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Sequencing hundreds of cancer genes at once from a biopsy to find the mutations a drug can target.
Targeted NGS panels of 300-600 genes (FoundationOne CDx, MSK-IMPACT, Tempus xT, Caris MI Profile, Guardant360 from blood) report mutations, copy number, fusions, TMB, and MSI. Guideline-recommended in advanced NSCLC, colorectal, breast, prostate, and most metastatic cancers. Adding RNA sequencing catches fusions DNA misses.
Hybrid-capture or amplicon enrichment of target genes followed by short-read sequencing; bioinformatic variant calling and annotation against knowledge bases like OncoKB.
Dependencies are what this technology cannot be delivered without: manufacturing steps, instruments, software, upstream methods. See its full chain on the map.
The FDA-approved tissue (324 genes) and blood genomic tests that serve as companion diagnostics for dozens of drugs.
A blood test that reads a tumour's mutations without a tissue biopsy and is the FDA-approved gateway to several targeted drugs.
The first drug approved for a gene fusion regardless of where the cancer started; it works in about 75% of NTRK-fusion cancers, from infant fibrosarcoma to salivary and thyroid cancers.
The first FDA-approved test that sequences all of a tumour's genes and gene activity at once, used to match patients to several targeted drugs.
The first FDA-approved gene panel that could match one biopsy to several different lung cancer drugs at once.
Tempus's tumour-and-normal gene panel, FDA-approved in 2023 as a companion test for EGFR antibodies in bowel cancer.
A large gene panel hospitals can run themselves, approved by the FDA in 2024 as a companion diagnostic for the tumour-agnostic drug larotrectinib.
Targeted therapy prevalence estimates from one country may not hold in another, so a UK cohort, with its own ancestry mix, would need its own molecular survey before assuming HER2 or other rates from Asian or Latin American series.
Patients with newly diagnosed metastatic colorectal cancer whose tumour carries a BRAF V600E mutation, which is about 8-12% of cases, should now be offered encorafenib and cetuximab together with FOLFOX from the start rather than after chemotherapy fails; median survival has roughly doubled to about two and a half years. BRAF testing at diagnosis is therefore essential, alongside RAS and mismatch repair testing. The regimen is more toxic than chemotherapy alone.
Evidence that the immune environment of gallbladder cancer differs by population even when the mutations do not; a reason to report gallbladder cancer and its regions separately in immunotherapy trials rather than as one biliary subgroup.
It is the strongest case that mutation burden is real biology in lung cancer and, at the same time, the clearest demonstration that its threshold is not fixed, which is why it never became a reliable selector.
It separates two explanations that are usually run together. Some of the difference in prostate cancer outcomes by race is in the tumour genome and persists when access to the same centre is held constant, and some of it tracks with income rather than with ancestry, so equalising access alone would not eliminate the gap.
It corrected a widely repeated simplification. An STK11 or KEAP1 mutation is not by itself a reason to expect immunotherapy to fail; it is a reason to expect it in a KRAS-mutant tumour, which is how the result should be read on a report.
It identifies a way that a good test produces a wrong answer, and it names the fix. Any plasma repair-gene result used to decide on a PARP inhibitor should be run with a paired blood control, or an older man may be treated for a marrow clone rather than for his prostate cancer.
It is the proof that plasma genotyping can enrol patients for a targeted colorectal trial, which matters most for a 2 to 3% alteration where archival tissue is often exhausted or out of date.
Query for this technology: (TITLE:"comprehensive genomic profiling" OR ABSTRACT:"comprehensive genomic profiling" OR TITLE:"next-generation sequencing panel" OR ABSTRACT:"next-generation sequencing panel" OR TITLE:"tumor sequencing" OR ABSTRACT:"tumor sequencing"). Results are unfiltered search hits about Comprehensive genomic profiling, not a curated reading list.
Shares Fund a biopsy at progression, every time, as standard care, Treat resistance like an infectious disease and run national surveillance, Mutation of the androgen-receptor gene in metastatic androgen-independent prostate cancer, Acquired EGFR C797S mutation mediates resistance to AZD9291 in non-small cell lung cancer harboring EGFR T790M.
Shares BostonGene, Valius Sciences, NHS Genomic Medicine Service, A standard evolvability score for every tumour.
Shares Recurrent IDH2 R172X mutations in sinonasal undifferentiated carcinoma, Reinhard Büttner, Every pathology and genomic report ships with a signed plain-language version, HERACLES criteria (HER2 in bowel cancer).
Shares A standing platform trial that assigns treatment by how the tumour escaped, Zhi-Ming Shao, ComboMATCH (EAY191), A DRUP-style protocol for off-label generic targeted drugs in rare tumours.
Shares MET exon 14 splicing alterations across tumour types and their sensitivity to MET inhibitors, Detection of NRG1 gene fusions in solid tumors, Acquired EGFR C797S mutation mediates resistance to AZD9291 in non-small cell lung cancer harboring EGFR T790M, EGFR C797S (and its phase with T790M).
Shares Labcorp, Strata Oncology, Michael F. Berger, Funda Meric-Bernstam.
Shares Fund a biopsy at progression, every time, as standard care, Drop mandatory fresh biopsies where blood or archival tissue would do, Acquired EGFR C797S mutation mediates resistance to AZD9291 in non-small cell lung cancer harboring EGFR T790M, I-PREDICT.
Shares LUNGevity Foundation (and GO2 for Lung Cancer), Inivata, Lucence, Look for the resistant sub-population before the first dose.
Open-source projects that implement or serve this technology, from OnCo's own catalogue: licence and last activity as the repository reported them on the day of the fetch. Listing is not endorsement; check the licence before reuse and the validation before clinical use.
Turns a tumour's somatic variant calls into an interpreted clinical report: driver annotation, actionability tiers, tumour mutational burden, MSI and mutational signatures.
Converts VCF variant files into HL7 FHIR Genomics Reporting resources.
The FHIR implementation guide for reporting genomic results, the basis for exchanging tumour sequencing reports.
Callable Cancer Loci: assesses whether the clinically actionable positions in a sequencing sample had enough coverage to be called.
Commercial and regulated products that serve this technology. Each card says what is behind it: a regulator's database, the literature, a public body's list, or only the company's own words. Listing is not endorsement, and a clearance is a regulatory fact, not a clinical one.
A comprehensive genomic profiling test and the report software around it, approved as a companion diagnostic for a long and growing list of drugs.
A blood-based genomic profiling test with the reporting and companion-diagnostic claims that let a result choose a drug without a tissue biopsy.
Caris's approved whole-exome and whole-transcriptome profiling test, with the reporting layer that turns it into treatment options.
A sequencing panel and the interpretation platform Tempus reports it through, sold alongside its real-world data and trial-matching products.
A hospital's own targeted sequencing test and its analysis pipeline, authorised in the United States and the source of one of the largest public clinical sequencing cohorts.
An approved targeted sequencing test with companion diagnostic claims, run on the Ion Torrent platform in hospital laboratories rather than sent away.
Open-source software, hardware and data projects catalogued by a third party, the Open Medical Registry, that bear on this technology. Listing is not endorsement; check each project's own licence and validation before clinical use.
Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer
A modular annotation tool for genomic variants
Analysis pipeline to detect germline or somatic variants (pre-processing, variant calling and annotation) from WGS / targeted sequencing
From the Open Medical Registry (openmedical.sh), an MIT-licensed catalogue of open-source medicine. Blurbs are one line from each registry record; every project keeps its own licence.