What to Expect with Next-Generation Sequencing
- Next-generation testing, a type of molecular testing, is increasingly being used to help make the right treatment plan for patients with cancer.
- This test analyzes a sample of the cancer cell to see how active certain genes are. The abnormality of the genes can cause mutations and promote lung cancer.
- The results help identify which patients with lung cancer are more likely to benefit from targeted therapy.
- The test is performed on tumor tissue that has already been collected to diagnose lung cancer. In certain situations, a doctor may also suggest getting a liquid biopsy.
With NGS testing now, even more patients with lung cancer can avoid chemotherapy. Using sophisticated molecular testing to make sure you get chemotherapy only if you need it. As a result, thousands of patients with lung cancer will now be spared the toxicity and side effects of chemotherapy due to the targeted therapy approach.
How Can NGS Help Determine Treatment?Read More
Why You Should Consider NGS TestingDr. Valsamo Anagnastou, a thoracic oncologist and leader of the Johns Hopkins Molecular Tumor Board at Sidney Kimmel Comprehensive Cancer Center, explains the benefits of NGS testing:
“We use molecular testing to determine if a mutation that we can target is present at the time of diagnosis and decide if targeted therapies are appropriate. And in addition to that, we can check whether your cancer has become resistant to a targeted therapy. Molecular testing can (also) guide the next therapy you will be receiving.”
What’s more, undergoing NGS testing can help you pursue a clinical trial of a new lung cancer drug before they’re made available to the public. Dr. Anagnastou is adamant that “Molecular testing should always be part of discussions between you and your healthcare team.”
Who Needs NGS Testing In Lung Cancer
About two-thirds of patients with advanced-stage lung cancer carry a potentially targetable mutation. That’s why it is highly recommended to use NGS testing at the time of your lung cancer diagnosis. You are qualified for NGS testing if you have advanced stage or metastatic non-small cell type of lung cancer.
“It’s definitely very important in patients that have advanced or metastatic non-small cell lung cancer in patients that have adenocarcinoma or non-squamous subtype of non-small cell lung cancer,” says Dr. Katherine Scilla a thoracic medical oncologist at the University of Maryland Greenebaum Comprehensive Cancer Center. “It’s considered standard of care to do this comprehensive testing at the time of diagnosis to decide on the best treatment for a patient,” Dr. Scilla continued.
How is NGS Testing Done?
The test is performed on a tumor tissue that has already been collected during tissue biopsy to diagnose your non-small cell lung cancer. This tissue is routinely saved and stored at the hospital. You usually will not have to go through any additional procedure to get the NGS testing.
“No additional testing is needed as long as there’s enough tumor tissue that had been collected at the time of the initial biopsy,” says Dr. Scilla.
“The first step in next-generation sequencing is to collect the sample that contains your DNA. This is typically a piece of your tumor tissue or a small blood draw,” explains Dr. Anagnastou. “What happens then, is your DNA is extracted from your sample in the lab, and it’s processed in the lab. We make copies of your DNA, we sequence it, and then we bioinformatically analyze the sequence data to determine whether the DNA in your cancer has any changes or differences that may be linked to targeted therapies,” Dr. Anagnastou continued.
In addition, your doctor may simultaneously ask for NGS testing on a liquid biopsy. A liquid biopsy is a blood test that analyzes circulating tumor DNA, or DNA from dead cancer cells circulating in your bloodstream.
How Long Will It Take to Get the Results?
Most results from the NGS testing on tissue biopsy are available within two to three weeks from the date the tumor sample is received by the laboratory.
A liquid biopsy is much faster and typically arrives within a week.
Both the results are sent to your oncologist so that they can discuss how they may guide your treatment.
What Can You Learn from NGS Test Results?
NGS testing allows for the identification of key driver mutations in lung cancer. Driver mutations are also known as actionable genomic alterations, which simply means it’s a mutation that there are targeted therapies available for.
Guidelines from the National Comprehensive Cancer Network (NCCN) recommend testing 9 specific biomarkers before initiating treatment for advanced lung cancer which include EGFR, ALK, ROS1, BRAF, KRAS, MET, HER2, RET, and NTRK.
Your doctor will match targeted treatments that are most likely to be effective based on your NGS mutation panel.
Is PD-L1 Testing Different From NGS Testing?
PD-L1 testing is different from NGS Testing. It measures the level of certain proteins in cancer cells. Dr. Anagnostou explains why this is important to test in lung cancer, too:
“This is called an immunohistochemistry (IHC). You don’t look at the gene. You don’t look at the mutation. You don’t look at the RNA. You look at the protein levels,” Dr. Valsamo explained.
“Increased levels of PD-L one in cancer cells may indicate a higher probability of response to cancer immunotherapy. As such, PD-L1 testing is part of molecular profiling when immunotherapy is considered,” Dr. Valsamo added.
If you’ve been diagnosed with lung cancer, both the NGS testing and PD-L1 test can help you and your doctor make a more informed decision about whether you will benefit from immunotherapy.
Will My Insurance Cover NGS Testing?
NGS testing is usually covered by the Medicare program and many other insurance companies. If you discover that your plan does not cover the comprehensive NGS testing, talk to your cancer team; They may be able to work with your insurance company to get the test approved for you.
Sometimes the company that runs the test may contact your insurance company on your behalf to waive the cost. There’s also the Next Generation Sequencing (NGS) Affordability Program to help lower your cost.
Types of NGS Testing On The Market
There are a number of tests you may encounter, depending on where you are getting treatment and what you are getting treatment for. Here are some of the common ones currently on the market:
- FoundationOne®CDx looks at 324 genes in solid tumors and says it can takes up to 12 days for results. Test results include microsatellite instability (MSI) and tumor mutational burden (TMB) to help inform immunotherapy decisions.
- OmniSeq Insight provides comprehensive genomic and immune profiling for all solid tumors. It looks for 523 different genes. Test results include microsatellite instability (MSI) and tumor mutational burden (TMB), as well as PD-L1 by immunohistochemistry (IHC).
- Cobas EGFR Mutation Test v2 identifies 42 mutations in exons 18, 19, 20 and 21 of the epidermal growth factor receptor (EGFR) gene. It is designed to test both tissue and plasma specimens with a single kit, and allows labs to run tissue and plasma on the same plate simultaneously.
You should ask your healthcare team if the brand of molecular testing they are doing is optimal for your cancer type.
Questions To Ask Your Doctor
- Will you run Next-generation sequencing both in the blood and in the tissue?
- Do I have any genetic mutation that would make me eligible for targeted therapy?
- Am I eligible to receive targeted therapy? What are the side effects?
- What’s the long-term outcome and prognosis based on my genetic mutation?
- Is there a clinical trial that would be relevant for me?