From evidence to implementation: key priorities for pharmacogenomics-guided treatment and prevention from a European expert workshop

European Journal of Human Genetics

Abstract

Pharmacogenomics holds promise for enhancing drug safety and efficacy, paving the way for more precise, patient-centered therapeutic approaches and supporting personalized medicine and prevention. However, its routine integration into healthcare remains limited. A European multidisciplinary expert workshop was held in Amsterdam in January 2025, to share experiences regarding the priorities to further implement pharmacogenomic-guided treatment and prevention into clinical practice. A qualitative content analysis was conducted to identify key themes to support improved implementation of pharmacogenomics. The analysis drew on inputs from a multi-stakeholder workshop involving 55 participants from 10 European countries, representing policy, healthcare, academia, patient organizations and industry. The paper is centered around three central pillars to implement pharmacogenomics: evidence, acceptance, and integration into healthcare systems. Based on the expert presentations and discussions, five key priorities were identified for advancing pharmacogenomics: 1) the need for robust clinical and health economic evaluations to support funding and reimbursement decisions, 2) education and training for healthcare professionals, and raising awareness of pharmacogenomics among policymakers and the public, 3) investment in information technology and data infrastructure for interoperable storage and clinical decision making, 4) harmonizing regulatory and reimbursement policies, and 5) ensuring equitable access of pharmacogenomics. Findings underscore the need of a closer alignment through e.g. a dedicated network to move pharmacogenomics from an emerging innovation to a standard component of personalized medicine across Europe. Multidisciplinary collaboration throughout the implementation pathway will be crucial to advance pharmacogenomic-guided treatment and prevention as key part of personalized medicine.

Authors 13

1. Loes Lindiwe Kreeftenberg

   Amsterdam Public Health · Amsterdam UMC Location Vrije Universiteit Amsterdam

   Affiliation as printed

   Amsterdam Public Health Research Institute, Amsterdam, the Netherlands

   Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit, Amsterdam, the Netherlands

2. Lidewij Henneman

   Amsterdam Public Health · Amsterdam UMC Location Vrije Universiteit Amsterdam

   Affiliation as printed

   Amsterdam Public Health Research Institute, Amsterdam, the Netherlands

   Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit, Amsterdam, the Netherlands

3. Tessel Rigter

   Amsterdam Public Health · Amsterdam UMC Location Vrije Universiteit Amsterdam

   Affiliation as printed

   Amsterdam Public Health Research Institute, Amsterdam, the Netherlands

   Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit, Amsterdam, the Netherlands

4. Angelica Valz Gris

   Università Cattolica del Sacro Cuore

   Affiliation as printed

   Section of Hygiene, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy

5. Adrián LLerena
   Affiliation as printed

   INUBE Extremadura Biosanitary Research Institute, Unit of Pharmacogenetics and Personalized Medicine, Badajoz University Hospital, Badajoz, Spain

6. John Henry McDermott

   University of Manchester · St Mary's Hospital · Manchester University NHS Foundation Trust

   Affiliation as printed

   Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom

   The Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, United Kingdom

7. Maureen Rutten‐van Mölken

   Erasmus University Rotterdam

   Affiliation as printed

   Erasmus School of Health Policy and Management, Erasmus University Rotterdam, Rotterdam, the Netherlands

8. Astrid Moura Vicente

   National Institute of Health Dr. Ricardo Jorge

   Affiliation as printed

   Department of Health Promotion and NCD Prevention, Instituto Nacional De Saúde Doutor Ricardo Jorge, Lisbon, Portugal

9. Ron H. N. van Schaik

   Erasmus MC

   Affiliation as printed

   Department of Clinical Chemistry, Erasmus MC - University Medical Center, Rotterdam, the Netherlands

10. Videha Sharma

    University of Manchester

    Affiliation as printed

    Centre for Health Informatics, Division of Informatics, Imaging and Data Science, University of Manchester Faculty of Biology, Medicine and Health, Manchester, United Kingdom

11. Jesse Joachim Swen Aachen Department of Clinical Pharmacy and Toxicology

    Leiden University Medical Center

    Affiliation as printed

    Department of Clinical Pharmacy & Toxicology, Leiden University Medical Center, Leiden, the Netherlands

12. Martina Cornelia Cornel

    Amsterdam Public Health · Amsterdam UMC Location Vrije Universiteit Amsterdam

    Affiliation as printed

    Amsterdam Public Health Research Institute, Amsterdam, the Netherlands

    Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit, Amsterdam, the Netherlands

13. Carla G. van El corresponding

    Amsterdam Public Health · Amsterdam UMC Location Vrije Universiteit Amsterdam

    Affiliation as printed

    Amsterdam Public Health Research Institute, Amsterdam, the Netherlands. cg.vanel@amsterdamumc.nl

    Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit, Amsterdam, the Netherlands. cg.vanel@amsterdamumc.nl