Tag Archive for: germline testing

How Does Biomarker Testing Impact Ovarian Cancer Screening and Detection?

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What role does biomarker testing play in ovarian cancer detection? Dr. Nita Karnik Lee reviews genetic mutations related to ovarian cancer and discusses key steps women with a family history of the disease should consider. 

Dr. Nita Karnik Lee is a Gynecologic Oncologist at The University of Chicago Medicine. Learn more about Dr. Lee.

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Transcript:

Katherine Banwell:  

What is the role of genetic and biomarker testing as screening tools? 

Dr. Nita Karnik Lee:  

Genetic testing is very important. When we get, for example, and I’ll kind of back up a little bit to say if somebody gets diagnosed with ovarian cancer, that is actually everyone who has a diagnosis of ovarian, fallopian tube, or peritoneal, because those are all sort of the same cancer, should get genetic testing to see if there’s a hereditary predisposition in their genetics that are passed on.  

That’s called germline testing. And those patients, and 20 percent of them, may actually have a hereditary condition that could be passed on. Then that’s where you can see how important it is. If I have somebody, and her children now know that the person has the BRCA gene, for example, then it’s really important for her children, men and women, to get screened, because then they may be able to do preventive measures, such as preventive surgery, preventive medications, or more frequent screening, to be able to prevent cancer from happening. 

Katherine Banwell:  

Okay. What genetic mutations are associated with ovarian cancer? 

Dr. Nita Karnik Lee:  

The ones that are most common that you hear about are something called BRCA, or B-R-C-A, 1 and 2. Those make up the majority of those mutations. There are some other less common ones such as Lynch syndrome, which is more associated with colon and endometrial cancer but can have about 10 percent to 12 percent of patients related to ovarian cancer as well.   

Nowadays, when we do genetic testing, we do a panel, so there are like 35 genes that are tested. There are a whole lot of different genes that can have an association with ovarian cancer, but the BRCA genes are the ones that most people hear about.   

Katherine Banwell:  

Should women with a family history of ovarian cancer take extra precautions? 

Dr. Nita Karnik Lee:  

That’s a very good question. So, if you have a family history, it’s probably important to talk to your doctor and to maybe even see somebody in cancer genetics who can draw out a family tree for you to see how high is this risk? If people have an ovarian cancer patient, one – or a breast cancer patient – some of it also matters what was the age that that patient got diagnosed. Some genetic mutation syndromes, actually the patient gets diagnosed much younger than average.  

The average age for ovarian cancer is about 60. Some patients will get it. For some genetic mutations, it’s still about that range. So, I think it’s important because even if you don’t have a genetic mutation, having a family member with ovarian cancer slightly increases your risk. 

Knowing those symptoms, knowing that your history will help your doctor dictate how quickly are they thinking about something else is really important, ultrasound, but we know that ultrasound is not perfect. 

What Questions Should Patients Ask About Endometrial Cancer Testing?

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What questions should patients ask about endometrial cancer testing? Dr. Hinchcliff highlights key questions, while stressing the importance of understanding both germline and somatic tests and their impact on treatment. She emphasizes the value of open, ongoing communication with doctors.  

Dr. Emily Hinchcliff is a Gynecologic Oncologist at Northwestern Medicine. Learn more about Dr. Hinchcliff.

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Endometrial Cancer | What Is Personalized Medicine?

Transcript: 

Katherine Banwell:  

Right. And so, what questions should patients ask about their test results? 

Dr. Emily Hinchcliff:  

Yeah, so, I think first and foremost, just getting an understanding of what tests your doctor is sending is really important. This should be an open conversation, and it’s a conversation that you should actually have as you are going throughout your cancer journey. It’s not just a conversation at your diagnosis, it’s something that, if your cancer comes back, it should be reassessed. Are there additional markers that we should send that we didn’t send in the upfront setting? Do we have a complete picture of my cancer? 

And so, I think that is definitely a question to ask, is what tests are you sending, and what is the outcome of those tests, right? How would that test change your potential management or change the options that you have for me in terms of my cancer treatment? The other thing that I will say that I think can be confusing for patients as we think about the genomics and genetics of a cancer is that it’s really important to understand the difference between something called germline and something called somatic testing, and so, I’m going to explain that, because I think it can be confusing. 

The first, germline, is a test that is testing the genetics of the whole body – so, of a person – to see if there’s anything that’s hereditary that might have predisposed them to getting cancer. And so, that is something that, if it is abnormal, it may mean that family members need to get tested, and there are things that we can do to try and prevent cancers for other people in your family that might be at risk. So, that is germline testing. 

That’s different than somatic testing. Somatic testing is when we test the tumor itself to understand what about this tumor allowed it to become abnormal, allowed it to grow abnormally and keep growing the way cancer does? And both of those are really important. So, I think as you ask your doctor, “What tests are you sending?”, it’s important to ask about tests in both of those categories. 

What Key Factors Impact Prostate Cancer Treatment Decisions?

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What Key Factors Impact Prostate Cancer Treatment Decisions? from Patient Empowerment Network on Vimeo.

Prostate cancer expert Dr. Channing Paller reviews key variables that impact prostate cancer treatment decisions and explains immunotherapy, PARP inhibitors, and personalized medicine.

Channing Paller, MD is the Director of Prostate Cancer Clinical Research at Johns Hopkins Medicine. Learn more about this Dr. Paller.

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Transcript:

Katherine:

What are other options that are available now, for patients? 

Dr. Paller:

For curative intent, the main two treatment options are surgery, radiation. Many people for very localized disease are trying other therapies, such as cryotherapy, and more focal therapies. But really, for curative, the standard is surgery or radiation. And as it gets more advanced, circling back to advanced prostate cancer, we are learning that combination therapy is better. So, adding pills like abiraterone, adding systemic therapies, help patients do better.  

So, there’s a big, long list of therapies upfront that we use for metastatic hormone-sensitive prostate cancer. There’s abiraterone, there is apalutamide (Erleada), there’s enzalutamide, and now, darolutamide (Nubeqa). 

And in fact, in fit patients that can tolerate chemotherapy for metastatic high-volume prostate cancer patients, we always recommend triple therapy, either with abiraterone, docetaxel, and ADT, or with darolutamide, docetaxel, and ADT, and these patients really seem to do better for longer. The other thing I would add is the PEACE-1 trial, which looked at abiraterone and docetaxel, found that patients would do best by adding growth factor support. And so, that is recommended. 

The other thing I want to point out to patients is, I know we’re all eager to get started when we find out we have a diagnosis of metastatic prostate cancer, but sometimes, these therapies are quite tough on the system when you have a lot of cancer in your body, and my recommendation to everybody is, one thing at a time. 

So, start the hormone therapy and wait at least 30 days, and in fact, in the PEACE-1 trial, they waited 45 days, right? That allows the testosterone levels to fall, it allows you to adjust to the side effects of hormone deprivation therapy, and it allows your body to be ready for the next line of therapy. And you can add the ADT to second line, such as abiraterone or daro during that time, but not adding the chemo all at once, that really makes a difference. 

I find, unfortunately, when patients and their providers don’t follow those strict criteria, as they did in the trial, meaning they start chemo and abiraterone and ADT on day one, the levels of chemotherapy get higher in the bloodstream because testosterone regulates that, and we’ve published on that before. And they end up with terrible side effects from the chemotherapy, such as neutropenic fever, which means you end up in the hospital with a bloodstream infection and a fever, and more neuropathy, meaning numbness and tingling in your hands and feet. 

And so, I really caution people to spread those therapies out over the first 90 days, and you’ll do better in terms of side effects, and just as well in terms of overall survival. 

Katherine:

Where does hormonal therapy fit into the treatment options, and have there been any advances in hormonal therapy?  

Dr. Paller:

Yes. So, hormonal therapy is the mainstay of how we take care of prostate cancer patients, whether we do this with surgical castration, which is not done very often anymore, or we do it with an LHRH agonist, or we do it with an LHRH antagonist. So, that means that we can do it with medicines that block the signaling, but that tells your body to produce testosterone in various ways. What’s really neat is we’ve made advances, that there are now oral options for some of these therapies. 

In particular, there’s a new therapy called Orgovyx, or relugolix, that is an oral LHRH antagonist that locks testosterone and allows us to stop prostate cancer growth. In addition, there are a variety of LHRH agonists that can be given as subcutaneous shots. 

What Is Breast Cancer Genomic Testing?

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What Is Breast Cancer Genomic Testing? from Patient Empowerment Network on Vimeo.

What do results of breast cancer genomic testing reveal? Expert Dr. Jame Abraham explains this type of testing and common breast cancer genetic mutations and discusses how tests are typically administered.

Dr. Jame Abraham is the chairman of the Department of Hematology & Medical Oncology at Cleveland Clinic and professor of medicine at Cleveland Clinic Lerner College of Medicine. Learn more about Dr. Abraham.

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Transcript:

Katherine:

Dr. Abraham, for breast cancer patients who don’t understand the term, what is genomic testing?   

Dr. Abraham:

So, genomic testing, there are two types of genomic testing, what we call as, germline testing. And then, there’s another one, what we call as, somatic testing. So, germline testing means, the question is, if I carry a gene which can make me high risk for breast cancer. So, one of the most common questions I get from our patients when I see them is, “Oh, do I carry a gene? Why did I get this breast cancer?” And then, the other question is, “What’s the risk for my kids, my daughter?” 

So, I’ve seen, about 5 to 10 percent of breast cancers are due to an abnormal gene. To find that, we do, what we call as, the germline testing. That’s the first – when we say genomic testing, that’s the most commonly understood nomenclature. 

So, do I carry this gene? It’s a blood test, or we can take a mouth swab. That will give us an answer, if that person carries a gene. 

Usually, we test several genes, and I’m sure, most of the people have BRCA1, BRCA2, PALB2, CDH1. Those are some of the genes we test, and BRCA1 and BRCA2 are the most common, and 80 percent of heredity, or those who are transmitted to the next generation, is attributed to BRCA1 and BRCA2.  

Katherine:

How is this testing administered?  

Dr. Abraham:

So, it’s a blood test. 

Most of the time, we can draw – usually, the way we do is, I like to say, if I’m seeing a patient who has – and this is a patient who’s 45 years old and has a strong family history, or in patients under the age of 50, with a triple-negative breast cancer, or any person under the age of 50, can be considered for genetic counseling. And then, based upon the conversation with a genetic counselor, we will recommend the genetic testing. Usually, it’s a blood draw. 

How Can Lung Cancer Physician-Patient Communication Be Improved?

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How Can Lung Cancer Physician-Patient Communication Be Improved? from Patient Empowerment Network on Vimeo.

Lung cancer physician-patient communication can sometimes present challenges. Experts Dr. Lyudmila Bazhenova and Dr. Jessica Bauman share factors that can create challenges and methods they’ve used to improve their communication and patient care.

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Transcript:

Dr. Nicole Rochester: 

Can you each share some examples from your own practice around improving physician-patient communication that may serve as exemplary for providers that are watching this program? And we’ll start with you, Dr. Bazhenova.

Dr. Lyudmila Bazhenova: 

I think it also has some challenges, because in the current environment of practicing medicine, we are, as physicians, we are pushed to see more patients, it’s all about productivity. So when you do that, something has to give. And a time that we can spend with the patient is limited. And I think it’s important, for myself, as a practice, I have the same, I call it spiel that I give to all my patients. It’s the same picture I write down when I speak and I give that paper to the patients. I’ve had, you know, created some preprinted things that I used to give to the patients. Don’t do it anymore. But I think that’s another thing, have some kind of information that is a patient level that I can give to the patients.

And I think we have to educate the patients as well, either by ourselves or using the platforms that we are exhibiting here, that is outside of our primary institutions. And to make sure that the patients are aware that each one of them who have a stage IV lung cancer, as well as early stage lung cancer needs to be tested for the molecular testing. And kind of put it also have the patient question the physician, did you do that? Was that test done? That’s one part of information.  And I think the second part is, we do have to do better in allowing our patients to get a faster access to us. And we kind of accept the fact that we are going to be working after hours. When the clinic is over, that’s where I’m going to go to my charts, and I’m going to answer my patient’s question.

It’s kind of an intrinsic, is the work of the physician. Hours is…unfortunately, doesn’t really count. There is no limit to that. So whatever it works, like having a nurse educator. We have in our institution, we have…we call her tissue coordinator, but she’s the person who can actually make sure that the tissue is done, she can also make sure that reports are sent to the patient and make sure that patient has ability to ask questions of somebody. And I think the EMR, electronic medical record, it’s kind of a love-hate relationship, I think, with all of us. But one thing that I find it made it much easier for me is to communicate with my patients using my chart and this ability to release the result to the patient by one click of a button, that saves time for me so I can spend that time to actually visit the patient and explain to the patient what needs to be done.

Dr. Nicole Rochster: 

That is awesome, thank you. Do you have anything to add, Dr. Bauman?

Dr. Jessica Bauman: 

Yes, yes, I agree that I think that this overall requires a lot of education, and especially when patients come in and they want to know tomorrow or yesterday, actually, what they’re going to get for treatment and what we’re going to start with. And so telling them that actually we still can’t decide for at least another week or two, that in of itself can be challenging. I think the other piece of this that’s always important is, in general, when we’re doing molecular and biomarker testing, we’re looking for changes in the tumor, we’re looking for what we call somatic mutations, but there is also the second concern where on rare occasion, issues with molecular testing can bring up issues with germline testing, meaning some abnormality that’s found that may impact their own familial risk for cancer, and so that of course requires a lot of thought and careful education as well, in addition to the treatment decision-making that we’re really ordering the test to decide upon.

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What Questions Should Metastatic Breast Cancer Patients Ask Before Starting a Treatment Plan?

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What Questions Should Metastatic Breast Cancer Patients Ask Before Starting a Treatment Plan? from Patient Empowerment Network on Vimeo.

Before metastatic breast cancer treatment begins, it’s important to speak up and ask questions. Expert Dr. Sarah Sammons shares key questions patients should ask to ensure a personalized approach to their care and treatment.

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:

What key questions do you think patients should ask about their proposed treatment plan, to make sure they’re getting the most personalized approach for their disease?

Dr. Sammons:

That’s a great question. So, first and foremost – when you get an initial diagnosis of metastatic breast cancer, it can be nearly debilitating mentally at first, so it’s a little bit hard to be an advocate for yourself.

But it is so important, eventually, to become an advocate for yourself and the first thing that I would say is it’s very important that you have had a biopsy of a metastatic site. So, if something shows up on a scan that looks abnormal – maybe a liver legion or a lung legion – it’s very important that that area is biopsied and checked again for estrogen, progesterone, and HER2. And the reason for that is – there’s a phenomenon called subtype switching. So, a patient can – maybe her early-stage breast cancer was estrogen receptor-positive. There’s a 15 to 20 percent chance that her metastatic disease could be estrogen-negative, and it’s critical that we know what the estrogen and the HER2 are, so that we can treat them with the initial best treatments.

So, that’s number one. I think it’s very important to have a biopsy of your metastatic site, to repeat that estrogen and HER2.

Next, pretty important to have had at least germline BRCA testing. And the reason for that is: We now have drugs, the PARP inhibitors that I talked about before, that specifically benefit patients that have a BRCA mutation.

And then, the next would be – is there a role for next generation sequencing, which is the somatic gene testing of the patient’s tumor.

I would say practice patterns differ. For HER2-positive breast cancer, it’s probably not important to have that upfront because we have a very – it’s critical that we know that you’re HER2-

positive, so that we can give you those best HER2 targeted therapies in the first few lines. But we’re really not going to use that genomic sequencing information for really the first couple of years in metastatic, HER2-positive breast cancer.

For hormone receptor-positive breast cancer, I do think it’s pretty important to know what your genomic testing is – your next generation sequencing is – upfront. If you have an ESR1 mutation, then we know that you’re resistant to certain types of endocrine therapy, and we would not give you them. If you have a PI3-Kinase, then we would give you that if you qualified, otherwise we would give you that drug that targeted the PI3-Kinase mutation probably in the second line.

So, next generation sequencing is pretty important, either in first or second line, in hormone receptor-positive breast cancer.

Triple-negative breast cancer – the most important thing upfront is to know what your PDL1 status is. And it’s very important that if you’re PDL1-positive, you get immunotherapy with your first treatment because we know that immunotherapy, if you get it in later lines of treatment, does not work as well as if you get it in the first line.

So, it’s always really tough for patients to wait a couple weeks to get started on treatment, but as long as your disease is not growing so rapidly that your physician is concerned, which is on the rare end, it’s good to get all your ducks in a row, get all of the information that you need, so that you can be started on the best treatment.

Katherine:

Dr. Sammons, why should patients feel like they should speak up and that they have a voice?

Dr. Sammons:

Patients should feel like they should speak up and have a voice because this is their life. This is your life. This is your treatment. This is – nobody is going to advocate for you as well as yourself. If you’re lucky, you’ll find a physician that is an advocate, and many of us are, but nobody will advocate for you as well as you will advocate for yourself. So, that’s reason number one.

And reason number two would be: we’re all humans. Your doctors are humans. Some physicians, especially physicians in the community, may not only treat breast cancer. They may treat every single type of cancer, and it’s very hard to stay specifically on top of all of the new drugs and new options coming out in every tumor type; it’s virtually impossible.

So, I just think it’s important to be an advocate. Never be afraid to ask a question. Most physicians should not feel threatened by that. We like a patient to be engaged. So, never worry or be fearful about that. 

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

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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.