{"entity":{"id":"genomic-profiling","kind":"term","name":"Genomic profiling","aka":["genomic testing","genomic test","genomic tests","molecular profiling","molecular testing","molecular test","tumour sequencing","tumor sequencing","tumour profiling","tumor profiling","gene panel","gene panels","panel testing","panel sequencing","genotyping","genotyped","mutation testing","sequenced","sequencing","molecular tests"],"tldr":"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.","summary":"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.","asOf":"2026-09-09","wikipedia":"https://en.wikipedia.org/wiki/Cancer_genome_sequencing","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Cancer_genome_sequencing"}],"tags":[],"related":["ngs","mutation","driver-mutation","biomarker","vus","vaf","targeted-therapy-term","companion-diagnostic-term"],"cancers":[],"sections":[],"technologies":["cgp","liquid-biopsy","wes-wgs","rna-seq"],"targets":[],"drugs":["foundationone-cdx"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"category":"Clinic basics"},"route":"/terms/genomic-profiling/","neighbours":{"term":[{"id":"adenocarcinoma","kind":"term","name":"Adenocarcinoma","route":"/terms/adenocarcinoma/"},{"id":"biomarker","kind":"term","name":"Biomarker","route":"/terms/biomarker/"},{"id":"biopsy","kind":"term","name":"Biopsy","route":"/terms/biopsy/"},{"id":"companion-diagnostic-term","kind":"term","name":"Companion diagnostic","route":"/terms/companion-diagnostic-term/"},{"id":"dna-term","kind":"term","name":"DNA","route":"/terms/dna-term/"},{"id":"driver-mutation","kind":"term","name":"Driver mutation","route":"/terms/driver-mutation/"},{"id":"genomic-testing-biliary-uk","kind":"term","name":"HER2 and genomic testing for biliary cancer on the NHS","route":"/terms/genomic-testing-biliary-uk/"},{"id":"mutation","kind":"term","name":"Mutation","route":"/terms/mutation/"},{"id":"ngs","kind":"term","name":"Next-generation sequencing (NGS)","route":"/terms/ngs/"},{"id":"targeted-therapy-term","kind":"term","name":"Targeted therapy","route":"/terms/targeted-therapy-term/"},{"id":"vaf","kind":"term","name":"Variant allele frequency (VAF)","route":"/terms/vaf/"},{"id":"vus","kind":"term","name":"Variant of uncertain significance (VUS)","route":"/terms/vus/"}],"technology":[{"id":"cgp","kind":"technology","name":"Comprehensive genomic profiling","route":"/technologies/cgp/"},{"id":"liquid-biopsy","kind":"technology","name":"Liquid biopsy (ctDNA)","route":"/technologies/liquid-biopsy/"},{"id":"rna-seq","kind":"technology","name":"RNA sequencing & expression profiling","route":"/technologies/rna-seq/"},{"id":"wes-wgs","kind":"technology","name":"Whole-exome & whole-genome sequencing","route":"/technologies/wes-wgs/"}],"drug":[{"id":"foundationone-cdx","kind":"drug","name":"FoundationOne CDx / Liquid CDx","route":"/drugs/foundationone-cdx/"}],"institution":[{"id":"dnpm","kind":"institution","name":"Deutsches Netzwerk für Personalisierte Medizin","route":"/institutions/dnpm/"},{"id":"nngm","kind":"institution","name":"nationales Netzwerk Genomische Medizin Lungenkrebs","route":"/institutions/nngm/"},{"id":"wolfson-wohl-cancer-research-centre","kind":"institution","name":"Wolfson Wohl Cancer Research Centre, University of Glasgow","route":"/institutions/wolfson-wohl-cancer-research-centre/"}],"person":[{"id":"andrew-biankin","kind":"person","name":"Andrew Biankin","route":"/people/andrew-biankin/"}],"trial":[{"id":"precision-panc","kind":"trial","name":"Precision-Panc","route":"/trials/precision-panc/"}],"cancer":[{"id":"gallbladder","kind":"cancer","name":"Gallbladder cancer","route":"/cancers/gallbladder/"}],"journal":[{"id":"nature-biotechnology","kind":"journal","name":"Nature Biotechnology","route":"/journals/nature-biotechnology/"}]}}