Evidence map›Paper›PMID 40331624›Full record

ArticleClinical pharmacology and therapeutics2025

Implementing Pre-Emptive Pharmacogenetics: Impact of Early Pharmacogenetic Screening in a Pediatric Oncology Cohort of 1,151 Subjects.

Emma C Bernsen, Eugène T P Verwiel, Maaike van der Lee, Jesse J Swen, Marcel Santoso, Leiah J Brigitha, Rick Admiraal, Bastiaan B J Tops, Alwin D R Huitema, Patrick Kemmeren and 3 more

Abstract read
In one paragraph

Article in Clinical pharmacology and therapeutics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
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  3. Article
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

13 authors.

Emma C BernsenPrincess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.ORCID 0000-0002-0249-1216
Eugène T P VerwielPrincess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.ORCID 0000-0001-9663-6780
Maaike van der LeeDepartment of Clinical Pharmacy and Toxicology, Leiden University Medical Center, Leiden, The Netherlands.ORCID 0000-0003-3344-6896
Jesse J SwenDepartment of Clinical Pharmacy and Toxicology, Leiden University Medical Center, Leiden, The Netherlands.ORCID 0000-0002-3965-5552
Marcel SantosoPrincess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.ORCID 0009-0002-4433-9797
Leiah J BrigithaPrincess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.ORCID 0000-0003-2816-2610
Rick AdmiraalPrincess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.ORCID 0000-0003-1512-2791
Bastiaan B J TopsPrincess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.ORCID 0000-0002-1699-8210
Alwin D R HuitemaPrincess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.ORCID 0000-0003-1939-4639
Patrick KemmerenPrincess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.ORCID 0000-0003-2237-7354
Jayne Y Hehir-KwaPrincess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.ORCID 0000-0003-0837-304X
Lidwien M HanffPrincess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.ORCID 0000-0003-1127-1589
Meta H M DiekstraPrincess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.ORCID 0000-0002-9368-3650

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In pediatric oncology, pharmacogenetic guidelines are underutilized and the potential impact of pre-emptive pharmacogenetic screening remains largely unexplored despite this field's need for individualized approaches. While comprehensive pharmacogenetic guidelines are not yet available for all anticancer drugs, evidence-based recommendations exist for a subset of supportive care drugs and anticancer drugs, including thiopurines, irinotecan, capecitabine, and 5-fluorouracil. In this study, we evaluate the potential impact of pre-emptive pharmacogenetic screening by retrospectively identifying opportunities for dose or treatment adjustments within a national pediatric oncology cohort. Our analysis focused on ten genes and 28 drugs relevant to pediatric oncology, which are included in the Clinical Pharmacogenetics Implementation Consortium and the Dutch Pharmacogenetics Working Group guidelines. In a cohort of 1,151 pediatric oncology subjects, we identified that 16% of individuals could have benefited from altered drug dosing or treatment. These include dose and treatment recommendations for allopurinol, nonsteroidal anti-inflammatory drugs, phenytoin, amitriptyline, proton pump inhibitors, voriconazole, tramadol, codeine, paroxetine, tacrolimus, rasburicase, and 6-mercaptopurine. As genetic data increasingly becomes available through molecular diagnostics in pediatric oncology, there is a unique opportunity to re-utilize this data for pre-emptive pharmacogenetic screening. Leveraging genetic profiles to guide clinicians in drug selection and dose optimization can improve patient outcomes by enhancing the safety and efficacy of treatments. We therefore recommend incorporating pharmacogenetic screening into clinical workflows to advance personalized medicine in pediatric oncology.

Indexed as

Antineoplastic AgentsNeoplasmsPharmacogeneticsPharmacogenomic TestingAdolescentChildChild, PreschoolCohort StudiesFemaleHumansInfantMalePrecision MedicineRetrospective StudiesAntineoplastic Agents

Identifiers

PMID40331624
PMCPMC12272326

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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.