Is genomic tumour profiling done with next-generation sequencing?

The laboratory may use DNA or RNA from a tumour biopsy, stored tissue, or sometimes a blood sample. Next-generation sequencing reads selected genetic material and looks for changes that may help classify the cancer or identify treatment options. The panel differs between laboratories and cancer types, so the report may examine genes, fusions, or other markers rather than every gene in the body.

A result can identify a change, find no actionable change, or be unclear. It does not replace the pathology diagnosis, scans, or clinical assessment. A genetic finding in a tumour is also different from an inherited change that can affect relatives.

Ask your oncology team whether profiling is suitable for your tumour, which sample will be used, and how the result could change treatment. Confirm whether the sample is adequate and whether a blood draw or new biopsy is needed. Request an explanation of findings in plain language, including results that are uncertain or do not match the wider clinical picture.

If the report raises a possible inherited finding, ask whether genetic counselling is appropriate before discussing family testing. Keep a copy of the report with your oncology records.

The sequencing process itself is usually a laboratory test, but contact your team promptly after a biopsy or blood draw for persistent bleeding, increasing swelling, fever, severe pain, or faintness. Seek urgent help for heavy bleeding, collapse, severe breathlessness, or confusion. Do not delay urgent cancer care while waiting for a profiling result unless your specialist specifically advises this.

Ask: What decision could this test inform? Which sample will be tested? When should I expect the report? What will an uncertain result mean? Could a result suggest inherited risk, and who will explain that?