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.
Comprehensive genomic profiling
What it involves
Mutations, insertions and deletions, copy-number changes, selected fusions and signatures such as tumour mutational burden or microsatellite instability, depending on the assay.
Adequate, well-preserved tumour tissue is usually needed. Sample quality and tumour content influence whether a test can be completed and reported.
Advanced or metastatic disease, cancers where targeted options are established, cancer of unknown primary, unusual presentations, or when standard options are exhausted.
Reporting takes time, and the treatment plan may need to proceed on clinical grounds while results are awaited.
Findings may point to approved targeted options, trial-relevant alterations, prognostic information, or nothing currently actionable.
It does not diagnose cancer, does not predict response with certainty, and does not replace pathology, imaging or clinical assessment.
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.
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