{"id":"diagnostics-roadmap","name":"Diagnostics roadmap: stains → gene panels → blood tests that decide treatment","route":"/roadmaps/diagnostics-roadmap/","eras":[{"era":"1940s-1990s","title":"Morphology, stains and the first companion test","description":"Haematoxylin and eosin, then immunohistochemistry and FISH, defined cancer by appearance and a handful of proteins. HER2 testing approved alongside trastuzumab in 1998 created the companion diagnostic: a test whose result is the gate to a drug. Every targeted therapy since has been launched with one.","status":"historic","refs":[{"id":"histopathology-ihc","kind":"technology","name":"Histopathology & immunohistochemistry","route":"/technologies/histopathology-ihc/","status":"standard-of-care","tldr":"Histopathology means looking at cancer cells under a microscope, and immunohistochemistry stains them for specific proteins. Together they are still the foundation of every diagnosis."},{"id":"cytogenetics-fish","kind":"technology","name":"Cytogenetics and FISH","route":"/technologies/cytogenetics-fish/","status":"standard-of-care","tldr":"Looking at the leukaemia's chromosomes under a microscope, or lighting up specific gene breaks with fluorescent probes, to classify risk."},{"id":"her2-testing-assays","kind":"drug","name":"HER2 IHC and ISH companion assays (HercepTest, PATHWAY 4B5, HER2 Dual ISH)","route":"/drugs/her2-testing-assays/","status":"approved","tldr":"The tests that grade a breast or stomach cancer's HER2 level, from the original trastuzumab test in 1998 to the new 'HER2-low' and 'ultralow' cut-offs."},{"id":"companion-diagnostic","kind":"technology","name":"Companion diagnostics","route":"/technologies/companion-diagnostic/","status":"standard-of-care","tldr":"The test that decides whether a specific drug is right for you, approved together with the drug."},{"id":"core-needle-biopsy","kind":"term","name":"Core needle biopsy and fine-needle aspiration (FNA)","route":"/terms/core-needle-biopsy/","tldr":"Taking a sliver of tissue (core) or a few cells (fine-needle aspiration) through a needle guided by ultrasound, CT or MRI, to diagnose the cancer and test its markers without surgery."}],"trials":[],"papers":[]},{"era":"2000s-2010s","title":"Single-gene tests and gene-expression signatures","description":"PCR kits for EGFR, KRAS and BRAF matched the first kinase inhibitors to the right patients; the cobas EGFR test became the first blood-based companion diagnostic. Gene-expression signatures did the opposite job, identifying who could safely skip treatment: TAILORx (2018) and RxPONDER showed that most women with early hormone-positive breast cancer and a low Oncotype DX score gain nothing from chemotherapy.","status":"historic","refs":[{"id":"cobas-egfr-mutation-test","kind":"drug","name":"cobas EGFR Mutation Test v2","route":"/drugs/cobas-egfr-mutation-test/","status":"approved","tldr":"The lung cancer gene test that became the first blood-based companion diagnostic the FDA ever approved."},{"id":"therascreen-cdx","kind":"drug","name":"therascreen companion diagnostic kits (KRAS, EGFR, PIK3CA, FGFR, BRAF)","route":"/drugs/therascreen-cdx/","status":"approved","tldr":"A family of quick single-gene tests that decide who can have several bowel, lung, breast and bladder cancer drugs."},{"id":"oncotype-dx","kind":"drug","name":"Oncotype DX","route":"/drugs/oncotype-dx/","status":"established","tldr":"A 21-gene test that tells most women with early hormone-positive breast cancer whether they can safely skip chemotherapy."},{"id":"tailorx","kind":"trial","name":"TAILORx","route":"/trials/tailorx/","status":"positive","tldr":"Showed that most women with the commonest breast cancer can safely skip chemotherapy if a gene test says their risk is low or intermediate."},{"id":"rxponder","kind":"trial","name":"RxPONDER (SWOG S1007)","route":"/trials/rxponder/","status":"positive","tldr":"Postmenopausal women with a few positive lymph nodes and a low gene-test score can skip chemotherapy; premenopausal women still benefit from it."},{"id":"mammaprint","kind":"drug","name":"MammaPrint (70-gene signature)","route":"/drugs/mammaprint/","status":"established","tldr":"A 70-gene test that tells whether an early breast cancer is genomically low or high risk, used to decide who can skip chemotherapy."},{"id":"prosigna","kind":"drug","name":"Prosigna (PAM50)","route":"/drugs/prosigna/","status":"approved","tldr":"A 50-gene test run in local hospital laboratories that estimates the ten-year risk of a hormone-positive breast cancer coming back."}],"trials":[{"id":"tailorx","name":"TAILORx","route":"/trials/tailorx/","outcomes":[{"endpoint":"Invasive disease-free survival at 9 years (RS 11-25)","primary":true,"unit":"%","arms":[{"name":"Endocrine therapy alone","n":3399,"value":83.3},{"name":"Chemo-endocrine therapy","n":3312,"value":84.3}],"hr":1.08,"ci":[0.94,1.24],"source":"https://www.nejm.org/doi/full/10.1056/NEJMoa1804710"}],"setting":"HR+/HER2-, node-negative early breast cancer with Oncotype DX recurrence score 11-25: endocrine therapy alone vs chemo-endocrine therapy","enrolled":10273,"enrolledBasis":"registry"},{"id":"rxponder","name":"RxPONDER (SWOG S1007)","route":"/trials/rxponder/","outcomes":[{"endpoint":"5-year iDFS, postmenopausal","primary":true,"unit":"%","arms":[{"name":"Endocrine alone","value":91.9},{"name":"Chemo-endocrine","value":91.3}],"hr":1.02,"source":"https://www.nejm.org/doi/full/10.1056/NEJMoa2108873"},{"endpoint":"5-year iDFS, premenopausal","primary":true,"unit":"%","arms":[{"name":"Endocrine alone","value":89},{"name":"Chemo-endocrine","value":93.9}],"hr":0.6,"ci":[0.43,0.83],"source":"https://doi.org/10.1056/NEJMoa2108873"}],"setting":"HR+/HER2- breast cancer with 1-3 positive nodes and recurrence score ≤25: endocrine therapy alone vs chemo-endocrine therapy","enrolled":5018,"enrolledBasis":"registry"}],"papers":[]},{"era":"2017-2022","title":"Comprehensive profiling and tumour-agnostic biomarkers","description":"Sequencing hundreds of genes at once (FoundationOne CDx, TruSight Oncology, Tempus xT) replaced serial single-gene tests, and the biomarker began to matter more than the organ: pembrolizumab for any mismatch-repair-deficient tumour and larotrectinib for any NTRK fusion made the test the indication. Guardant360 CDx did the same from blood. Variant knowledgebases and molecular tumour boards turned raw variants into decisions.","status":"current","refs":[{"id":"cgp","kind":"technology","name":"Comprehensive genomic profiling","route":"/technologies/cgp/","status":"standard-of-care","tldr":"Sequencing hundreds of cancer genes at once from a biopsy to find the mutations a drug can target."},{"id":"foundationone-cdx","kind":"drug","name":"FoundationOne CDx / Liquid CDx","route":"/drugs/foundationone-cdx/","status":"approved","tldr":"The FDA-approved tissue (324 genes) and blood genomic tests that serve as companion diagnostics for dozens of drugs."},{"id":"trusight-oncology-comprehensive","kind":"drug","name":"TruSight Oncology Comprehensive","route":"/drugs/trusight-oncology-comprehensive/","status":"approved","tldr":"A large gene panel hospitals can run themselves, approved by the FDA in 2024 as a companion diagnostic for the tumour-agnostic drug larotrectinib."},{"id":"tempus-xt-cdx","kind":"drug","name":"Tempus xT CDx","route":"/drugs/tempus-xt-cdx/","status":"approved","tldr":"Tempus's tumour-and-normal gene panel, FDA-approved in 2023 as a companion test for EGFR antibodies in bowel cancer."},{"id":"guardant360-cdx","kind":"drug","name":"Guardant360 CDx","route":"/drugs/guardant360-cdx/","status":"approved","tldr":"A blood test that reads a tumour's mutations without a tissue biopsy and is the FDA-approved gateway to several targeted drugs."},{"id":"msi-mmr-testing","kind":"technology","name":"MSI and mismatch-repair testing","route":"/technologies/msi-mmr-testing/","status":"standard-of-care","tldr":"Tests that show whether a tumour has lost its DNA spell-checker; if so, immunotherapy works unusually well and an inherited syndrome may be present."},{"id":"tmb-testing","kind":"technology","name":"Tumour mutational burden testing","route":"/technologies/tmb-testing/","status":"established","tldr":"Counting how many mutations a tumour carries per stretch of DNA; heavily mutated tumours are more likely to respond to immunotherapy."},{"id":"hrd-testing","kind":"technology","name":"HRD & BRCA testing","route":"/technologies/hrd-testing/","status":"standard-of-care","tldr":"Tests that reveal whether a tumour has a broken DNA repair system, which predicts response to PARP inhibitors and platinum."},{"id":"variant-knowledgebases","kind":"technology","name":"Cancer variant knowledgebases and molecular tumour boards","route":"/technologies/variant-knowledgebases/","status":"established","tldr":"Curated databases that say what each mutation means for treatment, and the expert meetings that use them to decide on therapy."},{"id":"multidisciplinary-tumour-board","kind":"technology","name":"Multidisciplinary tumour boards","route":"/technologies/multidisciplinary-tumour-board/","status":"standard-of-care","tldr":"Multidisciplinary tumour boards are regular meetings where surgeons, oncologists, radiologists and pathologists review each patient's case with the full dataset and agree a plan before treatment starts. They are mandatory in the UK and for accreditation in the US, Europe and Germany, and change the diagnosis or plan in 10 to 30% of cases, though randomised evidence is lacking."},{"id":"tumour-agnostic","kind":"term","name":"Tumour-agnostic (tissue-agnostic) approval","route":"/terms/tumour-agnostic/","tldr":"A tumour-agnostic approval lets a drug be used for any cancer carrying a specific molecular feature, regardless of where it started."}],"trials":[],"papers":[]},{"era":"2022-2026","title":"Blood tests that change treatment in randomised trials","description":"Molecular residual disease testing crossed from prognosis to action. DYNAMIC (2022) halved adjuvant chemotherapy in stage II colon cancer with no loss of recurrence-free survival; CIRCULATE-Japan runs the same question at national scale; SERENA-6 switched endocrine therapy when an ESR1 mutation appeared in blood before a scan showed progression; and IMvigor011 delivered the first ctDNA-guided approval, in bladder cancer, in 2026. Tumour-informed (Signatera, RaDaR) and tumour-naive (Guardant Reveal) assays now compete on sensitivity and turnaround.","status":"current","refs":[{"id":"mrd-testing","kind":"technology","name":"MRD / molecular residual disease testing","route":"/technologies/mrd-testing/","status":"established","tldr":"An ultra-sensitive blood test after surgery that detects leftover cancer months before a scan would."},{"id":"liquid-biopsy","kind":"technology","name":"Liquid biopsy (ctDNA)","route":"/technologies/liquid-biopsy/","status":"standard-of-care","tldr":"A blood test that reads fragments of DNA shed by the tumour, so you can genotype or monitor cancer without a needle in the tumour."},{"id":"dynamic","kind":"trial","name":"DYNAMIC","route":"/trials/dynamic/","status":"positive","tldr":"Showed that a blood test can safely halve the number of colon cancer patients given chemotherapy after surgery."},{"id":"circulate-japan","kind":"trial","name":"CIRCULATE-Japan (GALAXY / VEGA / ALTAIR)","route":"/trials/circulate-japan/","status":"active","tldr":"Japan's national programme tests whether a blood test after surgery should decide who gets chemotherapy, and whether treating a positive test early helps."},{"id":"serena-6","kind":"trial","name":"SERENA-6","route":"/trials/serena-6/","status":"positive","tldr":"The first trial to change treatment because of a blood test rather than a scan: switching to camizestrant when an ESR1 mutation appeared in the blood delayed progression by seven months."},{"id":"imvigor011","kind":"trial","name":"IMvigor011","route":"/trials/imvigor011/","status":"positive","tldr":"The first trial to use a blood test for leftover cancer to decide who gets immunotherapy, and it worked."},{"id":"signatera","kind":"drug","name":"Signatera","route":"/drugs/signatera/","status":"established","tldr":"Signatera is Natera's tumour-informed blood test that tracks 16 mutations from each patient's own tumour to detect residual or returning cancer after surgery. Medicare covers it in colorectal, breast, bladder, lung and ovarian cancer and for immunotherapy monitoring, and in 2026 it selected the bladder cancer patients for the first approval based on circulating tumour DNA."},{"id":"radar-mrd","kind":"drug","name":"RaDaR","route":"/drugs/radar-mrd/","status":"established","tldr":"NeoGenomics' personalised blood test for tiny amounts of leftover cancer, tracking up to 48 mutations from the patient's own tumour."},{"id":"guardant-reveal","kind":"drug","name":"Guardant Reveal","route":"/drugs/guardant-reveal/","status":"established","tldr":"A blood test for leftover cancer after surgery that needs no tumour sample, so results come faster than tumour-informed tests."},{"id":"insight-gist","kind":"trial","name":"INSIGHT","route":"/trials/insight-gist/","status":"active","tldr":"A blood-test-selected trial testing whether matching the drug to the specific resistance mutation beats the standard second-line drug."}],"trials":[{"id":"dynamic","name":"DYNAMIC","route":"/trials/dynamic/","outcomes":[{"endpoint":"Recurrence-free survival at 2 years (non-inferiority)","primary":true,"unit":"%","arms":[{"name":"ctDNA-guided management","n":302,"value":93.5,"note":"Non-inferiority met (margin −8.5 points)"},{"name":"Standard management","n":153,"value":92.4}],"source":"https://www.nejm.org/doi/full/10.1056/NEJMoa2200075"},{"endpoint":"Patients receiving adjuvant chemotherapy","unit":"%","arms":[{"name":"ctDNA-guided management","value":15},{"name":"Standard management","value":28}],"p":"<0.001","source":"https://www.nejm.org/doi/full/10.1056/NEJMoa2200075"}],"setting":"Stage II colon cancer: ctDNA-guided adjuvant chemotherapy vs standard management","enrolled":455,"enrolledBasis":"registry"},{"id":"circulate-japan","name":"CIRCULATE-Japan (GALAXY / VEGA / ALTAIR)","route":"/trials/circulate-japan/","outcomes":[{"endpoint":"GALAXY (observational): recurrence risk by post-operative ctDNA status (4 weeks after surgery)","arms":[{"name":"ctDNA-positive","note":"n = 1,039 resectable stage II-IV CRC; ctDNA positivity was the strongest prognostic factor and identified who benefited from adjuvant chemotherapy (HR 6.59)"},{"name":"ctDNA-negative"}],"hr":10,"p":"<0.0001","source":"https://doi.org/10.1038/s41591-022-02115-4"},{"endpoint":"ALTAIR (randomised phase 3): disease-free survival in post-adjuvant ctDNA-positive patients","primary":true,"unit":"months","arms":[{"name":"Trifluridine/tipiracil","n":122,"value":9.3,"note":"Primary endpoint not met"},{"name":"Placebo","n":121,"value":5.55}],"hr":0.79,"ci":[0.6,1.05],"p":"0.107","source":"https://doi.org/10.1038/s41591-026-04428-0"}],"setting":"Resected stage II-IV colorectal cancer: ctDNA (Signatera) to guide adjuvant chemotherapy de-escalation (VEGA) or escalation with trifluridine/tipiracil (ALTAIR)","enrolledBasis":"registry"},{"id":"serena-6","name":"SERENA-6","route":"/trials/serena-6/","outcomes":[{"endpoint":"Progression-free survival","primary":true,"unit":"months","arms":[{"name":"Switch to camizestrant + CDK4/6","n":157,"value":16},{"name":"Continue AI + CDK4/6","n":158,"value":9.2}],"hr":0.44,"ci":[0.31,0.6],"p":"<0.0001","source":"https://www.onclive.com/view/fda-approves-camizestrant-plus-a-cdk4-6-inhibitor-for-emergent-esr1-mutated-hr-her2-advanced-breast-cancer"}],"setting":"First-line HR+/HER2- advanced breast cancer on AI + CDK4/6 with an ESR1 mutation detected in ctDNA before radiographic progression: switch to camizestrant + CDK4/6 vs continue AI + CDK4/6","enrolled":315,"enrolledBasis":"registry"},{"id":"imvigor011","name":"IMvigor011","route":"/trials/imvigor011/","outcomes":[{"endpoint":"Disease-free survival (ctDNA-positive, randomised)","primary":true,"unit":"months","arms":[{"name":"Atezolizumab","n":167,"value":9.9},{"name":"Placebo","n":83,"value":4.8}],"hr":0.64,"ci":[0.47,0.88],"p":"0.005","source":"https://www.roche.com/media/releases/med-cor-2025-10-20b"},{"endpoint":"Overall survival (ctDNA-positive)","unit":"months","arms":[{"name":"Atezolizumab","value":32.8},{"name":"Placebo","value":21.1}],"hr":0.59,"ci":[0.41,0.86],"p":"0.005","source":"https://www.roche.com/media/releases/med-cor-2025-10-20b"},{"endpoint":"Disease-free survival at 12 months, persistently ctDNA-negative (untreated surveillance)","unit":"%","arms":[{"name":"ctDNA-negative, surveillance only","n":357,"value":95.4,"note":"12-month OS 100% in this group"}],"source":"https://www.roche.com/media/releases/med-cor-2025-10-20b"}],"setting":"Muscle-invasive bladder cancer after cystectomy, ctDNA-positive (Signatera): atezolizumab vs placebo","enrolled":761,"enrolledBasis":"registry"}],"papers":[]},{"era":"2024-2028","title":"Slides become data","description":"Whole-slide scanning made the microscope image computable, and foundation models trained on millions of slides now predict biomarkers, recurrence risk and treatment benefit from a routine stain. ArteraAI Prostate (2025) was the first AI test cleared to predict benefit from a therapy; ArteraAI Breast followed in 2026. MASAI showed in a randomised screening trial that AI reading finds more cancers with less radiologist workload. The open question is prospective proof that AI-derived biomarkers should change treatment, and a regulatory route for models that keep learning.","status":"emerging","refs":[{"id":"digital-pathology-ai","kind":"technology","name":"Digital pathology & AI","route":"/technologies/digital-pathology-ai/","status":"established","tldr":"Scanning microscope slides and letting software measure things a pathologist cannot see, including predictions of who will benefit from a treatment."},{"id":"pathology-foundation-model","kind":"technology","name":"Pathology & radiology foundation models","route":"/technologies/pathology-foundation-model/","status":"emerging","tldr":"Pathology and radiology foundation models are AI networks pretrained without labels on over a million slides or scans (Virchow used 1.5 million), then adapted with small task heads to predict mutations, prognosis or treatment response from routine images. They power the FDA-cleared ArteraAI tools, but validation across hospitals and how regulators treat general-purpose models remain unsettled."},{"id":"whole-slide-scanners","kind":"technology","name":"Whole-slide scanners and image management","route":"/technologies/whole-slide-scanners/","status":"established","tldr":"The scanners that turn glass slides into gigapixel images, and the software that stores and serves them, without which pathology AI cannot run."},{"id":"virchow","kind":"technology","name":"Virchow / Virchow2 (Paige, MSK)","route":"/technologies/virchow/","status":"emerging","tldr":"A pathology foundation model trained on millions of slides that can detect cancer and predict biomarkers from an ordinary H&E slide."},{"id":"prov-gigapath","kind":"technology","name":"Prov-GigaPath (Microsoft, Providence)","route":"/technologies/prov-gigapath/","status":"emerging","tldr":"An open pathology model trained on 1.3 billion image tiles from a US health system, modelling whole slides at gigapixel scale."},{"id":"artera-ai-prostate","kind":"drug","name":"ArteraAI Prostate","route":"/drugs/artera-ai-prostate/","status":"approved","tldr":"The first AI tool cleared by the FDA to predict both prognosis and treatment benefit from a routine biopsy slide, in prostate cancer."},{"id":"artera-ai-breast","kind":"drug","name":"ArteraAI Breast","route":"/drugs/artera-ai-breast/","status":"approved","tldr":"An FDA-cleared AI test (May 2026) that reads breast cancer slides to estimate recurrence risk in early hormone-positive disease."},{"id":"masai","kind":"trial","name":"MASAI (Mammography Screening with Artificial Intelligence)","route":"/trials/masai/","status":"positive","tldr":"The first randomised trial of AI in breast screening found more cancers and cut radiologists' reading work almost in half without more false alarms."},{"id":"musk","kind":"technology","name":"MUSK (Stanford, vision-language pathology)","route":"/technologies/musk/","status":"emerging","tldr":"A model that reads slides and clinical text together to predict who will respond to immunotherapy."}],"trials":[{"id":"masai","name":"MASAI (Mammography Screening with Artificial Intelligence)","route":"/trials/masai/","outcomes":[{"endpoint":"Cancer detection rate (interim analysis)","unit":"per 1,000 screened","arms":[{"name":"AI-supported screening","n":39996,"value":6.1},{"name":"Standard double reading","n":40024,"value":5.1}],"source":"https://doi.org/10.1016/S1470-2045(23)00298-X"}],"setting":"Population screening in Sweden: AI-supported reading (Transpara, single or double reading by risk score) versus standard double reading","enrolled":105934,"enrolledNote":"ClinicalTrials.gov lists 100,000 participants (actual); the Lancet 2026 interval-cancer analysis reports 105,934 women randomly assigned between April 2021 and December 2022.","enrolledBasis":"randomised"}],"papers":[]},{"era":"2027-2032","title":"Spatial, single-cell and protein layers guide the choice","description":"Genotype explains which drug could work; architecture and phenotype may explain which one will. Spatial and single-cell profiling map where immune cells sit relative to tumour cells, proteomics measures the drug's actual target, long-read sequencing resolves rearrangements and methylation together, and near-continuous ctDNA sampling turns monitoring into a running signal. Each is a research tool today; the work of this era is showing that any of them changes an outcome when used to choose treatment.","status":"emerging","refs":[{"id":"single-cell-spatial","kind":"technology","name":"Single-cell & spatial profiling","route":"/technologies/single-cell-spatial/","status":"emerging","tldr":"Reading the genes of each individual cell, and mapping where each cell sits in the tumour."},{"id":"spatial-omics-guided-therapy","kind":"technology","name":"Spatial-omics-guided treatment selection","route":"/technologies/spatial-omics-guided-therapy/","status":"emerging","tldr":"Choosing treatment from a map of where each cell type sits in the tumour, not just from a list of its mutations."},{"id":"spatial-biology-instruments","kind":"technology","name":"Spatial biology instruments","route":"/technologies/spatial-biology-instruments/","status":"emerging","tldr":"Spatial biology instruments are machines that map which genes and proteins are active in each part of a tumour slice."},{"id":"proteomics","kind":"technology","name":"Proteomics & phosphoproteomics","route":"/technologies/proteomics/","status":"emerging","tldr":"Measuring the proteins in a tumour, which is what drugs actually hit, rather than the genes that encode them."},{"id":"long-read-sequencing","kind":"technology","name":"Long-read sequencing (PacBio, Oxford Nanopore)","route":"/technologies/long-read-sequencing/","status":"established","tldr":"Long-read sequencing (PacBio HiFi, Oxford Nanopore) reads single DNA molecules in stretches of thousands of bases, so rearrangements, repeat expansions, gene fusions and methylation appear in one run where short-read machines miss them. Nanopore can classify a brain tumour during surgery in under an hour; throughput per dollar still trails the largest short-read instruments."},{"id":"continuous-ctdna-monitoring","kind":"technology","name":"Continuous and near-continuous ctDNA monitoring","route":"/technologies/continuous-ctdna-monitoring/","status":"concept","tldr":"Instead of testing blood every three months, sampling constantly, so a relapse is caught the week it starts."},{"id":"fragmentomics","kind":"technology","name":"cfDNA fragmentomics","route":"/technologies/fragmentomics/","status":"established","tldr":"Fragmentomics reads the sizes and positions of DNA fragments in blood, not the mutations. Cancer cells die messily and leave a recognisable fragmentation pattern."},{"id":"methylation-profiling","kind":"technology","name":"DNA methylation profiling","route":"/technologies/methylation-profiling/","status":"established","tldr":"Reading chemical tags on DNA that reveal a cell's identity, used to classify brain tumours and to detect cancer in blood."}],"trials":[],"papers":[]},{"era":"What sets the pace","title":"Validation, standardisation and payment","description":"Tests that decide who gets a drug are still often validated retrospectively, run differently in different laboratories, and paid for only when they add treatment rather than remove it. The fixes on the table: pre-registration of biomarker studies, a national platform every ctDNA-positive patient can join, coverage-with-evidence for residual disease tests, universal sequencing that feeds a shared learning system, and a clear regulatory status for laboratory-developed tests.","status":"current","refs":[{"id":"b-biomarker-validation","kind":"bottleneck","name":"Biomarkers are not validated or standardised","route":"/bottlenecks/b-biomarker-validation/","tldr":"Tests that decide who gets a drug are often not validated prospectively and are measured differently in every lab."},{"id":"b-dormancy-mrd","kind":"bottleneck","name":"Dormant cells and minimal residual disease","route":"/bottlenecks/b-dormancy-mrd/","tldr":"After a 'successful' treatment, cells can sleep for years then relapse. We can barely detect them and cannot target them."},{"id":"b-data-silos","kind":"bottleneck","name":"Data silos","route":"/bottlenecks/b-data-silos/","tldr":"Records, scans, genomes and outcomes sit in separate systems that cannot talk. Every patient's experience is lost to the next."},{"id":"b-tumor-heterogeneity","kind":"bottleneck","name":"Tumour heterogeneity and clonal evolution","route":"/bottlenecks/b-tumor-heterogeneity/","tldr":"Every tumour is a population of genetically distinct clones: in multi-region sequencing of kidney tumours, roughly two thirds of mutations were missing from at least one region. Treatment kills the dominant clones and leaves resistant minor clones to grow back, yet a single diagnostic biopsy is still treated as the whole disease."},{"id":"idea-tr2-biomarker-study-registry","kind":"idea","name":"Pre-register biomarker validation studies the way trials are registered","route":"/ideas/idea-tr2-biomarker-study-registry/","tldr":"Drug trials must be registered before they start so results cannot be hidden or reshaped. Studies that claim a biomarker predicts outcome should be registered too."},{"id":"idea-bio2-national-mrd-platform","kind":"idea","name":"A national platform trial that every ctDNA-positive patient can join","route":"/ideas/idea-bio2-national-mrd-platform/","tldr":"Blood tests can now find leftover cancer months before scans, but most patients who test positive have nothing to enrol in. One standing trial per country would fix that."},{"id":"idea-bio2-mrd-coverage-with-evidence","kind":"idea","name":"Pay for residual disease tests only inside a trial or registry","route":"/ideas/idea-bio2-mrd-coverage-with-evidence/","tldr":"Leftover-cancer blood tests are being sold faster than evidence that acting on them helps. Paying for them only when the result is recorded would generate the missing evidence."},{"id":"idea-moon-universal-sequencing-learning-system","kind":"idea","name":"Universal tumour and germline sequencing at diagnosis feeding a shared learning system","route":"/ideas/idea-moon-universal-sequencing-learning-system/","tldr":"Sequence every cancer at diagnosis, along with the patient's inherited genes, and pool the results with treatments and outcomes so every patient teaches the system how to treat the next."},{"id":"fda-ldt-rule","kind":"term","name":"FDA laboratory-developed test (LDT) rule","route":"/terms/fda-ldt-rule/","tldr":"Most cancer tests in the US, including Galleri, Signatera and Oncotype DX, are 'lab-developed tests' overseen through lab standards rather than FDA approval; the FDA's 2024 attempt to change that was struck down in court in 2025."},{"id":"reference-laboratories","kind":"technology","name":"Reference laboratories and companion-diagnostic testing","route":"/technologies/reference-laboratories/","status":"standard-of-care","tldr":"The big labs that run most biomarker tests, and the reagent makers whose stains decide who gets a drug."}],"trials":[],"papers":[]}],"watch":[]}