Diagnostics & Biomarkers

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

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.

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.

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

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 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.

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

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

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 blood test that reads fragments of DNA shed by the tumour, so you can genotype or monitor cancer without a needle in the tumour.

Reading DNA in very long stretches, which reveals rearrangements and methylation that short-read machines miss.

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

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

Regular meetings where surgeons, oncologists, radiologists, pathologists and others review each patient's case together and agree a plan; mandatory in many countries and associated with more guideline-concordant care.

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

An MRI before biopsy that finds the cancers that matter and lets many men skip biopsy altogether.

Challengers to Illumina promising cheaper genomes, which matters for making tumour sequencing routine.

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.

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.

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 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.

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.

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

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

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.

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.