Introduction to Next-Generation Sequencing

Introduction to Next Generation Sequencing (NGS) in Oncology
A cutting-edge technology that has transformed the field of
oncology by enabling the detailedanalysis of cancer at the genetic level.
By sequencing DNA and/or RNA from cancer cells, NGS allows doctors to identify specific mutations and alterations
that drive the growth and spread of cancer.
This information can guide personalized treatment decisions, such as selecting targeted therapies or immunotherapies that are most likely to be effective based on the genetic profile of a patient’s tumour.
NGS provides a comprehensive understanding of the genetic landscape of cancer, helping to uncover why a particular cancer behaves the way it does and how it might respond to different treatments.
This technology plays a crucial role in precision oncology, where treatments are tailored to the unique genetic characteristics of each patient’s cancer.
How do NGS results influence treatment decisions?
NGS results can help your oncologist decide which treatments are most likely to work for your cancer. For example, if your cancer has a specific mutation that can be targeted by an available drug, your doctor might recommend that therapy. Additionally, NGS can identify mutations that may make a cancer resistant to certain treatments, allowing your care team to avoid ineffective options.
Are there any risks or limitations associated with NGS in oncology?
While NGS is a powerful tool, it does have some limitations. Not all genetic alterations detected by NGS are well understood, and some may not have available targeted treatments. Additionally, NGS may not detect all genetic changes, particularly those that occur at very low levels or in regions of the genome that are difficult to sequence.
Is NGS covered by insurance for cancer patients?
Coverage for NGS testing varies by insurance provider and depends on the type of cancer, the specific test, and whether the test is deemed medically necessary. Some tests may be fully covered, while others may require prior authorization or have out-of-pocket costs. It’s important to discuss coverage with your healthcare provider and insurance company.
What can NGS reveal about my cancer?
NGS can reveal specific genetic mutations, amplifications, deletions, or rearrangements in cancer-related genes. This information helps in understanding the molecular drivers of the cancer, predicting its behaviour, and identifying potential treatment options that target those specific genetic alterations.
How long does it take to receive NGS results?
The time it takes to receive NGS results can vary but typically ranges from three to five days. The turnaround time(TAT) depends on the type of NGS test being performed and the laboratory processing the sample. In urgent cases, a newer type of NGS, called turnkey NGS allows for ultrarapid TAT of almost 48 hours in urgent cases.
Are NGS results accurate?
Yes, NGS is highly accurate and sensitive, capable of detecting even low-frequency mutations within a tumour. However, the interpretation of results requires careful analysis by a healthcare provider, as not all detected mutations are necessarily relevant to treatment.
How is a sample collected for NGS testing in cancer?
Samples for NGS testing are usually collected from a tumour biopsy, which involves removing a small piece of the tumour tissue or resecting a diseased organ. In some cases, NGS can also be performed on a blood sample, known as liquid biopsy, which analyses circulating tumour DNA (ctDNA) in the blood.
Frequently Asked Question (FAQ)
NGS is a sequencing technology that allows for the
rapid and comprehensive analysis of a cancer’s genetic
makeup. In oncology, NGS is used to identify mutations,
gene fusions, and other genetic alterations in cancer
cells, providing insights into the tumour’s biology and
helping guide personalized treatment strategies.
NGS helps by identifying genetic mutations and
alterations that are specific to a patient’s cancer. This
information can be used to select targeted therapies
that are designed to attack cancer cells with specific
genetic changes. It can also help identify eligibility for
clinical trials or guide the use of immunotherapies,
making treatment more precise and personalized.
NGS can be used for a wide range of cancers, including
but not limited to breast, lung, colon, melanoma, and
hematologic cancers like leukaemia and lymphoma. It is
especially useful for cancers where targeted therapies
are available or when the cancer is of unknown primary
origin.