Next-Generation Sequencing in Cancer Care


Cancer teams can decode and analyze DNA from a patient’s tumor to diagnose the disease, determine personalized treatment plans and assess the response to treatment.

Next-generation sequencing (NGS), also known as high-throughput sequencing, is a technology used to decode and analyze DNA or RNA. It has emerged as a transformative tool in cancer care, revolutionizing how doctors understand, diagnose and manage the disease.

With NGS, cancer teams are able to analyze the genetic information of tumor cells via a tissue biopsy or liquid biopsy (from blood, urine or another body fluid). Once sequenced and analyzed, this information can be used in several ways throughout a patient’s cancer journey.

Diagnosis and Classification

NGS plays a crucial role in identifying and classifying different types of cancer. By analyzing the genetic material within a patient’s tumor, NGS helps doctors pinpoint the specific genetic mutations or alterations that are driving the cancer’s growth. This information is vital in determining the exact type of cancer a patient has, which guides treatment decisions.

Personalized Treatment Plans

Cancer is a highly heterogeneous disease, meaning it can differ greatly from person to person. NGS enables doctors to create personalized treatment plans tailored to the genetic makeup of each patient’s tumor. This precision medicine approach allows for the selection of targeted therapies that are more likely to be effective against the specific genetic abnormalities present in the cancer cells.

Targeted Therapy Selection

NGS identifies genetic mutations that can be targeted with specific drugs. For instance, if a patient’s tumor has a mutation that makes it susceptible to a particular targeted therapy, NGS can guide doctors in choosing that treatment. This approach minimizes trial and error, increasing the chances of a successful response while reducing unnecessary side effects.

Monitoring Treatment Response

During the course of treatment, NGS can be used to monitor the tumor’s genetic changes. If new mutations or alterations emerge, doctors can adjust the treatment plan accordingly. This real-time monitoring helps ensure that the chosen therapy remains effective and provides insights into any potential drug resistance.

Predicting Disease Progression

NGS can provide insights into the likelihood of a patient’s cancer spreading or recurring. By analyzing specific genetic markers, doctors can better predict the course of the disease and make informed decisions about long-term treatment strategies.

Research and Clinical Trials

NGS contributes to cancer research by providing a wealth of genetic data that scientists can analyze to uncover new insights into the disease’s mechanisms. Additionally, patients with cancer may have the opportunity to participate in clinical trials for experimental treatments based on their genetic profile, potentially expanding their access to cutting-edge therapies.

Early Detection and Risk Assessment

NGS can also be employed for early detection and risk assessment. By analyzing a patient’s genetic predisposition, doctors can identify individuals who are at higher risk of developing certain types of cancer. This knowledge allows for enhanced surveillance and preventive measures.

Hereditary Cancer Syndromes

In cases where cancer seems to run in families, NGS can be used to identify hereditary cancer syndromes caused by specific gene mutations. This information helps guide not only the patient’s treatment but also the screening and management of family members who may be at risk.

In essence, NGS is a powerful tool that empowers patients with personalized, targeted and informed cancer care. It opens new avenues for treatment, enhances treatment effectiveness and contributes to the ongoing advancement of cancer research and treatment options.

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Dr. Kelly Stratton
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