Evidence map›Paper›PMID 42302010›Full record

SynthesisPloS one2026

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 readSystematic Review
In one paragraph

Synthesis in PloS one, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Taichi OchiDepartment of PharmacoTherapy, -Epidemiology & -Economics, Groningen Research Institute of Pharmacy, University of Groningen, Groningen, the Netherlands‌‌.ORCID https://orcid.org/0000-0003-4285-690X
Manon G den UilDivision Laboratories, Pharmacy and Biomedical Genetics, Clinical Pharmacy, University Medical Centre Utrecht, Utrecht, the Netherlands.ORCID https://orcid.org/0009-0004-5622-668X
Greta PiazzaDepartment of PharmacoTherapy, -Epidemiology & -Economics, Groningen Research Institute of Pharmacy, University of Groningen, Groningen, the Netherlands‌‌.
Geert W J FrederixJulius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
Eelko HakDepartment of PharmacoTherapy, -Epidemiology & -Economics, Groningen Research Institute of Pharmacy, University of Groningen, Groningen, the Netherlands‌‌.
Vera H M DeneerDivision Laboratories, Pharmacy and Biomedical Genetics, Clinical Pharmacy, University Medical Centre Utrecht, Utrecht, the Netherlands.
Talitha L FeenstraDepartment of PharmacoTherapy, -Epidemiology & -Economics, Groningen Research Institute of Pharmacy, University of Groningen, Groningen, the Netherlands‌‌.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundConsortia 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.

methodsThe authors systematically searched PubMed, EMBASE, and Web of Science from inception to March 2023 for systematic reviews of pharmacoeconomic evaluations of PGx studies. A second search was conducted in October 2025. The studies from the databases were imported into Rayyan for screening the title and abstract, based on the inclusion and exclusion criteria. The umbrella review was conducted in adherence to the proposal registered in PROSPERO (CRD42023408535). The quality of eligible systematic reviews was assessed by the AMSTAR-2 checklist.

resultsFrom the initial screening of the three databases, title and abstract screening, and full paper readings, 17 systematic reviews were included for the umbrella review. The evidence points to the fact that with an increasing number of evaluations, the evidence for the cost-effectiveness of PGx testing was increasing over the years. From the included reviews, data from 211 unique evaluation studies were extracted. 150 (71.1%) studies reported that PGx testing was cost-effective. The most frequently used type of economic evaluation was cost-utility analysis (n = 78). Most economic evaluations investigated the pharmacogene CYP2C19 (n = 46), followed closely by CYP2C9/VKORC1 (n = 28).

conclusionsThe number of economic evaluations demonstrating cost-effectiveness of PGx testing has increased over the years. However, the majority of these evaluations were conducted in a small number of countries. When interpreting findings for different countries, the evaluations need to be adjusted on a case-by-case basis for applicability.

Indexed as

Cost-Benefit AnalysisCost-Effectiveness AnalysisPharmacogeneticsPharmacogenomic TestingHumans

Identifiers

PMID42302010
PMCPMC13271446

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.