Cost-effectiveness of pre-emptive pharmacogenetic testing: An umbrella review
Taichi Ochi, Manon G. den Uil, Greta Piazza, Geert W. J. Frederix, Eelko Hak, Vera H. M. Deneer, Talitha L. Feenstra
Abstract
Background
Consortia have been established and published pharmacogenetic-specific guidelines with pharmacotherapeutic recommendations. While these consortia and their guidance addressed important information gaps, implementation barriers, including determining the cost-effectiveness for further implementation in healthcare practice, remain unaddressed.
Introduction
Pharmacogenetic (PGx) tests are used to determine whether a patient carries genetic variants that influence the pharmacokinetics, effectiveness, or safety of drugs. Several consortia, such as the Dutch Pharmacogenetics Working Group (DPWG), Clinical Pharmacogenetics Implementation Consortium (CPIC), the Canadian Pharmacogenomics Network for Drug Safety (CPNDS), and the French National Network (Réseau) of Pharmacogenetics (RNPGx), were established and publish PGx-specific guidelines with pharmacotherapeutic recommendations [1].
Methods
Umbrella review methods
The authors systematically searched, organised, and evaluated data from systematic reviews and meta-analyses on pharmacoeconomic evaluations of PGx studies, taking care to avoid double-counting of overlapping studies. The umbrella review guideline by the JBI Manual for Evidence Synthesis was followed [16].
Results
Results from systematic reviews
Results from systematic reviews
Overview of the extraction process.
From the initial screening of the three databases, 35 review studies were retrieved from PubMed, 69 studies were retrieved from EMBASE, and 223 studies were retrieved from Web of Science (Fig 1).
Discussion
Over the years, health economic evaluations of PGx studies have increased in number and more often concluded that PGx testing was cost-effective. These findings are most relevant to the specific countries in which these studies were performed, and should be interpreted with caution, since study results were not quality assessed. Hence, a study was considered as cost-effective when the study authors made this conclusion.
Conclusion
Over the years, the number of economic evaluations concluding the cost-effectiveness of pharmacogenetic testing has increased proportionally. However, since many of the evaluation findings of this study were from the United States, a like-for-like interpretation of conclusions is not possible. It is important to keep in mind that cost-effectiveness is dependent on the country where the evaluation is conducted and will vary by local thresholds for cost-effectiveness, disease, gene type, study design, time horizon and perspective considered.
Citation: Ochi T, den Uil MG, Piazza G, Frederix GWJ, Hak E, Deneer VHM, et al. (2026) Cost-effectiveness of pre-emptive pharmacogenetic testing: An umbrella review. PLoS One 21(6): e0338277. https://doi.org/10.1371/journal.pone.0338277
Editor: Nejat Mahdieh, Shaheed Rajaei Cardiovascular Medical and Research Center: Rajaie Cardiovascular Medical and Research Center, IRAN, ISLAMIC REPUBLIC OF
Received: November 21, 2025; Accepted: June 2, 2026; Published: June 16, 2026
Copyright: © 2026 Ochi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Data Availability: All relevant data are within the paper and its Supporting Information files.
Funding: The author(s) received no specific funding for this work.
Competing interests: The authors have declared that no competing interests exist.
