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Peer-Reviewed Publication
J Clin Oncol2025;43(6):682-693.February 20, 2025Journal Article

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.

Ivone U S Leong1, Claudia P Cabrera2,3,4, Valentina Cipriani2, Paul J Ross5, Richard M Turner6,7, Alex Stuckey1, Sonali Sanghvi8, Dorota Pasko1, Loukas Moutsianas1, Christopher A Odhams1, Greg S Elgar1, Georgia Chan1, Adam Giess1, Susan Walker1, Rebecca E Foulger9, Eleanor M Williams1, Louise C Daugherty1, Antonio Rueda-Martin1, Daniel J Rhodes10, Olivia Niblock11, Alexandra Pickard12, Lauren Marks12, Sarah E A Leigh1, Matthew J Welland1, Marta Bleda1, Catherine Snow1, Zandra Deans12,13, Nirupa Murugaesu1,5, Richard H Scott1, Michael R Barnes2,3,4, Matthew A Brown1,14, Augusto Rendon1, Sue Hill12, Alona Sosinsky1, Mark J Caulfield2,15, Ellen M McDonagh16,17,18
1Genomics England Ltd, Level 21 One Canada Square, London, United Kingdom.
2Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, Charterhouse Square, London, United Kingdom.
3NIHR Barts Cardiovascular Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
4Centre for Translational Bioinformatics, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.
5Guy's & St Thomas' NHS Foundation Trust, London, United Kingdom.
6Wolfson Centre for Personalised Medicine, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, United Kingdom.
7GSK, Stevenage, Hertfordshire, United Kingdom.
8Integrating Pharmacy & Medicines Optimisation Team, NHS North Central London Integrated Care System, UCLH NHS Foundation Trust, London.
9SciBite Limited, BioData Innovation Centre, Wellcome Genome Campus, Hinxton, UK.
10BenevolentAI, London, United Kingdom.
11Cambridge Genomics Laboratory, United Kingdom.
12NHS England and NHS Improvement, London, United Kingdom.
13GenQA, Laboratory Medicine, NHS Lothian NINE, Edinburgh, United Kingdom.
14Department of Medical and Molecular Genetics, Faculty of Life Sciences and Medicine, King's College London, London, United Kingdom.
15Faculty of Medicine and Dentistry, VP Health Office, Queen Mary University of London, London, United Kingdom.
16Open Targets, Wellcome Genome Campus, Hinxton, United Kingdom.
17European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, United Kingdom.
18Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.
PubMed PMC DOI PDF

Abstract

PURPOSE: As 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. METHODS: Germline WGS from 76,805 participants was analyzed for pharmacogenetic (PGx) variants in four genes…

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