ArticleBritish journal of cancer2024
The potential clinical utility of Whole Genome Sequencing for patients with cancer: evaluation of a regional implementation of the 100,000 Genomes Project.
Article in British journal of cancer, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Improving the diagnosis of renal tumours of young people through integrated molecular analysis.Journal of cancer research and clinical oncology · 2026Article
- Genome-based medicine in Korea: the Korea National Institute of Health infrastructure for precision medicine.Childhood kidney diseases · 2026Review
- Supplementary biomarker testing in molecular tumor boards increases actionable therapy recommendations: a prospective real-world study of 658 patients.BMC medicine · 2026Article
- Precision Care for Hereditary Urologic Cancers: Genetic Testing, Counseling, Surveillance, and Therapeutic Implications.Current oncology (Toronto, Ont.) · 2025Review
- scFFPE-ATAC enables high-throughput single cell chromatin accessibility profiling in formalin-fixed paraffin-embedded samples.Nature communications · 2025Article
- Advances in Precision Oncology: From Molecular Profiling to Regulatory-Approved Targeted Therapies.Cancers · 2025Review
- Comprehensive genomic profiling requires a blended ecosystem of learning healthcare and clinical trials.British journal of cancer · 2025Article
- The value of large-scale programmes in human genomics.European journal of human genetics : EJHG · 2025Article
- Advancing Precision Medicine: The Role of Genetic Testing and Sequencing Technologies in Identifying Biological Markers for Rare Cancers.Cancer medicine · 2025Review
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Authors and funding
12 authors.
Funding
Abstract
backgroundThe 100,000 Genomes Project established infrastructure for Whole Genome Sequencing (WGS) in the United Kingdom.
methodsA retrospective study of cancer patients recruited to the 100,000 Genomes Project by the West Midlands Genomics Medicine Centre, evaluating clinical relevance of results.
resultsAfter excluding samples with no sequencing data (1678/4851; 34.6%), 3166 sample sets (germline and somatic) from 3067 participants were sequenced. Results of 1256 participants (41.0%) were interpreted (excluding participants who died (308/3067; 10.0%) or were clinically excluded (1503/3067; 49.0%)). Of these, 323 (25.7%) had no variants in genes which may alter management (Domain 1 genes). Of the remaining 933 participants, 552 (59.2%) had clinical recommendations made (718 recommendations in total). These included therapeutic recommendations (377/933; 40.4%), such as clinical trial, unlicensed or licensed therapies or high TMB recommendations, and germline variants warranting clinical genetics review (85/933; 9.1%). At the last follow up, 20.2% of all recommendations were followed (145/718). However, only a small proportion of therapeutic recommendations were followed (5.1%, 25/491).
conclusionsThe 100,000 Genomes Project has established infrastructure and regional experience to support personalised cancer care. The majority of those with successful sequencing had actionable variants. Ensuring GTAB recommendations are followed will maximise benefits for patients.
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