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Comprehensive genomic profiling

Examining tumour biology in depth.

Comprehensive genomic profiling examines a large number of cancer-related genes in a single test. It is one input into treatment planning, valuable in some situations and unnecessary in others.

What it involves

What the test involves.

What is examined

Mutations, insertions and deletions, copy-number changes, selected fusions and signatures such as tumour mutational burden or microsatellite instability, depending on the assay.

Sample requirements

Adequate, well-preserved tumour tissue is usually needed. Sample quality and tumour content influence whether a test can be completed and reported.

When it is most useful

Advanced or metastatic disease, cancers where targeted options are established, cancer of unknown primary, unusual presentations, or when standard options are exhausted.

Turnaround and logistics

Reporting takes time, and the treatment plan may need to proceed on clinical grounds while results are awaited.

What results can show

Findings may point to approved targeted options, trial-relevant alterations, prognostic information, or nothing currently actionable.

Limits of the test

It does not diagnose cancer, does not predict response with certainty, and does not replace pathology, imaging or clinical assessment.

Clinical interpretation

Complex reports are best discussed in a Molecular Tumor Board before any change of treatment is considered.

Genomic profiling is recommended selectively, based on the clinical question. Findings are interpreted in context and do not by themselves establish that a treatment is suitable.

Find out whether genomic profiling is appropriate for you.

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