that would facilitate the translation of personalized medicine into clinical practice. She also works on the promotion of pharmacogenomics knowledge and awareness. For contribution to the field, she received Lapanje award from the Slovenian Biochemical Society in 2013.