Next Gen Sequencing Applications: What to Know

The same sequencing approach can answer different clinical questions depending on the sample and the test design. In oncology, genomic tumour profiling looks for changes in tumour DNA that may help classify a cancer or identify treatment options for discussion. A breast cancer gene expression test examines activity patterns in tumour cells to support treatment planning in selected situations.

Other applications assess inherited information rather than tumour changes. Genetic carrier screening can identify whether someone carries certain inherited variants. PGT-A and PGT-M examine embryos during assisted reproduction for specific chromosome or gene concerns, while NIPT analyses placental DNA in a pregnant person's blood for selected screening questions. A screening result is not the same as a diagnosis.

Ask what the test is designed to detect, whether it examines inherited or tumour DNA, and what a result can and cannot change. Confirm which sample is needed, how results will be reported, and whether a genetics professional will explain findings. Results may include a finding whose meaning is uncertain, or a finding unrelated to the original question. Discuss family implications and privacy before testing if inherited information is included.

Contact the clinician who ordered testing if a report is difficult to understand, a laboratory requests another sample, or a result arrives without a follow-up appointment. Seek prompt medical help for new severe symptoms related to your underlying illness, such as trouble breathing, sudden weakness, uncontrolled bleeding, or rapidly worsening pain; sequencing itself does not assess emergencies.

Which genetic changes is this test looking for? Does it assess my tumour, inherited DNA, or both? What result would lead to another test or a treatment discussion? Could the result affect relatives or future pregnancies? Who will interpret the report with me?