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- W4387402634 abstract "The All Wales Medical Genomics Service (AWMGS) has been a UK leader delivering precision medicine services since 2009, and targeted circulating tumour DNA (ctDNA) testing since 2016. The QuicDNA biomarker study aims to evaluate whether the addition of a liquid biopsy earlier in the lung cancer patient pathway to facilitate detection of genomic changes using ctDNA can accelerate access to targeted therapies in Wales. The study aims to perform ctDNA NGS for 1,260 patients within a 2-year period and perform statistical analysis with a matched comparison group of 1,260 patients. We report the in-house validation and implementation of the Illumina TruSight Oncology 500 ctDNA NGS assay and NovaSeq 6000TM for the detection of variants with potential therapeutic implications in patients with suspected NSCLC, thus enabling non-invasive testing of all targets with an associated therapy currently licensed for use in NSCLC in the UK. A virtual lung panel reporting single nucleotide variants and small insertions and deletions (EGFR, KRAS, BRAF, MET), along with gene fusions (involving ALK, ROS1, RET, NTRK1, NTRK2, NTRK3) was developed for the detection of variants in the region of 0.5% variant allele frequency. The test is being introduced across Wales gradually region by region, but will be provided for all Welsh patients with suspected NSCLC by the end of 2024. During validation the test achieved a sensitivity of >98%. Specificity was challenging to assess due to a lack of suitable control material and was preliminarily estimated to be >74%. Results of the testing performed over the first 6 months will be presented, including interesting cases with actionable variants in EGFR and MET. An interim report on the detection rate for actionable variants, the timing of reporting within the diagnostic pathway, and concordance with tissue testing will also be presented. Early results indicate that the addition of comprehensive liquid biopsy testing earlier in the patient pathway is able to guide treatment decision-making and is predicted to lead to better patient outcomes." @default.
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- W4387402634 date "2023-10-01" @default.
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- W4387402634 title "108P Validation and implementation of a large NGS panel to test liquid biopsies from patients with suspected advanced non-small cell lung cancer (NSCLC) in an NHS genomic laboratory for the QuicDNA biomarker study" @default.
- W4387402634 doi "https://doi.org/10.1016/j.esmoop.2023.101918" @default.
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