Pharmacogenetic Implementation Studies-Lessons Learned From the PREPARE Study

Ubiquitous Pharmacogenomics Consortium; Henk-Jan Guchelaar; Cathelijne H van der Wouden; Lisanne E N Manson; Heshu Abdullah-Koolmees; Kathrin Blagec; Tanja Blagus; Stefan Böhringer; Erika Cecchin; Ka-Chun Cheung; Vera H M Deneer; Siv Jonsson; Candace Joefield-Roka; Katja S Just; Mats O Karlsson; Lidija Konta; Rudolf Koopmann; Marjolein Kriek; Thorsten Lehr; Christina Mitropoulou; Victoria Rollinson; Rossana Roncato; Matthias Samwald; Elke Schaeffeler; Maria Skokou; Matthias Schwab; Daniela Steinberger; Julia C Stingl; Roman Tremmel; Richard M Turner; Mandy H van Rhenen; Cristina L Dávila-Fajardo; Vita Dolžan; George P Patrinos; Munir Pirmohamed; Gere Sunder-Plassmann; Giuseppe Toffoli; Jesse J Swen

doi:10.1002/cpt.3749

Pharmacogenetic Implementation Studies-Lessons Learned From the PREPARE Study

Ubiquitous Pharmacogenomics Consortium
, Henk-Jan Guchelaar^*
, Cathelijne H van der Wouden
, Lisanne E N Manson
, Heshu Abdullah-Koolmees
, Kathrin Blagec
, Tanja Blagus
, Stefan Böhringer
, Erika Cecchin
, Ka-Chun Cheung
, Vera H M Deneer
, Siv Jonsson
, Candace Joefield-Roka
, Katja S Just
, Mats O Karlsson
, Lidija Konta
, Rudolf Koopmann
, Marjolein Kriek
, Thorsten Lehr
, Christina Mitropoulou

Victoria Rollinson, Rossana Roncato, Matthias Samwald, Elke Schaeffeler, Maria Skokou, Matthias Schwab, Daniela Steinberger, Julia C Stingl, Roman Tremmel, Richard M Turner, Mandy H van Rhenen, Cristina L Dávila-Fajardo, Vita Dolžan, George P Patrinos, Munir Pirmohamed, Gere Sunder-Plassmann, Giuseppe Toffoli, Jesse J Swen

^*Corresponding author for this work

Leiden University Medical Center
Medical University of Vienna
University of Ljubljana
Experimental and Clinical Pharmacology Unit
Medicines Information Centre
Uppsala University
University Hospital of the RWTH Aachen
Bio.logis Digital Health
Saarland University
The Golden Helix Foundation
The University of Liverpool
University of Tübingen
University of Patras School of Health Sciences
Hospital Universitario Virgen de las Nieves
United Arab Emirates University

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

The Ubiquitous Pharmacogenomics consortium (www.upgx.eu) has recently completed and published the Preemptive Pharmacogenomic Testing for Preventing Adverse Drug Reactions (PREPARE) study on the implementation of panel-based pharmacogenetic testing. PREPARE has provided interesting lessons for the design, execution, and interpretation of future clinical implementation studies. In this paper, we share our experience and lessons learned from the PREPARE study for future pharmacogenetic implementation studies. Issues addressed are the study population, intervention, endpoint, randomization, blinding, crossover, ethics, real-world changes during the study, and data analysis and reporting.

Original language	English
Pages (from-to)	803-812
Number of pages	10
Journal	Clinical Pharmacology and Therapeutics
Volume	118
Issue number	4
Early online date	24 Jun 2025
DOIs	https://doi.org/10.1002/cpt.3749
Publication status	Published - Oct 2025

Bibliographical note

Publisher Copyright:
© 2025 The Author(s). Clinical Pharmacology & Therapeutics published by Wiley Periodicals LLC on behalf of American Society for Clinical Pharmacology and Therapeutics.

Funding

MP currently receives partnership funding, paid to the University of Liverpool, for the following: MRC Clinical Pharmacology Training Scheme (co‐funded by MRC and Roche, UCB, Eli Lilly and Novartis), and the MRC Medicines Development Fellowship Scheme (co‐funded by MRC and GSK, AZ, Optum and Hammersmith Medicines Research). He has developed an HLA genotyping panel with MC Diagnostics but does not benefit financially from this. He is part of the IMI Consortium ARDAT ( www.ardat.org ). MK receives funding for methodological research, paid to Uppsala University, from Bayer, GSK, and Roche. He is a consultant to, owns stock in, and serves on the board of Pharmetheus. ES, MSc, and RTr were partly supported by the Robert Bosch Stiftung, and ES and MS by the German Research Foundation (DFG) under Germany's Excellence Strategy (EXC 2180–390900677). TL is currently supported by the European Union Horizon 2021 SafePolyMed (grant 101,057,639). JSw currently receives speaker fees from Lundbeck, paid to the LUMC, and is currently supported by the European Union Horizon 2021 SafePolyMed (grant 101,057,639). RTu is now an employee of GSK; his work on the PREPARE study preceded and is separate from this employment. CW is now an employee of Roche; her work on the PREPARE study preceded and is separate from this employment. SJ was an employee of Uppsala University at the time of the PREPARE study, but is now an employee of Pharmetheus. All other authors report no conflicts of interest. The PREPARE study was funded by the European Union, Horizon 2020 Research and Innovation Program under grant agreement no. 668353.

Funders	Funder number
Roche
LUMC
UCB
German Research Foundation
Robert Bosch Stiftung
Optum and Hammersmith Medicines Research
University of Liverpool
MRC
GSK
Horizon 2020 Framework Programme	668353
DFG	EXC 2180–390900677
European Union Horizon 2021 SafePolyMed	101,057,639

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Clin Pharma and Therapeutics - 2025 - Guchelaar - Pharmacogenetic Implementation Studies Lessons Learned From the PREPAREFinal published version, 459 KBLicence: CC BY-NC-ND

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Ubiquitous Pharmacogenomics Consortium, Guchelaar, H.-J., van der Wouden, C. H., Manson, L. E. N., Abdullah-Koolmees, H., Blagec, K., Blagus, T., Böhringer, S., Cecchin, E., Cheung, K.-C., Deneer, V. H. M., Jonsson, S., Joefield-Roka, C., Just, K. S., Karlsson, M. O., Konta, L., Koopmann, R., Kriek, M., Lehr, T., ... Swen, J. J. (2025). Pharmacogenetic Implementation Studies-Lessons Learned From the PREPARE Study. Clinical Pharmacology and Therapeutics, 118(4), 803-812. https://doi.org/10.1002/cpt.3749

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abstract = "The Ubiquitous Pharmacogenomics consortium (www.upgx.eu) has recently completed and published the Preemptive Pharmacogenomic Testing for Preventing Adverse Drug Reactions (PREPARE) study on the implementation of panel-based pharmacogenetic testing. PREPARE has provided interesting lessons for the design, execution, and interpretation of future clinical implementation studies. In this paper, we share our experience and lessons learned from the PREPARE study for future pharmacogenetic implementation studies. Issues addressed are the study population, intervention, endpoint, randomization, blinding, crossover, ethics, real-world changes during the study, and data analysis and reporting.",

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note = "Publisher Copyright: {\textcopyright} 2025 The Author(s). Clinical Pharmacology \& Therapeutics published by Wiley Periodicals LLC on behalf of American Society for Clinical Pharmacology and Therapeutics.",

year = "2025",

month = oct,

doi = "10.1002/cpt.3749",

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Ubiquitous Pharmacogenomics Consortium, Guchelaar, H-J, van der Wouden, CH, Manson, LEN, Abdullah-Koolmees, H, Blagec, K, Blagus, T, Böhringer, S, Cecchin, E, Cheung, K-C, Deneer, VHM, Jonsson, S, Joefield-Roka, C, Just, KS, Karlsson, MO, Konta, L, Koopmann, R, Kriek, M, Lehr, T, Mitropoulou, C, Rollinson, V, Roncato, R, Samwald, M, Schaeffeler, E, Skokou, M, Schwab, M, Steinberger, D, Stingl, JC, Tremmel, R, Turner, RM, van Rhenen, MH, Dávila-Fajardo, CL, Dolžan, V, Patrinos, GP, Pirmohamed, M, Sunder-Plassmann, G, Toffoli, G & Swen, JJ 2025, 'Pharmacogenetic Implementation Studies-Lessons Learned From the PREPARE Study', Clinical Pharmacology and Therapeutics, vol. 118, no. 4, pp. 803-812. https://doi.org/10.1002/cpt.3749

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AU - Guchelaar, Henk-Jan

AU - van der Wouden, Cathelijne H

AU - Manson, Lisanne E N

AU - Abdullah-Koolmees, Heshu

AU - Blagec, Kathrin

AU - Blagus, Tanja

AU - Böhringer, Stefan

AU - Cecchin, Erika

AU - Cheung, Ka-Chun

AU - Deneer, Vera H M

AU - Jonsson, Siv

AU - Joefield-Roka, Candace

AU - Just, Katja S

AU - Karlsson, Mats O

AU - Konta, Lidija

AU - Koopmann, Rudolf

AU - Kriek, Marjolein

AU - Lehr, Thorsten

AU - Mitropoulou, Christina

AU - Rollinson, Victoria

AU - Roncato, Rossana

AU - Samwald, Matthias

AU - Schaeffeler, Elke

AU - Skokou, Maria

AU - Schwab, Matthias

AU - Steinberger, Daniela

AU - Stingl, Julia C

AU - Tremmel, Roman

AU - Turner, Richard M

AU - van Rhenen, Mandy H

AU - Dávila-Fajardo, Cristina L

AU - Dolžan, Vita

AU - Patrinos, George P

AU - Pirmohamed, Munir

AU - Sunder-Plassmann, Gere

AU - Toffoli, Giuseppe

AU - Swen, Jesse J

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JO - Clinical Pharmacology and Therapeutics

JF - Clinical Pharmacology and Therapeutics

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Pharmacogenetic Implementation Studies-Lessons Learned From the PREPARE Study

Abstract

Bibliographical note

Funding

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