Implementation of pre‐emptive testing of a pharmacogenomic panel in clinical practice: Where do we stand?

Adverse drug reactions (ADRs) account for a large proportion of hospitalizations among adults and are more common in multimorbid patients, worsening clinical outcomes and burdening healthcare resources. Over the past decade, pharmacogenomics has been developed as a practical tool for optimizing trea...

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Published in:British journal of clinical pharmacology Vol. 91; no. 2; pp. 270 - 282
Main Authors: Peruzzi, Elena, Roncato, Rossana, De Mattia, Elena, Bignucolo, Alessia, Swen, Jesse J., Guchelaar, Henk‐Jan, Toffoli, Giuseppe, Cecchin, Erika
Format: Journal Article
Language:English
Published: England John Wiley and Sons Inc 01.02.2025
Subjects:
adverse drug reactions
Cost-Effectiveness Analysis
Drug-Related Side Effects and Adverse Reactions - economics
Drug-Related Side Effects and Adverse Reactions - genetics
Drug-Related Side Effects and Adverse Reactions - prevention & control
Humans
Pharmacogenetics - economics
Pharmacogenetics - methods
Pharmacogenomic Testing - economics
Pharmacogenomic Testing - methods
pharmacogenomics
Precision Medicine - economics
Precision Medicine - methods
PREPARE trial
pre‐emptive
Randomized Controlled Trials as Topic
Themed Issue Review
pre‐emptive
adverse drug reactions
pharmacogenomics
PREPARE trial
ISSN:0306-5251, 1365-2125, 1365-2125
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Abstract Adverse drug reactions (ADRs) account for a large proportion of hospitalizations among adults and are more common in multimorbid patients, worsening clinical outcomes and burdening healthcare resources. Over the past decade, pharmacogenomics has been developed as a practical tool for optimizing treatment outcomes by mitigating the risk of ADRs. Some single‐gene reactive tests are already used in clinical practice, including the DPYD test for fluoropyrimidines, which demonstrates how integrating pharmacogenomic data into routine care can improve patient safety in a cost‐effective manner. The evolution from reactive single‐gene testing to comprehensive pre‐emptive genotyping panels holds great potential for refining drug prescribing practices. Several implementation projects have been conducted to test the feasibility of applying different genetic panels in clinical practice. Recently, the results of a large prospective randomized trial in Europe (the PREPARE study by Ubiquitous Pharmacogenomics consortium) have provided the first evidence that prospective application of a pre‐emptive pharmacogenomic test panel in clinical practice, in seven European healthcare systems, is feasible and yielded a 30% reduction in the risk of developing clinically relevant toxicities. Nevertheless, some important questions remain unanswered and will hopefully be addressed by future dedicated studies. These issues include the cost‐effectiveness of applying a pre‐emptive genotyping panel, the role of multiple co‐medications, the transferability of currently tested pharmacogenetic guidelines among patients of non‐European origin and the impact of rare pharmacogenetic variants that are not detected by currently used genotyping approaches.
AbstractList Adverse drug reactions (ADRs) account for a large proportion of hospitalizations among adults and are more common in multimorbid patients, worsening clinical outcomes and burdening healthcare resources. Over the past decade, pharmacogenomics has been developed as a practical tool for optimizing treatment outcomes by mitigating the risk of ADRs. Some single‐gene reactive tests are already used in clinical practice, including the DPYD test for fluoropyrimidines, which demonstrates how integrating pharmacogenomic data into routine care can improve patient safety in a cost‐effective manner. The evolution from reactive single‐gene testing to comprehensive pre‐emptive genotyping panels holds great potential for refining drug prescribing practices. Several implementation projects have been conducted to test the feasibility of applying different genetic panels in clinical practice. Recently, the results of a large prospective randomized trial in Europe (the PREPARE study by Ubiquitous Pharmacogenomics consortium) have provided the first evidence that prospective application of a pre‐emptive pharmacogenomic test panel in clinical practice, in seven European healthcare systems, is feasible and yielded a 30% reduction in the risk of developing clinically relevant toxicities. Nevertheless, some important questions remain unanswered and will hopefully be addressed by future dedicated studies. These issues include the cost‐effectiveness of applying a pre‐emptive genotyping panel, the role of multiple co‐medications, the transferability of currently tested pharmacogenetic guidelines among patients of non‐European origin and the impact of rare pharmacogenetic variants that are not detected by currently used genotyping approaches.
Adverse drug reactions (ADRs) account for a large proportion of hospitalizations among adults and are more common in multimorbid patients, worsening clinical outcomes and burdening healthcare resources. Over the past decade, pharmacogenomics has been developed as a practical tool for optimizing treatment outcomes by mitigating the risk of ADRs. Some single-gene reactive tests are already used in clinical practice, including the DPYD test for fluoropyrimidines, which demonstrates how integrating pharmacogenomic data into routine care can improve patient safety in a cost-effective manner. The evolution from reactive single-gene testing to comprehensive pre-emptive genotyping panels holds great potential for refining drug prescribing practices. Several implementation projects have been conducted to test the feasibility of applying different genetic panels in clinical practice. Recently, the results of a large prospective randomized trial in Europe (the PREPARE study by Ubiquitous Pharmacogenomics consortium) have provided the first evidence that prospective application of a pre-emptive pharmacogenomic test panel in clinical practice, in seven European healthcare systems, is feasible and yielded a 30% reduction in the risk of developing clinically relevant toxicities. Nevertheless, some important questions remain unanswered and will hopefully be addressed by future dedicated studies. These issues include the cost-effectiveness of applying a pre-emptive genotyping panel, the role of multiple co-medications, the transferability of currently tested pharmacogenetic guidelines among patients of non-European origin and the impact of rare pharmacogenetic variants that are not detected by currently used genotyping approaches.Adverse drug reactions (ADRs) account for a large proportion of hospitalizations among adults and are more common in multimorbid patients, worsening clinical outcomes and burdening healthcare resources. Over the past decade, pharmacogenomics has been developed as a practical tool for optimizing treatment outcomes by mitigating the risk of ADRs. Some single-gene reactive tests are already used in clinical practice, including the DPYD test for fluoropyrimidines, which demonstrates how integrating pharmacogenomic data into routine care can improve patient safety in a cost-effective manner. The evolution from reactive single-gene testing to comprehensive pre-emptive genotyping panels holds great potential for refining drug prescribing practices. Several implementation projects have been conducted to test the feasibility of applying different genetic panels in clinical practice. Recently, the results of a large prospective randomized trial in Europe (the PREPARE study by Ubiquitous Pharmacogenomics consortium) have provided the first evidence that prospective application of a pre-emptive pharmacogenomic test panel in clinical practice, in seven European healthcare systems, is feasible and yielded a 30% reduction in the risk of developing clinically relevant toxicities. Nevertheless, some important questions remain unanswered and will hopefully be addressed by future dedicated studies. These issues include the cost-effectiveness of applying a pre-emptive genotyping panel, the role of multiple co-medications, the transferability of currently tested pharmacogenetic guidelines among patients of non-European origin and the impact of rare pharmacogenetic variants that are not detected by currently used genotyping approaches.
Adverse drug reactions (ADRs) account for a large proportion of hospitalizations among adults and are more common in multimorbid patients, worsening clinical outcomes and burdening healthcare resources. Over the past decade, pharmacogenomics has been developed as a practical tool for optimizing treatment outcomes by mitigating the risk of ADRs. Some single‐gene reactive tests are already used in clinical practice, including the DPYD test for fluoropyrimidines, which demonstrates how integrating pharmacogenomic data into routine care can improve patient safety in a cost‐effective manner. The evolution from reactive single‐gene testing to comprehensive pre‐emptive genotyping panels holds great potential for refining drug prescribing practices. Several implementation projects have been conducted to test the feasibility of applying different genetic panels in clinical practice. Recently, the results of a large prospective randomized trial in Europe (the PREPARE study by Ubiquitous Pharmacogenomics consortium) have provided the first evidence that prospective application of a pre‐emptive pharmacogenomic test panel in clinical practice, in seven European healthcare systems, is feasible and yielded a 30% reduction in the risk of developing clinically relevant toxicities. Nevertheless, some important questions remain unanswered and will hopefully be addressed by future dedicated studies. These issues include the cost‐effectiveness of applying a pre‐emptive genotyping panel, the role of multiple co‐medications, the transferability of currently tested pharmacogenetic guidelines among patients of non‐European origin and the impact of rare pharmacogenetic variants that are not detected by currently used genotyping approaches.
Author Roncato, Rossana
Bignucolo, Alessia
Peruzzi, Elena
Toffoli, Giuseppe
Cecchin, Erika
De Mattia, Elena
Swen, Jesse J.
Guchelaar, Henk‐Jan
AuthorAffiliation 3 Department of Clinical Pharmacy and Toxicology Leiden University Medical Center Leiden The Netherlands
1 Experimental and Clinical Pharmacology, Centro di Riferimento Oncologico di Aviano, Istituti di Ricovero e Cura a Carattere Scientifico Aviano Italy
2 Department of Medicine University of Udine Udine Italy
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– name: 3 Department of Clinical Pharmacy and Toxicology Leiden University Medical Center Leiden The Netherlands
– name: 2 Department of Medicine University of Udine Udine Italy
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Issue 2
Keywords pre‐emptive
adverse drug reactions
pharmacogenomics
PREPARE trial
Language English
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2019; 176
2021; 23
2021; 22
2023; 37
2023; 38
2023; 381
2023; 388
2023; 8
2016; 223
2016; 100
2017; 9
2014; 0
2023; 24
2021; 39
2013; 94
2017; 34
2021; 110
2022; 126
2021; 109
2022; 154
2023; 13
2023; 14
2015; 16
2023; 12
2006; 12
2023; 17
2015; 99
2023; 19
2012; 380
2023; 401
2020; 107
2009; 27
2020; 108
2012; 92
2021; 12
2021; 11
2023
2022; 62
2017; 10
2017; 12
2015; 21
2019
2018
2023; 114
2016
2017; 19
2017; 18
2017; 101
2017; 102
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Kuch W (e_1_2_10_12_1) 2016; 223
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Snippet Adverse drug reactions (ADRs) account for a large proportion of hospitalizations among adults and are more common in multimorbid patients, worsening clinical...
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SubjectTerms adverse drug reactions
Cost-Effectiveness Analysis
Drug-Related Side Effects and Adverse Reactions - economics
Drug-Related Side Effects and Adverse Reactions - genetics
Drug-Related Side Effects and Adverse Reactions - prevention & control
Humans
Pharmacogenetics - economics
Pharmacogenetics - methods
Pharmacogenomic Testing - economics
Pharmacogenomic Testing - methods
pharmacogenomics
Precision Medicine - economics
Precision Medicine - methods
PREPARE trial
pre‐emptive
Randomized Controlled Trials as Topic
Themed Issue Review
Title Implementation of pre‐emptive testing of a pharmacogenomic panel in clinical practice: Where do we stand?
URI https://onlinelibrary.wiley.com/doi/abs/10.1111%2Fbcp.15956
https://www.ncbi.nlm.nih.gov/pubmed/37926674
https://www.proquest.com/docview/2886598497
https://pubmed.ncbi.nlm.nih.gov/PMC11773130
Volume 91
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