Diagnostics & Biomarkers

For low-risk prostate cancer, monitoring with PSA, MRI, and repeat biopsy instead of treating, because most such cancers never cause harm.

In testicular and other germ cell cancers three blood tests, AFP, beta-hCG and LDH, are part of the staging itself: their levels after surgery sort patients into good, intermediate and poor risk groups that fix how many cycles of chemotherapy they get, and their return to normal defines cure.

Software that reads digitised biopsy slides to detect cancer, grade it, and score biomarkers such as HER2, PD-L1 and Ki-67 more consistently than the eye alone.

Anxiety around a scan has been measured in 57 studies using 81 different instruments, which is why reported rates run from 13 to 83 per cent; moderate to severe anxiety was reported by 4 to 28 per cent. Scanning more often does not lengthen life in breast cancer or in one common lymphoma, and in bowel cancer it found more curable recurrences but no fewer deaths.

A lab test that measures how close a leukaemia cell is to self-destructing, and which survival protein is holding it back, to predict response to venetoclax-type drugs.

Freezers full of consented tumour samples with matched clinical data, which every biomarker and drug programme depends on.

A urine test from the Israeli company Nucleix that reads fifteen DNA methylation markers and gives a score for bladder cancer recurrence, aimed at sparing patients under surveillance some of their camera examinations.

Smelling cancer: measuring the trace chemicals a tumour puts into exhaled breath.

Curated databases that say what each mutation means for treatment, and the expert meetings that use them to decide on therapy.

A camera the size of a large vitamin pill that the patient swallows; it photographs the whole small intestine, which ordinary endoscopes cannot reach, and newer versions look at the colon as an alternative to colonoscopy for people who cannot or will not have one.

Carcinoembryonic antigen is measured every few months for five years after bowel cancer surgery because a rising level often precedes visible recurrence; the trial that tested this found it catches more recurrences that can be operated on, though a survival benefit has not been shown.

Blood tests that read chemical marks on fragments of DNA shed by tumours; the marks tell cancer DNA from normal DNA and hint at where the cancer is.

The only regulator-cleared blood test that counts whole cancer cells; five or more cells in a small tube of blood marks a worse outlook in metastatic breast, prostate and bowel cancer, though changing treatment on the count alone has not helped patients.

Fragmentomics reads the sizes and positions of DNA fragments in blood, not the mutations. Cancer cells die messily and leave a recognisable fragmentation pattern.

Fishing whole cancer cells out of a blood sample to count them or study them; the count is prognostic in breast, prostate and colorectal cancer.

A blood test that detects fragments of the virus DNA shed by HPV-positive throat cancers, to confirm diagnosis, track response, and catch recurrence early.

Software that turns raw sequencer output into a report of which mutations matter and which drugs they point to.

The magnifying camera a gynaecologist uses to examine the cervix after an abnormal smear or HPV test, and the new portable and smartphone versions with software that scores the picture, built for clinics with no specialist in reach.

The test that decides whether a specific drug is right for you, approved together with the drug.

Sequencing hundreds of cancer genes at once from a biopsy to find the mutations a drug can target.

Instead of testing blood every three months, sampling constantly, so a relapse is caught the week it starts.

A blood test that tracks lymphoma DNA far below what a PET scan can see, so doctors can tell early who is cured and who will relapse.

Cystoscopy and TURBT mean looking inside the bladder with a camera and shaving off tumours through the urethra. Blue-light dyes make flat tumours easier to see.

Looking at the leukaemia's chromosomes under a microscope, or lighting up specific gene breaks with fluorescent probes, to classify risk.

Scanning microscope slides and letting software measure things a pathologist cannot see, including predictions of who will benefit from a treatment.

Reading chemical tags on DNA that reveal a cell's identity, used to classify brain tumours and to detect cancer in blood.

A one-off blood test done before fluorouracil or capecitabine that finds the roughly one in twenty-five people who cannot break the drug down; halving their dose prevents severe and occasionally fatal toxicity without losing effect.

Two upgrades to the ordinary ultrasound machine: elastography measures how stiff a lump is (cancers are usually hard), and microbubble contrast shows how blood flows through it in real time, with no radiation and no kidney-toxic dye.

Endoscopes with an ultrasound probe on the tip, passed down the gullet or windpipe, that see through the wall of the gut or airway to stage tumours and guide a needle into lymph nodes and the pancreas without an operation.

Blood cancer cells taken from a patient's blood or marrow are exposed within days to a panel of approved drugs, and the ones that kill the cancer cells while sparing healthy ones are offered back to the patient; a Vienna trial found this beat the previous treatment in more than half of heavily treated patients.

A machine that streams cells one at a time past lasers and reads the fluorescent tags stuck to each one, counting tens of thousands of cells a second. It is how leukaemias and lymphomas are typed, how residual disease is measured after treatment, and how cell therapies are checked before infusion.

Growing a patient's own cancer cells in a dish and testing drugs on them directly, instead of guessing from genetics.

An eight-question screen taking under five minutes, covering appetite, weight loss, mobility, mood, medicines, self-rated health and age, that flags which older cancer patients need a full geriatric assessment before treatment is decided.

Tests that measure a set of genes in a removed tumour to estimate how likely it is to come back, so patients with low scores can safely skip chemotherapy.

A test of the DNA you were born with, to find inherited risk genes such as BRCA or Lynch syndrome.

Ultrasound probes the size of a phone that plug into a tablet, costing a few thousand pounds rather than tens of thousands, so a clinic nurse or district doctor can check a breast lump, a swollen neck node or a liver without sending the patient to a city hospital.

Histology automation is the robots that process tissue into slides and stain them for biomarkers such as HER2 and PD-L1, the same way every time.

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.

A swab tested for the virus that causes cervical cancer, more accurate than the Pap smear and doable at home.

Tests that reveal whether a tumour has a broken DNA repair system, which predicts response to PARP inhibitors and platinum.

A family of sequencing scores that read the scars a broken DNA repair system leaves across a tumour's genome; a high score qualifies ovarian cancer patients for PARP inhibitor maintenance even without a BRCA mutation.

A way to stain a tumour slice for dozens of proteins at once using metal-tagged antibodies read by a mass spectrometer, giving a detailed map of which cells are where.

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.

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.

A test that reads the methylation pattern of a brain tumour's DNA and matches it to a reference library, giving a more reliable diagnosis than the microscope alone.

The brain tumour methylation classifier's sibling for sarcomas: a genome-wide methylation array read by a machine-learning model that assigns a bone or soft tissue tumour to one of more than sixty classes, useful when the microscope cannot decide.

An ultra-sensitive blood test after surgery that detects leftover cancer months before a scan would.

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.

A single blood test intended to screen for dozens of cancers at once, including ones with no screening today.

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.

Flow cytometry MRD counts leukaemia cells in the bone marrow one at a time by their surface proteins, down to one in ten thousand.

Multiparametric prostate MRI combines three scan sequences, scored 1 to 5 under PI-RADS, and is done before a first biopsy in men with a raised PSA. Needles go to suspicious areas and men with a negative scan can often avoid biopsy altogether, but about one in ten clinically significant cancers is missed.

Staining one tumour slide for several proteins in different colours, then using software to count immune and cancer cells and measure how close they are.

A home stool test that reads RNA from cells shed by the bowel lining together with a haemoglobin test; approved in the United States in 2024 as an alternative to stool DNA tests for average-risk screening from age 45.

New short-read sequencing platforms from Ultima Genomics, Element Biosciences, Roche and MGI compete with Illumina by cutting the cost per gigabase, with Ultima claiming a genome under 100 dollars. Cheaper reads make whole-genome tumour-normal sequencing and deep ctDNA testing affordable in principle, but clinical assays must be revalidated and Illumina's installed base still dominates.

Sequencing the unique genetic barcode of a patient's leukaemia to find one cancer cell in a million.

Databases built from millions of real patient records, used to see how treatments work outside trials and to run studies without new trials.

Organoid-guided therapy means routinely growing a piece of each patient's tumour and testing drugs on it before choosing, rather than relying on genetics alone.

A microfluidic cassette that traps cancer cells from blood by their size and stiffness rather than a surface marker, then releases them alive for testing; the first such device cleared in the United States, for metastatic breast cancer.

Growing a patient's pancreatic tumour as mini-organs in a dish and testing chemotherapies on them to pick the regimen most likely to work.

Testing a patient's inherited genes before certain chemotherapies to spot people who cannot break the drug down and would suffer severe, sometimes fatal, side effects.

The tubes and fixatives that keep a sample stable between the patient and the lab. Unglamorous, but they decide whether a liquid biopsy or PD-L1 stain is trustworthy.

Measuring the proteins in a tumour, which is what drugs actually hit, rather than the genes that encode them.

Machines that measure thousands of proteins at once from tissue or blood, used to find drug targets and early-detection markers.

The numbers pulled from scans that decide whether a cancer is shrinking, growing or dead: tumour diameters for RECIST, sugar uptake on PET, water movement on MRI; they run every trial and most clinic decisions, and they are only as good as the way the scan was taken.

A microscope test on an ordinary tumour biopsy that counts RAD51 repair spots in dividing cells; few spots means the tumour cannot repair DNA by homologous recombination right now, which is what PARP inhibitors exploit.

The big labs that run most biomarker tests, and the reagent makers whose stains decide who gets a drug.

Measuring which genes a tumour is actively using, which reveals its subtype and finds gene fusions.

A robot-guided flexible scope that reaches small lung nodules through the airways to biopsy them without a needle through the chest wall.

The classic cancer blood tests, each a protein or hormone that some tumours pour into the blood; they are excellent for following a known cancer and useless or harmful as general screening, because nearly all of them are raised by common benign conditions too.

Reading the genes of each individual cell, and mapping where each cell sits in the tumour.

Spatial biology instruments are machines that map which genes and proteins are active in each part of a tumour slice.

Methods that read which genes are switched on in each spot or cell of a tumour slice while keeping the tissue's geography, so scientists can see how cancer, immune and stromal cells sit next to one another.

Choosing treatment from a map of where each cell type sits in the tumour, not just from a list of its mutations.

STRIDE is a microscope test that lights up individual broken DNA strands inside cells, so a laboratory can count how much DNA damage a tumour carries or a drug causes, cell by cell.

Video visits, remote second opinions, and slides reviewed from afar, which let rural and low-resource patients reach specialists.

After the thyroid is removed for cancer, a blood protein it alone makes, thyroglobulin, should fall to nothing, so any measurable level in follow-up means cancer is still there; in medullary thyroid cancer the same job is done by calcitonin and CEA, whose doubling time forecasts how fast the disease will move.

Thyroid fine-needle aspiration takes a needle sample from a thyroid lump and grades it on a six-level scale; when the result is uncertain, a gene test on the same sample can often rule cancer out and avoid surgery.

Before children and adults with acute lymphoblastic leukaemia start two years of daily mercaptopurine, two genes are checked; carriers of low-activity variants need a fraction of the standard dose or their bone marrow shuts down within weeks.

Two routine blood tests, troponin for heart muscle injury and natriuretic peptides for heart strain, taken before and during heart-toxic cancer drugs so that damage is caught weeks or months before the heart's pumping falls on a scan.

Sequencing several parts of a tumour, or blood over time, to draw its family tree of mutations and see which branches drive relapse and resistance.

Counting how many mutations a tumour carries per stretch of DNA; heavily mutated tumours are more likely to respond to immunotherapy.

A gene test that finds people who clear irinotecan's active form slowly because of a common variant in the UGT1A1 enzyme, the same variant behind harmless Gilbert syndrome; they run a higher risk of severe diarrhoea and low white cells at full dose.

A family of tests on a urine sample that look for cancer cells or their DNA and RNA; none can yet replace a camera examination of the bladder, but the newer ones are good enough to let low-risk patients safely skip some of them.

A nurse paints the cervix with household-strength vinegar and looks with a torch: precancer turns white within a minute and can be frozen or heat-treated at the same visit, which is how cervical cancer deaths were cut by a third in Indian villages without a laboratory.

Reading all the genes (exome) or the entire DNA (genome) of a tumour, rather than a chosen panel.

The scanners that turn glass slides into gigapixel images, and the software that stores and serves them, without which pathology AI cannot run.