ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2025
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.
Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Impact of First-of-Its-Kind Patient-Facing Pharmacogenetics Tool on Dosing Decisions and Treatment Outcomes.Clinical pharmacology and therapeutics · 2025Trial
- Pharmacogenomics in oncology: mutation-targeted therapy and biomarker integration in non-small cell lung cancer.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Review
- Population-scale genomic medicine with the Hong Kong Genome Project.Nature medicine · 2026Article
- Next-generation sequencing: Driving a paradigm shift from pathogen detection to systems-level analysis.Infectious medicine · 2026Article
- Therapeutic Drug Monitoring and Pharmacogenomics of Thiopurines in Inflammatory Bowel Disease: International Guidelines Revisited.Therapeutic drug monitoring · 2026Review
- Management of adverse events in patients with pediatric low-grade glioma treated with MAPK-directed therapies: Delphi consensus recommendations and unmet needs.Neuro-oncology practice · 2026Article
- Integrating Somatic and Germline Pharmacogenomics for Therapeutic Decisions in Precision Oncology.JCO precision oncology · 2026Article
- Analytical Validation of an Annotation Tool for WGS-Based Pharmacogenomics: Preparing for Clinical Implementation in Pediatric Oncology.Clinical and translational science · 2026Article
- Gene-centered representation of coding and regulatory variation enables outcome prediction.bioRxiv : the preprint server for biology · 2026Article
- Interpretable machine-learning prediction of severe myelosuppression in colorectal cancer patients receiving chemotherapy using XGBoost and SHAP: a retrospective study with a web-based calculator.Frontiers in oncology · 2026Article
- Genomics in Health and Biomedicine.Advances in experimental medicine and biology · 2026Review
- The global cancer crisis: a review of growing burden, deepening inequality and initiatives for prevention and early detection.Ecancermedicalscience · 2026Review
- Determining the value of genomics in healthcare.Nature medicine · 2025Review
- Identification of CAV1 and CDH5 as potential diagnostic and prognostic biomarkers in lung adenocarcinoma.Experimental and therapeutic medicine · 2025Article
- Artificial Intelligence and Multi-Omics in Pharmacogenomics: A New Era of Precision Medicine.Mayo Clinic proceedings. Digital health · 2025Review
- Population Pharmacokinetics Model of Thioguanine in Patients with Inflammatory Bowel Disease.Clinical pharmacokinetics · 2025Article
- Sexual dimorphism in metabolomic and phenotypic spectra of UGT deficiency: findings from the Canadian Longitudinal Study on Aging.Biology of sex differences · 2025Article
- Neoadjuvant immunotherapy for dMMR and pMMR colorectal cancers: therapeutic strategies and putative biomarkers of response.Nature reviews. Clinical oncology · 2024Review
Corrections and comments
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Authors and funding
36 authors.
Funding
Abstract
purposeAs part of the 100,000 Genomes Project, we set out to assess the potential viability and clinical impact of reporting genetic variants associated with drug-induced toxicity for patients with cancer recruited for whole-genome sequencing (WGS) as part of a genomic medicine service.
methodsGermline WGS from 76,805 participants was analyzed for pharmacogenetic (PGx) variants in four genes (
resultsWe identified clinically relevant PGx variants across the four genes in 62.7% of participants in our cohort. Extending this to annual prescription numbers in England for the drugs affected by these PGx variants, approximately 14,540 patients per year could potentially benefit from a reduced dose or alternative drug to reduce the risk of ADRs. Validating PGx associations in a real-world data set, we found a significant association between PGx variants in
conclusionReporting PGx variants from germline WGS relevant to patients with cancer alongside primary findings related to their cancer can be clinically informative, informing prescribing to reduce the risk of ADRs. Extending the range of actionable variants to those found in patients of non-European ancestry is important and will extend the potential clinical impact.
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