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Practical guide to implementing pre-emptive pharmacogenetic screening in routine pediatric oncology care

Emma C Bernsen1, Lidwien M Hanff1, Theodorus W Kouwenberg1

  • 1Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands.

Pharmacogenomics
|June 9, 2026
PubMed

Insights

Pre-emptive pharmacogenetics (PGx) screening in pediatric oncology helps tailor drug doses, improving treatment. Implementation in the Netherlands involved adapting infrastructure and integrating genetic data into clinical practice.

Area of Science:

  • Pharmacogenomics
  • Pediatric Oncology
  • Clinical Implementation Science

Background:

  • Interindividual variability in drug response poses challenges in pediatric oncology due to narrow therapeutic windows and combination therapies.
  • Pharmacogenetics (PGx) links genetic variants to drug pharmacokinetics, efficacy, and toxicity, aiming to reduce variability.
  • Despite available PGx guidelines, pre-emptive screening is not routinely used in pediatric oncology.

Purpose of the Study:

  • To describe the implementation strategy for pre-emptive pharmacogenetics (PGx) screening in pediatric oncology in the Netherlands.
  • To share insights and address challenges encountered during the integration of PGx screening into routine clinical practice.
  • To support other centers in adopting PGx screening for pediatric cancer patients.

Main Methods:

  • Repurposed diagnostic germline whole genome sequencing (WGS) for individual genetic profiling.
  • Applied existing pharmacogenetic guidelines to interpret results and guide drug dosing and treatment decisions.
  • Addressed implementation challenges including infrastructure, result interpretation for pediatrics, EHR integration, and staff education.

Main Results:

  • A previous study showed 16% of 1,151 pediatric patients were eligible for genotype-based drug dose or treatment modifications.
  • Successfully implemented pre-emptive PGx screening into clinical practice in a Dutch pediatric oncology setting.
  • Identified key challenges and developed strategies for successful integration into routine care.

Conclusions:

  • Pre-emptive PGx screening is relevant for optimizing drug therapy in pediatric oncology.
  • Successful implementation requires addressing infrastructure, interpretation, EHR integration, and education.
  • The described strategy and insights can guide other centers in integrating PGx screening into pediatric oncology care.
Keywords:
implementationpediatric oncologypharmacogeneticspharmacogenomicspre-emptive pharmacogenetic screening

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