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How Has Lung Cancer Molecular Testing Evolved? from Patient Empowerment Network on Vimeo.
What are the latest advances in lung cancer testing? Dr. Thomas Marron discusses the role of molecular testing when choosing therapy and how innovations in technology have revolutionized lung cancer care.
Dr. Thomas Marron is Director of the Early Phase Trials Unit at the Tisch Cancer Institute at Mount Sinai Hospital. Dr. Marron is also Professor of Medicine and Professor of Immunology and Immunotherapy at the Icahn School of Medicine at Mount Sinai. Learn more about Dr. Marron.
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Katherine Banwell:
What should patients understand about the results of molecular testing?
Dr. Thomas Marron:
So, molecular testing is extremely important and anybody who has metastatic non-small cell lung cancer should get it. And increasingly, with the new drug approvals, even patients that have earlier stage disease, stage II and III disease should also get molecular testing. Molecular testing is important to identify if there is a potential therapeutic target.
But it’s also important to know that it may predict a response to a therapy, whether that be a targeted therapy or something like immunotherapy. But there is no guarantee. So, there’s no specific result from a molecular test that tells you there’s 100 percent chance you’re going to be cured by Drug X.
And so, it’s important to always know that we’re following the data and we’re giving patients the drugs that, based on the knowledge we have today is the best option for them, based on their molecular test. But it isn’t a guarantee. And sometimes these drugs will work transiently.
And so, they may work for weeks, months, year but then they might stop working. And it’s also important to understand that the mutational profile may change over time, which is one of the reasons why we do these genetic tests. Oftentimes multiple times. Not just at the time of diagnosis, but also when patients’ cancer starts to grow so that we can see if there’s a new molecular target that we might be able to identify and treat with a novel therapy.
Katherine Banwell:
Dr. Marron, are there innovations in technology that are aiding in the advancement of lung cancer research?
Dr. Thomas Marron:
Yeah, so there’s lots of developments in the molecular tests that we’re doing. One of them is that we’re able to track circulating tumor DNA. So, as cancer is growing, it grows in this very unorganized aberrant way, because the on and off growth switches within the cancer, within the DNA are very dysregulated. And what happens is that often times, they’re releasing a lot of cancer cells as they’re growing or also dying and releasing their DNA into the blood.
And so, through blood tests, we’re now able to identify the mutations in a patient’s cancer. And this is a real revolution in the initial diagnosis of metastatic lung cancer because in the past, we had to wait for three, four, five weeks in order to know whether a patient had a targetable mutation like an EGFR mutation. Or if we should use a more agnostic approach, immunotherapy or chemotherapy to treat the patient.
But now when I see a patient, typically I see lung cancer patients on Fridays, I will take some of their blood, I send it off for the liquid biopsy analysis. And by that following Friday, so just one week later, I typically have an answer of if the patient has a mutation that I can target, let’s say with an oral medicine or if they’re a patient that I should be treating with immunotherapy. Additionally, circulating tumor DNA, increasingly we can use it to identify or track a patient’s progress, as far as response to therapy.
And so, this has really been developed in other tumor types, but increasingly we’re using it in lung cancer where we can either track how much cancer they have in their body. So, very early on, we can see if the cancer is shrinking or growing. And additionally, we can use it to detect patients after surgery, whether or not they have residual disease in their body.
And so, a lot of the times patients will undergo surgery because let’s say on a CAT scan, you might only see one large, isolated tumor. But after we take that tumor out, now we can do a blood test to see if there might be microscopic bits of that cancer that were left over, that we weren’t able to see on a CAT scan or PET scan.
And it’s that patient population that we think benefits most from either chemotherapy or targeted therapy after surgery. So, we’re using circulating tumor DNA, both in the metastatic setting, where cancer has already spread to other parts of the body. And also, in the perioperative setting, around the time of surgery or radiation where we’re trying to cure patients. And we’re now able to use this technology to hopefully increase the likelihood that we’re curing them.
Tumor Genetics vs. Family Genetics in Lung Cancer: What is the Difference? from Patient Empowerment Network on Vimeo.
What do lung cancer patients need to know about genetic testing? Dr. Lecia Sequist explains the two types of genetic testing and how the test results are used to create optimal treatment plans for personalized care.
Dr. Sequist is program director of Cancer Early Detection & Diagnostics at Massachusetts General Hospital and also The Landry Family Professor of Medicine at Harvard Medical School.
“…if you’ve been diagnosed with cancer, you should talk to your doctor about whether you should get genetic testing, either of your cancer cells or of your familial genetic background. And sometimes the answer will be yes to both those. But know that there are two different types of genetic testing.”
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Lisa Hatfield:
Dr. Sequist, can you please explain what genetic testing is for cancer patients?
Dr. Lecia Sequist:
Yeah. This can be a really complicated area, so I’m so glad you asked me this question. I think genetic testing basically is looking at the genes. So inside each cell in our body, there are…there’s DNA, which is the genes, and the DNA is kind of like an instruction manual for your cells, and like any instruction manual it has different pages, it has different chapters and individual words. And when they’re doing genetic testing, they’re looking to see if any of those chapters or pages or words have a typo or maybe were deleted, sometimes a whole page or a whole chapter is deleted, or sometimes a chapter is picked out of where it’s supposed to go and shoved in another part of the book. And looking for these different kinds of mistakes or edits in the genes is what genetic testing does. But we can do genetic testing on different parts. When you’re talking about a patient who has cancer, there’s basically two different areas that can be tested genetically. One is the patient’s healthy body, the genes they were born with, that they inherited from their parents, that they’ve had their whole life or they could pass on to their children if they have children. And so that type of genetics is called the germline genetics, but it basically is the type of genes you can get from your parents or pass on to your children.
If you have been diagnosed with cancer, there’s a separate set of DNA, set of genetic testing, which is done on the cancer cells. And a lot of times those genes have not been with you your whole life, they just came up at the time that the first cancer cell appeared in your body. And they may be different than the germline genes you inherited from your parents. And so depends on the type of cancer that you have, there are some types of cancer where it is very common to look at the germline cancer gene…sorry, the germline genes to see if you have a predisposition for cancer. This is done a lot of times in breast and ovarian cancer and sometimes with colon cancer, where we know there are genes that can run in families that can predispose people to getting cancer. And the reason that’s done, if you’re diagnosed with cancer and they wanna check your familial genes, it’s because they wanna know if other people in your family might be at risk for the same type of cancer. Does this have implications for how your sister should be treated medically or your child?
Separately for lung cancer, for example, which I treat, we’re usually doing genetic testing on the cancer, and we’re looking at what’s making that cancer cell tick. Are there treatments, are there different drugs or therapies that we can give that will kill the cancer based on the genes that are in the cancer? And so that tumor cancer genetic testing is often called genotyping or it’s testing the somatic, which just means the cancer cells, the somatic genetic testing. But it’s complicated, and I think people, rightfully so, get confused about all these different types of genetic testing. I guess my activation tip for this question would be, if you’ve been diagnosed with cancer, you should talk to your doctor about whether you should get genetic testing, either of your cancer cells or of your familial genetic background. And sometimes the answer will be yes to both those. But know that there are two different types of genetic testing.
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Confusion to Clarity: Expert Explains the Importance of NSCLC Mutations from Patient Empowerment Network on Vimeo.
What are some key lung cancer concepts that patients can learn about? Dr. Lecia Sequist explains lung cancer versus metastatic lung cancer and additional terms that can be helpful for patients to educate themselves about for empowered care.
Dr. Sequist is program director of Cancer Early Detection & Diagnostics at Massachusetts General Hospital and also The Landry Family Professor of Medicine at Harvard Medical School.
“…you’re not alone. The terms are confusing. A lot of people get lost in the terminology, the medical terminology. Don’t be afraid to ask questions or go to a website that is recommended, that’s been vetted by doctors to really have good quality information to help you understand what these terms mean.”
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Lisa Hatfield:
Dr. Sequist, we know that cancer isn’t just one disease. There are different types of cancer and even within one type of cancer, there are many different mutations that can occur within those cancer cells. Can you speak to some of those mutations with non-small cell lung cancer?
Dr. Lecia Sequist:
Yeah. Cancer is really complicated, and it gets confusing, for both doctors and patients. We usually call a cancer by the organ that it started in. So if the cancer starts in the lung, it’s usually called lung cancer. And it gets confusing because if the cancer spreads to another part of the body, it’s still considered lung cancer. So if someone started with a cancer in their lung, but it’s spread to their bones, the doctors would usually call it metastatic lung cancer that went to the bones as opposed to, I think a lot of people think of that as, now I have bone cancer. And so it can be very confusing. In addition to the broad type of cancer, like lung cancer, there are subtypes and then there are genetic subtypes. So there’s a lot of terms that get thrown out. And sometimes learning that you have cancer and learning about it, it’s almost like learning a foreign language. There’s so many terms that you have to first learn what the terms mean.
So I think my activation tip for this question would be, you’re not alone. The terms are confusing. A lot of people get lost in the terminology, the medical terminology. Don’t be afraid to ask questions or go to a website that is recommended, that’s been vetted by doctors to really have good quality information to help you understand what these terms mean. There’s also a lot of misinformation on the websites, that’s why you have to go to a site that maybe your doctor or your patient network recommends to make sure you’re getting accurate information. But the terms can be confusing. But it’s important to understand what you’ve been diagnosed with, so you can understand what your options are.
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