Systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in Greece

Abstract Pharmacogenomics (PGx) aims to delineate a patient’s genetic profile with differences in drug efficacy and/or toxicity, particularly focusing on genes encoding for drug-metabolizing enzymes and transporters. Clinical implementation of PGx is a complex undertaking involving a multidisciplina...

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Main Authors: George P. Patrinos, Kariofyllis Karamperis, Margarita-Ioanna Koufaki, Maria Skokou, Zoe Kordou, Eirini Sparaki, Margarita Skaraki, Christina Mitropoulou
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Human Genomics
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Online Access:https://doi.org/10.1186/s40246-025-00720-1
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author George P. Patrinos
Kariofyllis Karamperis
Margarita-Ioanna Koufaki
Maria Skokou
Zoe Kordou
Eirini Sparaki
Margarita Skaraki
Christina Mitropoulou
author_facet George P. Patrinos
Kariofyllis Karamperis
Margarita-Ioanna Koufaki
Maria Skokou
Zoe Kordou
Eirini Sparaki
Margarita Skaraki
Christina Mitropoulou
author_sort George P. Patrinos
collection DOAJ
description Abstract Pharmacogenomics (PGx) aims to delineate a patient’s genetic profile with differences in drug efficacy and/or toxicity, particularly focusing on genes encoding for drug-metabolizing enzymes and transporters. Clinical implementation of PGx is a complex undertaking involving a multidisciplinary approach that includes, among others, a thorough understanding of a country’s preparedness to adopt this modern discipline and a detailed knowledge of PGx biomarkers allelic spectrum at a population level. In several European populations, particularly in countries with lower income, clinical implementation of PGx is still in its infancy. We have previously performed a pilot study to determine the prevalence of PGx biomarkers in 18 European populations, as the first step towards population PGx at the European level. Here, we provide a comprehensive analysis of the current state of PGx in Greece, including a detailed allelic frequency spectrum of clinically actionable PGx biomarkers, the level of PGx education in academia, the provision of PGx testing services from public and private laboratories, and the aspects of the regulatory PGx environment, especially with respect to the discrepancies between the Greek National Organization of Medicines and the European Medicine Agency and health technology assessment. This study would not only provide the foundations for expediting the adoption of PGx in clinical reality in Greece but can also serve as a paradigm for replicating future studies in other European countries, to expand on previously available pilot studies.
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spelling doaj-art-ae7f6792e3804e52a8a751df1a14e3bc2025-02-09T12:46:35ZengBMCHuman Genomics1479-73642025-02-0119111110.1186/s40246-025-00720-1Systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in GreeceGeorge P. Patrinos0Kariofyllis Karamperis1Margarita-Ioanna Koufaki2Maria Skokou3Zoe Kordou4Eirini Sparaki5Margarita Skaraki6Christina Mitropoulou7Department of Pharmacy, Laboratory of Pharmacogenomics and Individualized Therapy, University of Patras School of Health SciencesDepartment of Pharmacy, Laboratory of Pharmacogenomics and Individualized Therapy, University of Patras School of Health SciencesDepartment of Pharmacy, Laboratory of Pharmacogenomics and Individualized Therapy, University of Patras School of Health SciencesDepartment of Pharmacy, Laboratory of Pharmacogenomics and Individualized Therapy, University of Patras School of Health SciencesDepartment of Pharmacy, Laboratory of Pharmacogenomics and Individualized Therapy, University of Patras School of Health SciencesDepartment of Pharmacy, Laboratory of Pharmacogenomics and Individualized Therapy, University of Patras School of Health SciencesDepartment of Pharmacy, Laboratory of Pharmacogenomics and Individualized Therapy, University of Patras School of Health SciencesThe Golden Helix FoundationAbstract Pharmacogenomics (PGx) aims to delineate a patient’s genetic profile with differences in drug efficacy and/or toxicity, particularly focusing on genes encoding for drug-metabolizing enzymes and transporters. Clinical implementation of PGx is a complex undertaking involving a multidisciplinary approach that includes, among others, a thorough understanding of a country’s preparedness to adopt this modern discipline and a detailed knowledge of PGx biomarkers allelic spectrum at a population level. In several European populations, particularly in countries with lower income, clinical implementation of PGx is still in its infancy. We have previously performed a pilot study to determine the prevalence of PGx biomarkers in 18 European populations, as the first step towards population PGx at the European level. Here, we provide a comprehensive analysis of the current state of PGx in Greece, including a detailed allelic frequency spectrum of clinically actionable PGx biomarkers, the level of PGx education in academia, the provision of PGx testing services from public and private laboratories, and the aspects of the regulatory PGx environment, especially with respect to the discrepancies between the Greek National Organization of Medicines and the European Medicine Agency and health technology assessment. This study would not only provide the foundations for expediting the adoption of PGx in clinical reality in Greece but can also serve as a paradigm for replicating future studies in other European countries, to expand on previously available pilot studies.https://doi.org/10.1186/s40246-025-00720-1PharmacogenomicsPersonalized medicineClinical implementationService providersRegulatory guidancePrecision therapeutics
spellingShingle George P. Patrinos
Kariofyllis Karamperis
Margarita-Ioanna Koufaki
Maria Skokou
Zoe Kordou
Eirini Sparaki
Margarita Skaraki
Christina Mitropoulou
Systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in Greece
Human Genomics
Pharmacogenomics
Personalized medicine
Clinical implementation
Service providers
Regulatory guidance
Precision therapeutics
title Systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in Greece
title_full Systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in Greece
title_fullStr Systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in Greece
title_full_unstemmed Systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in Greece
title_short Systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in Greece
title_sort systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in greece
topic Pharmacogenomics
Personalized medicine
Clinical implementation
Service providers
Regulatory guidance
Precision therapeutics
url https://doi.org/10.1186/s40246-025-00720-1
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