Next-Generation Sequencing & Glioma Treatment
- Next-generation sequencing, or molecular profiling, allows scientists and doctors to take a detailed look at the genetic material (DNA and RNA) in tumor cells, offering insight into which glioma treatment approaches may work the best.
- “I recommend next-generation sequencing, molecular profiling, for all of my patients. I believe this is a must-have. This is the next frontier of treatment that we’re looking at now,” Dr. Ashley Ghiaseddin, a neuro-oncologist at University of Florida Health, tells SurvivorNet.
- NGS creates a comprehensive map of the tumor’s genetic profile, highlighting any mutations, deletions, or alterations that might be contributing to its growth.
- With NGS, patients can get a more precise diagnosis and personalized treatment plan, better access to clinical trials, and more.
“I recommend next-generation sequencing, molecular profiling, for all of my patients. I believe this is a must-have. This is the next frontier of treatment that we’re looking at now,” Dr. Ashley Ghiaseddin, a neuro-oncologist at University of Florida Health, tells SurvivorNet.
What is Next-Generation Sequencing (NGS)?
Read MoreHow is NGS Used in Glioma Treatment?
Next-generation sequencing is important for patients with gliomas for multiple reasons.
- It Helps With Precise Diagnoses: Gliomas are a diverse group of tumors, and they are classified based on their grade (how aggressive they are) and molecular features. Traditional diagnostic methods, like looking at tumor cells under a microscope, are important but have limitations. NGS provides additional molecular-level information that can refine the diagnosis. For example, certain mutations, like those in the IDH1 or IDH2 genes, can distinguish between different types of gliomas and provide clues about how aggressive a tumor might be.
- It Helps Personalize Treatment Plans: One of the most exciting aspects of NGS is its ability to tailor treatments to individual patients. By identifying specific mutations or genetic changes in the tumor, doctors can determine which treatments are most likely to work. For example: If NGS detects mutations in the MGMT gene promoter, it might indicate that the tumor will respond better to chemotherapy with a drug called temozolomide.
- Improves Access to Clinical Trials: Glioma patients often seek new and promising treatments, especially when standard options are limited. NGS can identify genetic changes that match the eligibility criteria for clinical trials. For example, if a trial is testing a drug targeting a rare mutation, NGS can reveal whether a patient’s tumor has that mutation, opening the door to experimental therapies.
- It Helps With Monitoring Disease Progression: NGS isn’t just used at the time of diagnosis. It can also track how a tumor evolves over time. Tumors can change in response to treatment, sometimes developing new mutations that make them resistant to therapy. By repeating NGS at different points in care, doctors can adjust treatment plans to stay one step ahead of the disease.
What Results are Looked At?
The information provided by NGS can be extensive, but some of the key results that doctors focus on include:
- Gene Mutations: Mutations are changes in the DNA sequence. Some mutations are “drivers,” meaning they play a key role in tumor growth. For gliomas, mutations in genes like IDH1, IDH2, TP53, and EGFR are particularly important.
- Chromosomal Changes: Chromosomes are structures that organize DNA. Gliomas often show specific chromosomal abnormalities, like the co-deletion of chromosomes 1p and 19q, which is associated with a better response to certain treatments and a more favorable prognosis.
- Gene Expression Patterns: In addition to DNA, NGS can analyze RNA, which reflects which genes are actively being used by the tumor. This can provide clues about the tumor’s behavior and potential vulnerabilities.
- Tumor Mutational Burden (TMB): TMB measures the total number of mutations in the tumor’s DNA. Tumors with a high TMB might respond better to immunotherapy, a type of treatment that harnesses the immune system to fight cancer.
- Actionable Targets: One of the main goals of NGS is to identify “actionable” genetic changes—those for which targeted treatments exist or are being developed. For example, mutations in the BRAF gene can sometimes be treated with drugs that specifically target the altered BRAF protein.
What Does This Mean for Patients?
For patients with gliomas, NGS offers hope by providing a more personalized approach to care. It helps ensure that treatments are selected based on the unique characteristics of their tumor, increasing the likelihood of success. Additionally, the detailed genetic information can help patients and their care teams make more informed decisions, including whether to pursue experimental therapies through clinical trials.
It’s important to note that NGS isn’t always covered by insurance, and the results don’t always point to a clear treatment option. However, the technology is becoming more accessible, and its potential benefits often outweigh these challenges. Patients should discuss with their medical team whether NGS is appropriate for their specific situation.
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