What should you know about next generation sequencing technologies?

Sequencing reads the order of genetic material from a prepared sample. A test may focus on selected genes, a wider panel, or another defined set of targets. It can look for changes in DNA and, in some settings, RNA. The laboratory then compares the findings with reference information and creates a report for the clinical team.

The result may be relevant to a tumour, inherited health, or reproductive planning. A finding linked to tumour cells is not automatically an inherited condition. A result can also be negative, unclear, or limited by the quality and amount of the sample. These limits are part of the interpretation, not evidence that a person caused the result.

Before testing, ask what question the clinician is investigating, which sample will be used, and whether the analysis includes inherited findings. Ask how incidental findings are handled and who can explain the report. If a result may affect relatives, genetic counselling can help place it in family context.

For cancer care, the report may be reviewed with biopsy findings, imaging, and the treatment plan. A genomic tumour profiling test can be one part of this process. For other purposes, ask how results relate to genetic carrier screening, pre-marital screening, PGT-A, PGT-M, or NIPT. Read more about [Next-Generation Sequencing](/technology/next-generation-sequencing/).

Contact your clinician when a report contains an uncertain finding, recommends follow-up, or says the sample was inadequate. Seek urgent care for sudden neurological changes, severe breathlessness, chest pain, or fainting. A sequencing report does not replace assessment of new or worsening symptoms.

Which genetic targets were included? What does this result mean for my specific diagnosis? Could the finding be inherited or limited to tumour cells? Is confirmation or family testing needed? What action, if any, follows from this report?