Tag Archive for: biomarker testing

Why Do Lung Cancer Patients Need Molecular Testing Before Choosing Treatment?

Why Do Lung Cancer Patients Need Molecular Testing Before Choosing Treatment? from Patient Empowerment Network on Vimeo.

How do a patient’s genetic mutations impact lung cancer treatment? Lung cancer specialist Dr. Estelamari Rodriguez emphasizes the importance of undergoing biomarker testing, also referred to as molecular testing, to identify genetic mutations, which may lead to a more personalized lung cancer therapy.

Dr. Estelamari Rodriguez is Associate Director of Community Outreach – Thoracic Oncology at the Sylvester Comprehensive Cancer Center, University of Miami Health System. Learn more about Dr. Rodriguez, here.

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Transcript:

Katherine Banwell:

What is molecular testing? 

Dr. Estelamari Rodriguez:

So, that is very critical for lung cancer patients today. So, molecular testing is when we get tumor cells, and we analyze the genetic changes that lead to that tumor growth. And that can be done today in different ways. The usual goal standard have been to do a biopsy of the tumor, and then do next generation sequencing when we analyze many, many genes that can impact cancer growth, and then we get a signature what drives that cancer. And in doing that, we discovered that some patients, for example, regardless of who they are, women or men, smokes or non-smokers, they may have a genetic driver that we have a treatment for, that does better than chemotherapy. 

So, that is important that you identify that as early as possible.  

Katherine Banwell:

Why is it necessary for patients to undergo molecular testing prior to a lung cancer treatment plan? 

Dr. Estelamari Rodriguez:

So, it is extremely critical because we have data today that several of these targeted treatments, the improvement of survival is not in the span of months, it’s in the span of years. 

People will do years better if they started with the treatment for their specific cancer driver mutation than if they received chemotherapy.  

We also saw that when immunotherapy came in the market a lot of patients, rightly so, doctors thought, “This is the best new thing, let’s put this patient on immunotherapy” and they were not testing patients for mutations before they started. And we found out two things, one is that there is toxicity if you give immunotherapy followed by some of the targeted therapies, specifically one called osimertinib (Tagrisso), so that you could cause harm.  

And then, number two, that immunotherapy doesn’t work in every case. A lot of patients with targeted driver mutations, they do better with a targeted treatment than they will do with chemotherapy and immunotherapy. So, I think it is important to define that early. We also now have approval for at least one targeted therapy after surgery. 

So, even patients that are early stage, which is not the majority of patients, but those patients also will get an improvement if they have an EGFR mutation specifically if they receive that targeted pill treatment after surgery. So, understanding the tumor is important so you can select the right treatment for the patient.  

Now, this is a dynamic thing, so tumors can evolve over time. So, there are many times that patients come to us for second opinions, and we actually recommend a repeat biopsy to understand the new genetic signature of that tumor because we may find a new option that was not there at the beginning. 

Where Do Clinical Trials Fit Into a Lung Cancer Treatment Plan?

Where Do Clinical Trials Fit Into a Lung Cancer Treatment Plan? from Patient Empowerment Network on Vimeo.

Clinical trial participation is essential to advancing cancer care options. Dr. Estelamari Rodriguez shares how clinical trials are providing lung cancer patients with more treatment approaches and discusses the safety protocols in place to protect patients.

Dr. Estelamari Rodriguez is Associate Director of Community Outreach – Thoracic Oncology at the Sylvester Comprehensive Cancer Center, University of Miami Health System. Learn more about Dr. Rodriguez, here.

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Transcript:

Katherine Banwell:

Dr. Rodriguez, research advances aren’t possible without patients participating in clinical trials. 

So, where do clinical trials actually fit into a lung cancer treatment plan? 

Dr. Estelamari Rodriguez:

So, clinical trials are really what move the science of all these developments that we saw at the oncology conference, the ASCO conference.  

So, it’s not until patients join trials that we can approve drugs. So, I think clinical trials are very important, so we move the science. But then, for specific patients in lung cancer, now that we’re moving all of our best therapies upfront, we run out of options faster than we did for some patients. So, it is important that A) that we have access to clinical trials, which if we look across the country many of our cancer patients don’t have either Phase I programs near them, they’re very difficult to get to, or very expensive to get to. 

So, we have to do a lot in terms of increasing access to clinical trials. 

But I think your specific question has to do where it comes in. I think if you have advanced lung cancer, where most patients today will not have a cure, clinical trials is at the center of things that should be considered from the get-go. Sometimes some of the drugs are what is called Phase I, that these are new drugs that we’re trying to find a dose, we don’t really understand the efficacy of the drugs. So, those trials are reserved for patients that have failed standard treatment. 

But then we have patients with very difficult situations that are progressing really fast that should join clinical trials. And I think that as we do more biomarker testing, we are learning a lot about the individual patient tumor.  

So, the promise of precision medicine is that you can actually find drugs for specific patients, and that’s what clinical trials that are called basket trials, where if you have a mutation regardless of your tissue of origin. So, for example, we have two large basket trials that we are enrolling patients, one called the TAPUR trial and the other one called MATCH.  

And MATCH is organized by the NCI and TAPUR by ASCO, and these trials if you find you have a biomarker analysis of next generation sequence, you find a specific mutation, you can actually see there’s a trial for this specific patient. So, the trials come in, I think they’re very critical to move the science, they’re very important for individual patients with rare mutations, but I think it’s upon us to make sure that these trials are available.   

Katherine Banwell:

What advice do you have for patients who may be hesitant to participate in a clinical trial? 

Dr. Estelamari Rodriguez:

So, I think you have to ask questions, I think that there’s a lot of misconceptions in different communities. So, we take care of a lot of Hispanic patients, and we have kind of really have to do a lot of education about what patients and patients family’s think about. Because sometimes I feel I have to convince the family members before I can get to really talk to the patient about the trials. 

But I think in the past, trials have been considered only experimental, and patients are used for science but not really getting a benefit. So, I think that’s the first misconception. When we open a trial at our cancer center, and I’m part of the experimental therapeutics’ unit, we are opening trials that we believe that that science will move and offer something in addition. So, I think, that is not because we want to do an experiment, it’s because we really want to offer this patient the latest, or something new, that could potentially offer them a better response than what we are achieving with our standard treatments. 

So, I think that’s the first misconception, that these are experiments on patients and patients don’t benefit. The whole point of the trial is to find better drugs and benefit.  

So, it’s been shown in multiple parts of the country and big cancer centers that patients that join clinical trials do better at the stage of their disease. And part of the reason that they do better is that instead of having one doctor that is making decisions, and they’re running out of options, and kind of coming up with ideas out of nowhere, when you join a Phase I clinical trial or an organized trial, you have at least 10 to 20 doctors that are looking at your case or reviewing your images. There’s a lot of check to make sure that you’re not getting unwanted toxicity and that the trial is stopped if you’re not getting a benefit. 

And this is important so that we don’t expose more patients to toxicity, but that’s another misconception that it’s not safe. And we’ll do our best to make sure that it’s safe. 

Understanding Biomarker Testing for Non-Small Cell Lung Cancer Treatment

Understanding Biomarker Testing for Non-Small Cell Lung Cancer Treatment from Patient Empowerment Network on Vimeo.

 Dr. David Carbone reviews how mutations found through biomarker testing – genetic analysis of the lung cancer – may affect non-small cell lung cancer therapy decisions.

Dr. David Carbone is a medical oncologist and professor of internal medicine at The Ohio State University. Dr. Carbone is also co-leader of the Translational Therapeutics Program at the OSUCCC – James, where serves as director of the Thoracic Oncology Center. Learn more about Dr. Carbone, here.

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Immunotherapy for Lung Cancer Treatment: What to Expect


Transcript:

Katherine:

Let’s talk about biomarker testing. What is it, first of all, and what are you looking for, exactly, when you receive the results?

Dr. Carbone:

Well, you have to order the results, so you have to know what to order. And we already touched on it a little bit. The genetic analysis of a tumor has become central to picking a therapy. And when I say “genetic analysis,” that is what you’re referring to as one of the biomarker tests we use.

Unfortunately, it’s true that many patients have therapies started without waiting for the results of these biomarker tests, and that really can have a negative impact on their care, because the results of this testing can make the difference between chemotherapy or a pill. It’s a totally diametrically different therapy.

So, these genetic tests look for things that we call driver mutations, and these are alterations in the genes of your cancer that are not present in the rest of your body; they’re not passed down to your children, or need to get looked for in your brother or your sister, like some of the breast cancer mutations you may hear about.

These are mutations that are present in the tumor that act like light switches, and they turn the cancer on to grow like crazy.

And through scientific research, we’ve discovered many of these in lung cancer, where, if we can find the specific driver mutation, many of these have specific drugs that can turn that switch back off. And virtually 100 percent or very close to every patient where we can find that matching drug to their driver will have some tumor shrinkage.

And it’s quite remarkable, but we need to do that matching, because these new drugs only work in that subset of patients with that mutation, and that’s why it’s so important to do that matching. And now, we have eight or 10 of these types of mutations that need to be looked for.

COLONTOWN’s CRC Biomarkers Worksheet

Editor’s Note: This resource was originally published by COLONTOWN, here.


This tool, developed by COLONTOWN Director of Clinical Trials Programming (and stage IV patient) Steve Schwarze, will help you gather information about your disease and your biomarkers to discuss with your medical team. Download the PDF and fill it out!

Download Guide

MyTumorBioMarkers-1

Download Guide

Why Should You Ask About Lung Cancer Biomarker Testing?

Why Should You Ask About Lung Cancer Biomarker Testing? from Patient Empowerment Network on Vimeo.

Biomarker testing is a vital component of lung cancer care. Dr. Manish Patel, a lung cancer expert, shares important questions for patients to ask about this essential testing to help ensure optimal care.

Dr. Manish Patel is a medical oncologist and Associate Professor of Medicine in the Division of Hematology, Oncology and Transplantation at the University of Minnesota. Learn more about Dr. Patel, here.

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Transcript:

 Katherine Banwell:

Why should lung cancer patients ask their doctor about biomarker testing?

Dr. Patel:

It’s extremely important. Biomarker testing is really the guiding principles by which we make a treatment plan for lung cancer patients in 2021.

We know that every patient’s lung cancer is a little bit different at the molecular level. So, they might look the same under the microscope, but, you know, if we get to a more deeper level, we can understand that they are quite different and they may respond differently to different treatments.

And so, it’s extremely important. And I think it’s important to know that nationwide we don’t always do a great job of doing real adequate biomarker testing. And so, from a patient perspective, it’s really useful to be an advocate for yourself and to ask your physician, you know, “Have we done biomarker testing, and to what extent have we done biomarker testing?” because it’s not uniform across the country at the moment.

Katherine Banwell:

Are there specific biomarkers that affect treatment choices?

Dr. Patel:

Absolutely there are. So, as an example, the molecular testing with DNA mutation analysis – so we actually look at the mutations that are present within a patient’s tumor, and that really does define a group of patients both in the curative setting and in the setting with more advanced disease that defines our treatment choices. Likewise, PD-L1 is a biomarker now that is being incorporated onto whether or not we use immunotherapy or whether we use immunotherapy with chemotherapy for patients that don’t have mutations.

So, it’s become an extremely important part of our treatment regimen. 

In-Depth Testing for Lung Cancer Prognosis and Treatment

In-Depth Testing for Lung Cancer Prognosis and Treatment from Patient Empowerment Network on Vimeo.

How is in-depth lung cancer testing used in determining lung cancer prognosis and treatment? Expert Dr. Heather Wakelee shares insight about biomarker testing, genomic testing, and how test results may impact treatment options.

Dr. Heather Wakelee is a thoracic medical oncologist and deputy director of the Stanford Cancer Institute where she also serves as the division chief of medical oncology. Learn more about Dr. Wakelee, here.

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Transcript:

Katherine:

Dr. Wakelee, but what is genomic or biomarker testing?

Dr. Wakelee:

So, we are struggling with how to have one unifying way of describing it because it’s so complicated. So, to me, biomarker testing is any aspect of the tumor that helps us choose the best treatment for that patient. And so, it’s a very broad term. And, within biomarker testing, there are several different ways that we look at it.

So, one is to look at what proteins are on the cell’s surface. And, we do that by having stains that we use to stain the tissue. So again, complicated, but when a piece of tissue is taken out of the person, part of the tumor is removed. It’s sliced into little tiny slices, which are then put on glass slides that can be looked at under the microscope. And, that’s how the pathology doctors can look and see, “Ah, this looks like cancer,” or, “It doesn’t look like cancer.” When it does look like cancer, you can then put on stains, so basically, different colored antibodies that will light up if that particular protein is there. And so, that helps us figure out for sure that this started in the lung because there are specific proteins that are only found in lung. So, that’s one way we used it, and this is an older technology. But we also can use that to look for how much of this PD-L1 protein is expressed.

And so, that’s an important biomarker, but it’s not based on genomics, which is when we’re talking about the DNA.

Then, we have the genomic testing, and that’s when we’re looking at the genome of the tumor and how that genome is different. And, that’s that DNA or RNA testing. We talk about it with the next-gen sequencing. So, “sequencing,” any of those terms are all meaning we’re looking at some aspect of what makes the tumor genes and therefore the proteins made by the tumor different than the rest of the genes in the person.

And so, that testing, that genomic testing can be done on either the tumor specimen or that’s where we can do blood tests that will be able to pull out those bits of the DNA that are from the tumor versus from the person and help us figure out what’s going on with the cancer. So, when we talk about biomarkers, the whole picture, and when I’m talking with patients who are diagnosed with lung cancer, we talk about well, there’s chemotherapy treatment, which is good for almost everybody. There is targeted therapy.

Targeted therapy is usually based on those genomic tests, and the genomic tests can be done either on the tissue or on blood. But, they’re really important to have a full understanding of the

tumors to do a comprehensive or next-gen sequencing analysis of the tumor or DNA. And then, you have the immune therapy where that PD-L1 biomarker is important. So, that’s the way I think about it, and the biomarkers are really critical for helping us figure out what’s the best path forward for any individual patient.

When I started treating lung cancer patients 20 years ago, we only had chemotherapy. And now, for metastatic disease, with using the right biomarkers, we can figure out so much more about the cancer to be able to personalize the treatment, for many patients, being able to offer pill therapies that are somewhat less toxic and highly active and give people more time. And now, we’re in the immune therapy revolution, which is helping a whole other group of patients living with lung cancer to be able to live with quality life for much longer. And the pace of discovery is just going up so quickly. And, I think that’s what I’m most hopeful about is just how much attention is being paid on lung cancer and finding better therapies that are going to help more people for a longer period of time. 

How Does Biomarker Testing Impact DLBCL Treatment Options?

How Does Biomarker Testing Impact DLBCL Treatment Options? from Patient Empowerment Network on Vimeo.

Biomarker test results may help guide diffuse large B-cell lymphoma (DLBCL) treatment options. Expert Dr. Loretta Nastoupil explains how biomarkers are currently used in determining an optimal treatment approach and how research efforts could help create more precise treatments.

Dr. Loretta Nastoupil is Director of the Lymphoma Outcomes Database in the Department of Lymphoma/Myeloma at The University of Texas MD Anderson Cancer Center. Learn more about Dr. Nastoupil, here.

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Transcript:

Katherine:

What about biomarker testing results?

Dr. Nastoupil:

So, in a perfect world, we would be able to take a patient’s specific tumor, sequence it, and provide a recipe or a solution to solve the problem. And that’s what a biomarker is.

It’s something that’s unique to the patient’s given tumor that then would inform what is the best treatment. So, we’re lacking in some ways a perfect scenario. What we do have, as what I’ve mentioned, some molecular studies where we can look for specific genes or rearrangements in the genes that may help us predict the future.

And in diffuse large B-cell lymphoma, one of the most common examples of this is what we call double hit where we’re looking for two genes – MYC, which is M-Y-C, and either BCL-2 or BCL-6. These are genes that we all have. It’s just the lymphoma has moved these genes into sort of more of a prime real estate location that makes it a little bit more resistant to standard treatments.

So, if you move those genes in that tumor DNA, we call that our rearrangement. And we pick that up based off a FISH study. And if both of those features or all three of those features are there, we call it a double or triple hit.

That’s a potential biomarker that may suggest that particularly R-CHOP or standard treatment may not be the best strategy. There’s some limitations to that conclusion in that that’s not true for every patient. For about 20 percent to 30 percent of patients with double hit features, they’re going to do really well with R-CHOP.

So, that’s why we are lacking in how effective these biomarkers are. And it would be great if we had additional biomarkers that were more precise or could tell us more than just that the standard may not be optimal.

So, that’s where we’re spending a great deal of time and effort in our research efforts just trying to identify biomarkers that may tell us what’s the best approach for a given patient or what we like to call personalized medicine. 

What Do Metastatic Breast Cancer Patients Need to Know About Genetic Testing?

What Do Metastatic Breast Cancer Patients Need to Know About Genetic Testing? from Patient Empowerment Network on Vimeo.

What do metastatic breast cancer patients need to learn about genetic testing? Expert Dr. Sarah Sammons explains the difference between germline testing versus somatic testing and defines key terms, including biomarker testing and genetic mutations.

Dr. Sarah Sammons is an oncologist at Duke Cancer Institute and Assistant Professor of Medicine at Duke University School of Medicine. Learn more about Dr. Sammons here.

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Transcript:

Katherine:

Many patients are confused by genetic testing. Let’s look at the difference between germline and somatic testing.

Dr. Sammons:

Yes, that’s a really good question and one that comes up in the clinic quite frequently. When I tell a patient that I want to get some sort of genetic testing, they often are confused, and say, “Well, I’ve already had genetic testing, maybe when I was first diagnosed with early-stage breast cancer.” And so then, I do often times need to explain what the difference between germline and somatic genetic testing is.

So, germline testing is testing that’s done on cells in your body that actually don’t have cancer. And the purpose of germline testing, which we often do in early-state breast cancer or in metastatic breast cancer, is to understand if you have inherited genes that could pre-dispose you to developing breast cancer. But also, in the metastatic setting, it’s important to do germline testing because we do have drugs that are approved for patients that have germline mutations in the BRCA genes. And research is evolving, but there are other germline genes of interest that could be biomarkers for other therapies.

Somatic testing is basically genetic testing on the breast cancer cells themselves. So, most often we will get a biopsy, usually of a metastatic area, like the liver, or bone, or lung. Really the safest, most accessible place. If we’re able to safely get a biopsy, oftentimes we’ll send somatic testing – that’s also referred to as usually next generation sequencing – is all somatic testing. And that tests mutations that have developed in the breast cancer itself. It could potentially be biomarkers for optimizing and tailoring personalized treatment approaches to the patient’s cancer.

Katherine:

I’d like to define a few terms. First of all, what is biomarker testing?

Dr. Sammons:

That’s a really good question. So, a biomarker is really anything – it could be a gene; it could be a protein – that is expressed on a patient’s cancer, that makes them a good candidate for a certain drug, essentially.

So, one of the earliest biomarkers that we’ve had in breast cancer – and still, I would argue, the most important biomarkers – are estrogen receptor and HER2.

Now, we test all breast cancers for estrogen receptor and HER2 because we know for estrogen receptor – if a patient has estrogen receptor high positivity at their initial diagnosis, that is the best biomarker for endocrine therapies, whereas HER2 present on a breast cancer cell – patients that overexpress HER2, they are great candidates for drugs that specifically target HER2.

So, it simply means that we found something on their breast cancer cell that makes them a good candidate for a treatment.

Katherine:

What is a genetic mutation?

Dr. Sammons:

So, genetic mutations are a permanent change in the DNA of a gene, in either a cancer cell or a cell that somebody was born with. So, it’s a change in the DNA sequence. And some gene mutations drive cancers to grow. Some mutations do not drive cancers to grow. Generally, in the treatment of all advanced cancers, we only target with drugs those gene mutations that we know are what we call “driver mutations.” So, mutations that actually cause the cancer to grow.

How Does Biomarker Testing Impact Metastatic Breast Cancer Treatment Options?

How Does Biomarker Testing Impact Metastatic Breast Cancer Treatment Options? from Patient Empowerment Network on Vimeo.

How are metastatic breast cancer treatment options impacted by biomarker testing results? Dr. Jane Lowe Meisel explains germline testing versus somatic testing – and how results may be used to help determine optimal treatment.

Jane Lowe Meisel, MD is an Associate Professor of Hematology and Medical Oncology at Winship Cancer Institute at Emory University. Learn more about Dr. Meisel here.

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Transcript:

Katherine:

What is biomarker testing, and how do results impact treatment options?

Dr. Meisel:

Great question. So, I think people often confuse germline mutations and somatic mutations. So, I’ll talk about that a little bit as we talk ab out biomarkers. So, I think biomarkers in general are factors within the tumor that allow us to make treatment decisions. So, if a biomarker in the tumor can predict response to a certain type off treatment, we want to know what that biomarker is so we can better treat the patient and more elegantly design a regimen. So, for example, having an estrogen-positive tumor, estrogen positivity is a biomarker suggestive of response to anti-estrogen treatments, which is why we give anti-estrogen therapy to ER-positive breast cancers.

But more recently, we’ve been able to move a little bit beyond estrogen, HER2 and triple-negative as our subtypes and think a little bit more in some patients about more sophisticated biomarkers. And that’s where somatic mutation testing comes in. So, there are germline mutations, which are inherited mutations that’re present in every cell in your body. So, for example, if your mother was a BRCA mutation carrier and based that BRCA mutation down to you, you would have a germline BRCA mutation. So, your cancer would carry a BRCA mutation, but so would every other cell you have.

And that’s a biomarker. That would make you a candidate for something like a PARP inhibitor. But in cancers, which the genes in the cancer have gone awry by definition, there are often other biomarkers within that tumor that may make you a candidate for certain treatments. And so, those mutations that arise in the cancer itself are called, somatic mutations. Those are mutations in the tumor, can’t be passed down to your offspring or anything like that and were not inherited by your parents. But mutations that’ve accumulated over time as these cancer cells have gone awry.

And so, genomic testing, or biomarker testing can be done often on a metastatic specimen. So, to be specific about it, say you had a metastatic breast cancer to the liver. You could have a liver biopsy done and that tissue from the liver biopsy could be sent for genomic testing. There are a lot of companies that do this and there are also some larger cancer centers that actually do in house testing for genomics. So, this testing can be done and what it does then is, it helps you determine, do you have a biomarker that predisposes you to a certain treatment.

So, if that metastatic liver tissues, for example contained high levels of PBL1 expression for example and you were triple-negative, that would say to your doctor ooh, this is a great candidate for immunotherapy along with chemotherapy. Or if you’re estrogen-positive for example and your tumor contains a mutation in the gene called PIK3CA and that might make you a candidate for a drug called, Alpelisib. So, these mutations could often be paired to a drug or treatment options, or sometimes to a clinical trial to allow patients to come take advantage of more targeted therapies. That sometimes, because they’re targeted, have fewer side effects than drugs that are a little more discriminate.

Katherine:

Marie sent in this question prior to the program, “Are there some genetic tests that’re more accurate than others?”

Dr. Meisel:

That’s a good question. I would say most genetic testing platforms have been heavily vetted and approved by national organizations and laboratories that’ve been tested multiple times before they’re allowed to be marketed. So, I wouldn’t say that one genetic testing program is necessarily better than another. I think that any of the commercially available platforms that’re used are probably pretty accurate.

I was just going to add one thing to that, if that’s okay. I was going to say that I think it’s important when you’re using genetic testing platforms though to know what you’re testing for. So, there are some platforms that will just test for say, the three most common mutations in BRCA1 and BRCA2 that Ashkenazi Jews have.

And so, if you get that testing back and you’re negative, you might think, “Oh, I don’t have a mutation in those genes.” Well, we know from that testing, just as an example, is that you don’t have a mutation in those three alleles of that gene. But if you haven’t had full gene sequencing, you could have a mutation somewhere else in that gene. So, I would say all genetic testing that’s commercially available is probably pretty accurate. But it is important when you get testing done to know what you’re testing for and what you’re not testing for so you can interpret your results accurately. And genetic counselors, as well as your doctors can help you do that. 

Understanding Key Tests That Affect AML Treatment Choices

Understanding Key Tests That Affect AML Treatment Choices from Patient Empowerment Network on Vimeo.

For acute myeloid leukemia (AML), test results play a vital role in determining the most appropriate treatment option. Expert Dr. Ellen Ritchie reviews key tests used to pinpoint a patient’s specific AML, how the test results are utilized, and important questions patients should ask their doctor about AML testing. 

Dr. Ellen K. Ritchie is assistant professor of medicine and a member of the Leukemia Program at the Weill Cornell Medical College of Cornell University and the New York Presbyterian Hospital. More about Dr. Ritchie, here.

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Transcript:

Katherine:

So, let’s help our audience be clear about basic testing. What tests are necessary to help understand a patient’s specific disease at diagnosis?

Dr. Ritchie:

I mean certainly it’s important to do a physical exam and to find out what the general health of the patient is. In order to evaluate an AML, or any other leukemia, I look at the peripheral blood smear. To look at what I think the type of leukemia might be that I am dealing with. There are some leukemias that have particular way that they look like acute promyelocytic leukemia for which there is a designated therapy which works.

And you can tell that just by looking at a peripheral blood slide. The next test is always a bone marrow biopsy. Patients are not delighted that that is a test, but it is a test that can be done in the office, usually within 15 to 20 minutes. And that test gives us a lot of information. It gives us information about what type of AML it is, what are the markers on the outside of the cell, it gives us information about the chromosomes inside the leukemia cell. Are there missing chromosomes, or rearranged chromosomes? And if there are, that can be very relevant to the prognosis. And lastly, it’s sent for a particular mutations or markers. So, we look for IDH3 mutations, we look for FLT3 mutations, we look for IDH1 and IDH2 mutations, and we do an entire myeloid panel. Which is about 44/45 genes that are most commonly mutated in patients with AML. So that’s the initial work-up for any AML patient.

Katherine:

You mentioned markers, Dr. Ritchie. What is genomic, or biomarker testing?

Dr. Ritchie:

So, we’re looking really at most specifically at mutations inside individual genes that might be in your leukemia cell. So, there are some mutations actually that confer a better prognosis. Like NPM1 or CEPBA, those can be more positive type of prognosis than some of the others.

But we’re also looking for markers that might be targetable with certain therapies that we have. So, if you have a FLT3 ITD or TKD, we actually have particular drugs which can target those particular mutations. There are also drugs that are FDA approved to treat IDH1 and IDH2 mutations.

There are certain mutations that have a relatively poor prognosis, like TP53 for which there are clinical trials which are available, which specifically are meant to target patients who have those sorts of mutations. And there’re other clinical trials using the FDA-approved drugs that I just mentioned, for FLT3, for IDH1 and IDH2 and combining it with other agents to try and improve outcome in AML patients.

Katherine:

Some patients may not know if they’ve received these important tests, so what key questions should they be asking their physician about testing?

Dr. Ritchie:

So, physicians, they – financial coverage of the mutational testing is not uniform across the country and across insurances. So, Medicare and different Medicare insurances and some of the private insurances all vary in their coverage.

So, in my clinic, I am asking – I prefer the test that we do in house at Cornell. But it’s important that I ask, what will their insurance cover. And make sure that I send the appropriate testing that will be covered by insurance. There are some insurances that will not cover this type of testing. So, it is a real question for the patient, when you go to see the doctor to say, are you going to do mutational NGS testing?

And, will my insurance cover this? Hopefully most – if Medicare adopts the coverage of these types of mutational testing, it’s often true that private insurance will eventually pick this up. But it’s a murky field, and it’s really important to talk to your doctor about this. The cost of the bone marrow biopsy, and the chromosomal evaluation is nearly always covered by insurance.

What Are Biomarkers and How Do They Impact Lung Cancer Treatment Options?

What Are Biomarkers and How Do They Impact Lung Cancer Treatment Options? from Patient Empowerment Network on Vimeo.

What are lung cancer biomarkers, and how do they impact treatment options? Dr. Isabel Preeshagul defines biomarkers and explains how different biomarkers may help determine treatment options and aid in predicting treatment response. 

Dr. Isabel Preeshagul is a thoracic medical oncologist at Memorial Sloan Kettering Cancer Center. Learn more about Dr. Preeshagul here.

See More From INSIST! Lung Cancer

Related Resources:


Transcript:

Katherine Banwell:

Well, let’s define a few terms that are often confusing for patients. What are biomarkers?

Dr. Preeshagul:

Those are somatic alterations in the tumor just like EGFR, or ALK fusions, or MET exon 14, or MET amplification, or KRAS G12C.

These are all genes that are altered in the tumor. And these are genes that drive the tumor to grow. There are also other markers like PD-L1, which is a marker for response to immunotherapy. And there are various markers.

I could go on and talk about it for hours, but those are the more common ones that we know how to treat and how to handle and prognosticate.

Katherine Banwell:

And another term that’s sometimes confusing, what is a genetic mutation?

Dr. Preeshagul:

So, for genetic mutations, you have germline, and you have somatic. So, a germline mutation may be something like a BRCA1 or a BRCA2 that we see in patients with breast cancer or prostate cancer versus a somatic mutation which would be EGFR that I had mentioned or ALK fusion. So, germline mutations are the ones that we worry about being heritable.

And somatic mutations are those that are not thought to be heritable but thought to happen spontaneously within the tumor itself and cause the tumor to grow. We are constantly learning more about these though, however. But it’s really important to talk with your doctor to see if you have a germline mutation or a somatic mutation or if you have both.

And it is never wrong to seek an opinion with a genetic counselor to make sure that everyone in your family is safe, that you’re up to date on age-appropriate cancer screening, and that your family gets screened appropriately as well if indicated.

Katherine Banwell:

Are there specific biomarkers that affect lung cancer treatment choices?

Dr. Preeshagul:

Oh, definitely. One that I had mentioned is PD-L1. And this is a marker that we look for expression. So, based on FDA approval for pembrolizumab, if you have an expression of 50 percent or more, you are able to get immunotherapy alone in the upfront setting. If you have less than 50 percent, we often give you chemotherapy plus immunotherapy. And that’s based on a clinical trial known as KEYNOTE-189.

Other markers such as EGFR, as I had mentioned, ALK fusions, RET, NTRK, MET exon 14, ROS1, KRAS, HER2, you name it, those are alterations that we look for ideally in the upfront setting as well and can really affect treatment planning.

And those patients that harbor mutations like EGFR and ALK and ROS1 or MET exon 14, we know that these patients do better with targeted therapy upfront, not standard-of-care chemo. So, it’s really important to know about the presence of these alterations before you start treatment if possible.

What Key Tests Impact Lung Cancer Treatment Choices?

What Key Tests Impact Lung Cancer Treatment Choices? from Patient Empowerment Network on Vimeo.

Dr. Isabel Preeshagul, a lung cancer specialist, provides insight about lung cancer subtypes and how test results may play a role in determining the best treatment option for patients.

Dr. Isabel Preeshagul is a thoracic medical oncologist at Memorial Sloan Kettering Cancer Center. Learn more about Dr. Preeshagul here.

See More From INSIST! Lung Cancer

Related Resources:


Transcript:

Katherine Banwell:

When it comes to lung cancer, Dr. Preeshagul, what important tests should patients undergo that help in making treatment decisions?

Dr. Preeshagul:

So, it’s important to obviously confirm the diagnosis and make sure that it’s lung cancer, first of all. After that, you need to know the histologic subtypes. So, I mean, is this non-small cell, or is it small cell lung cancer?

And the difference between those two, it’s very important. They are not the same. Their treatments are different. Their prognosis is different. The staging is different. Everything is different. If you have non-small cell lung cancer, it’s important to know if you have adenocarcinoma or squamous cell carcinoma, large cell, neuroendocrine. It’s really important because the treatments vary. The prognosis varies. And how we approach those patients is different.

In addition to that, over the past 10 years, we have really come to understand the importance of next-generation sequencing testing, which I know we’re going to get to. But evaluating to see if your patient harbors any mutations or alterations that could be targetable because that would really change your treatment plan.

Katherine Banwell:

All right. So, let’s get to some of that testing. What is biomarker or molecular testing?

Dr. Preeshagul:

Sure. So, we use a lot of these terms synonymously. So, alteration, mutation, positive biomarkers, these are all basically one and the same. So, if you look at lung cancer 20 years ago, we really didn’t know about any of these. You had lung cancer, you got X, Y, and Z chemo. And that really was it.

But with the discovery of EGFR alterations and realizing that some patients harbor an EGFR mutation, and this mutation is what’s driving their tumor and then the discovery of erlotinib, or Tarceva, we realized that it’s important to evaluate for the presence of these mutations.

So, these are somatic mutations that occur within your tumor and drive your tumor to grow, and some of these alterations are targetable.

But some of these alterations that we find, unfortunately, and the majority of them, we don’t really know the significance of them as of yet, or we know the significance of them, but we don’t have a magic bean to treat them. But that does not mean that there won’t be something in the future.

How Does Genetic Testing Impact Prostate Cancer Care?

How Does Genetic Testing Impact Prostate Cancer Care? from Patient Empowerment Network on Vimeo.

Genetic testing has taken on a vital role in prostate cancer care. Expert Dr. Maha Hussain provides insight about genetics and biomarker testing, how results are used in determining treatment options, and key questions to ask to ensure the best care.

Dr. Maha Hussain is the Deputy Director of the Robert H. Lurie Comprehensive Cancer Center of Northwestern University. Learn more about this expert here.

See More From INSIST! Prostate Cancer

Related Resources

Treatment Options for Advanced Prostate Cancer

Understanding Prostate Cancer Staging and Progression

How Do Genetic Mutations Impact Prostate Cancer Treatment Options


Transcript:

Katherine:

Many patients are confused about the role of genetics and biomarker testing in prostate cancer care.

For people who haven’t heard of some of these terms before, let’s go into the definitions. So, what is genomic or biomarker testing, first of all?

Dr. Hussain:

So, I think there’s one thing. Maybe I can explain because the wording can be confusing. So, there is the genetics, and there is the genomics. The genetics would be what we inherit from our families. So, this would be present in our body. The genomics testing would be to look for what the structure of the genes of the cancer itself, cancer cells itself. Now, that doesn’t mean that this was inherited. It’s just that this is a renegade, and it evolved. And that is what is going to show up.

The reason these two are important, both of them have implications potentially for treatment or perhaps clinical trials. And again, with the PARP inhibitors, the BRCA-like genes will have implications for treatment sort of for resistance cancers.

With regard to the genetics, the implications are for, again, inheritance of family and potential risk for blood relatives. Now, there are panels that are FDA-approved for the purpose of genetic testing. And the requirement or the indications right now, anybody who presents with metastatic disease or an aggressive disease and diagnosis, the recommendation is to proceed with the genetic testing, certainly counseling and testing, because there are some people who prefer not to be tested. And that’s something else.

What I tell my patients is this, even if the testing is done and it was negative for inherited genes that might put the patient family at potential higher risk, the fact that a person has prostate cancer by default puts potential, adds risks to family, to blood relatives.

And the risks aren’t just for the males with regard to prostate cancer, but certainly breast cancer, ovarian cancer, pancreatic cancer potentially, and things of that sort. So, this is where I think a patient needs to be discussing with their doctors. And certainly, there are many centers that have genetics counselor, and so that’s where I generally refer my patients to. I counsel them myself, and then refer them also for more discussions with genetics counselor.

Katherine:

What exactly are genetic mutations? And how do they impact a treatment path?

Dr. Hussain:

Well, I think, again, it’s the changes that happens in specific genes that may promote the aggressiveness of a cancer. And so, the BRCA gene is one of the oldest genes that have been identified in breast cancer. And essentially, the body regulates itself.

And when cancer cells come up and they sort of – the body no longer sustains that regulation, the genetic regulation in those cancer cells. Those cancer cells will behave the way they want to. That means that they’re going to grow faster. That means they could be resistant to treatment and things like that. And so, that’s what we check for, these alterations. And there are certain medications that would allow – and again, in prostate cancer, it’s not a lot. It’s just, as I said, right now the only things that are proven is the PARP inhibitors. This is essentially to kind of gang over the cancer cell, preventing from allowing it to repair itself so it can continue to grow.

Katherine:

Some patients may not know if they’ve received these important tests. So, for patients that aren’t all that sure, what key questions should they be asking their physician or their specialist?

Dr. Hussain:

So, I would say when it comes to the genetics testing, I believe a patient has to consent.

Because again, we live in the U.S., and this is a private matter for the patient. So, this generally has to be the case. Otherwise, depending on the institution, sometimes some tests will require for the overall testing for looking for any genetic alterations, general tumor alternation. Different centers have different things. But the patient should ask and say to their doctor, “Have my cancer genes been tested? Have my genes been tested? And if they have, what are the results?” Because we generally share with the patients once it’s been done.

The other things I should point out, some of the good things that have happened recently. Up until recently, when it comes to the tumor genomic testing, tissue was required. Nowadays, the FDA has approved blood tests that several companies now run that can actually collect blood sample and basically test it for circulating tumor cell genes there.

Now, no testing is 100 percent perfect. But in situations like patients with prostate cancer who may not have recent tissue or adequate tissue for testing, certainly doing the blood test to verify if there is anything reflective of the genes of the cancer, and that may allow for potential actionable-type treatments. Again, up until now, this is more going to apply for potential clinical trials or resistant metastatic disease.

What Is a CLL Biomarker?

What Is a CLL Biomarker? from Patient Empowerment Network on Vimeo.

What is a chronic lymphocytic leukemia (CLL) biomarker? Dr. Paul Barr provides the definition of a biomarker and explains how they may assist in determining a CLL patient’s prognosis and treatment approach.

Dr. Paul Barr is Professor of Hematology/Oncology at University of Rochester Medical Center. Learn more about Dr. Barr, here.

See More from Engage CLL


Related Resources:

 

An Expert’s Perspective on CLL Research Advances

Transcript:

Katherine:

Often patients are confused with the term biomarker or biomarker testing. Would you define that for us?

Dr. Barr:

Sure. Biomarkers, I think of them as surrogates to understand the bigger picture. A lot of times what we really want to know when we’re meeting a patient is what’s going to happen in the future? What’s going to happen in five and 10 years from now? Or maybe we want to know as we’re getting closer to treatment, how well is this going to work and how long is it going to work for?

So, we do a lot of research in developing surrogate tests to try to give us an idea of what the future might hold. And so, we have developed a number of molecular genetic tests that we test for, and they give us an estimate of what to expect in terms of the patient’s prognosis.

Or perhaps they help predict for which treatment might work best. So, we often, will look at some molecular aberrations or some genetic tests that tell us about abnormalities just within the CLL cells in the leukemia cell. And they can predict for more slowly or rapidly growing disease. And other tests, might predict for, which drug might serve a patient best in terms of efficacy or how long would it work or for safety.

So, think of that as useful tools to help us give the patients an idea of what to expect over time.

A Conversation With Dr. Jo-Anne Vergilio

A new year means new programs! We’d like to introduce to A Conversation With, which is a collection of conversations with healthcare leaders, including patient advocates and various healthcare professionals, to take a closer look at the topics and issues important to empowered patients, care givers, and their families.

In our first segment of A Conversation With, we spoke with Dr. Jo-Anne Vergilio the Senior Director in Pathology; Senior Associate Medical Director in Laboratory Operations, and Senior Hematopathologist at Foundation Medicine, Inc. Dr. Vergilio discusses what patients should know about biomarker testing and answers the following questions:

  1. How does biomarker testing work?
  2. How does biomarker testing help a cancer patient’s doctor with determining next steps in treatment?
  3. When in a patient’s course of treatment would they want to get biomarker testing?
  4. What is the difference between different kinds of biomarker tests?
    • Single marker vs. comprehensive
    • Tumor vs. liquid
  5. What does it mean for a biomarker test to be FDA-approved?
  6. If a doctor isn’t offering biomarker testing, what are some things that patients might say to their doctor?