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Reading the DNA (and sometimes RNA) of a tumour, usually with a panel of a few hundred genes, to list its mutations, fusions and amplifications and match them to approved drugs or trials. Guidelines now require it before first-line treatment in lung, colorectal, breast and prostate cancer, though in several cancer types most tumours still show no actionable finding.
Most clinical profiling uses a targeted panel of a few hundred cancer-relevant genes sequenced from a biopsy or from blood (liquid biopsy); comprehensive genomic profiling (CGP) reports mutations, amplifications, fusions, tumour mutational burden and microsatellite status in one assay. The result is matched to approved drugs, trials and resistance mechanisms, ideally in a molecular tumour board, and guidelines now require testing before first-line treatment in several cancers. Limits include tumours with no actionable finding (still the majority in many types), variants of uncertain significance, sampling one spot of a heterogeneous tumour, and unequal access.
Showing the technology this term belongs to: Comprehensive genomic profiling.
Shares Wolfson Wohl Cancer Research Centre, University of Glasgow, Andrew Biankin, Precision-Panc, Gallbladder cancer.
Shares Variant of uncertain significance (VUS), Next-generation sequencing (NGS), Comprehensive genomic profiling.
Shares Biopsy, Next-generation sequencing (NGS), Comprehensive genomic profiling, Liquid biopsy (ctDNA).
Shares Deutsches Netzwerk für Personalisierte Medizin, Whole-exome & whole-genome sequencing, Comprehensive genomic profiling.
Shares Variant allele frequency (VAF), Next-generation sequencing (NGS), Comprehensive genomic profiling.
Shares Biopsy, Next-generation sequencing (NGS), Comprehensive genomic profiling, Liquid biopsy (ctDNA).
Shares Biopsy, Driver mutation, Whole-exome & whole-genome sequencing, Comprehensive genomic profiling.