OnCo
termsTerm

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

Reading the DNA (and sometimes RNA) of a tumour to list the mutations it carries and match them to drugs. Now routine in lung, colorectal, breast, prostate and many other cancers.

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.

Category
Clinic basics

Connected

16top

technologies

4
Comprehensive genomic profilingLiquid biopsy (ctDNA)RNA sequencing & expression profilingWhole-exome & whole-genome sequencing

drugs

1
ApprovedComprehensive genomic profiling test
FoundationOne CDx / Liquid CDx

terms

11
AdenocarcinomaBiomarkerBiopsyCompanion diagnosticDNADriver mutationMutationNext-generation sequencing (NGS)Targeted therapyVariant allele frequency (VAF)Variant of uncertain significance (VUS)