What is genomic (molecular) testing?
Genomic testing reads the DNA of your tumour to find the specific faults — mutations, fusions, amplifications — that drive its growth. Modern labs use next-generation sequencing (NGS): one test that checks hundreds of cancer-related genes at once from a biopsy sample, or sometimes from blood (a “liquid biopsy”).
Why it matters: the word “targetable”
Some genetic faults have a drug designed against them. When your report says a finding is actionable or targetable, it means: a therapy exists that attacks this exact fault — sometimes approved for your cancer, sometimes approved in another cancer, sometimes available in a clinical trial. In our own published research, identifying such faults early — and acting on them early — was one of the strongest levers in the entire treatment journey.
How to read the report
- Pathogenic variant — a fault known to contribute to cancer. This is the meaningful category.
- VUS (variant of unknown significance) — a change nobody can yet interpret. Common, and usually not a reason to act or to worry.
- TMB / MSI — measures of how mutated or repair-broken the tumour is overall; high values can predict benefit from immunotherapy.
- Tier / evidence level — how strong the drug-fault match is (approved in your cancer → approved elsewhere → trial-stage).
The questions worth asking your oncologist
- Has my tumour had NGS testing? If not, would it change anything if we did?
- Did anything come back targetable — and is the matched drug, or a trial of it, available to me?
- If my cancer progresses, will we re-test? (Cancers evolve; the fault that drives a relapse can differ from the original.)
Frequently asked questions
Is genomic testing the same as an inherited-cancer (BRCA-style) test? No. Tumour testing reads the cancer’s DNA; hereditary testing reads yours. Reports sometimes flag findings that warrant both — ask which kind you had.
My report is 20 pages of jargon — now what? Attach it to a ticket. Translating NGS reports into plain language, and mapping each finding to its evidence, is the core of what our desk does.