Educated Patient® Webinar: Empowering Patients to Understand Cancer Genetic Testing and Counseling


View the full CURE® Educated Patient® Webinar: Empowering Patients to Understand Cancer Genetic Testing and Counseling on demand.

Ryan McDonald: [00:00:00] Everyone, and welcome to today's live broadcast, a CURE Educated Patient Webinar, empowering patients to understand cancer genetic testing and counseling. I'm Ryan McDonald, the associate editorial director of CURE. In collaboration with the Partnership to Reduce Cancer in Rhode Island, CURE is pleased to bring you this webcast sponsored by the Rhode Island Department of Health, Women and Infants Hospital, and the Hospital Association of Rhode Island. Before we get started, we have a few important announcements to get to. We encourage you to ask questions during the event, which you can submit by typing them in the Q&A box. You will also be receiving a survey via email tomorrow. As a thank you for watching the full webinar and completing that survey, you will be entered to win one of three Visa gift cards. I would now like to – be pleased to announce we are joined by our moderator, Jennifer Scalia Wilbur, who is the co-director of the Cancer Genetics and Prevention Program, PhD Healthcare Genetics student, and teaching associate in Obstetrics and Gynecology at Warren Alpert Medical School of Brown University; as well as Dr. Ashley Stuckey, gynecologic oncologist and breast surgeon, program director of the Gynecologic Oncology Fellowship, co-director of the Cancer Genetics and Prevention Program, and associate professor of Obstetrics and Gynecology at Warren Alpert Medicine; as well as Marcie Beaston, the senior genetic counselor at Women and Infants Hospital of Rhode Island; and Kathleen Metivier, a patient advocate. Thank you all for joining us today, and I will now pass the discussion off to our moderator to begin the discussion.

Jennifer Scalia: Well, thank you. And first, I want to thank all of you for attending tonight. I want to thank the Partnership, the Rhode Island Department of Health, and CURE for this tremendous opportunity. The field of cancer genetics has dramatically changed over the last five to seven years with major advancements in both genetics and technology that are helping us reach so many more individuals and families that have inherited cancer risk. And although, as you'll learn tonight, it is only about ten to 20% of cancers that are inherited, it's important to realize that this is still accounting for about 65,000 cancers each year. So I'm truly grateful to be able to share with you tonight information about cancer genetic counseling, which you'll see is really a time for individuals to learn about genetic testing, what it could mean for themselves and for their family members. And I want to demonstrate tonight that although cancer genetic testing can feel overwhelming to some, can feel a bit scary for sure, it commonly lends patients and their family members more empowerment over this disease, really giving them the ability to find cancers at early, curable stages, or prevent them altogether. So cancer genetic counseling commonly involves two main visits. The first visit is when we discuss the option of genetic testing with the patient [00:03:00]. A lot of patients do move forward with genetic testing. And so the second visit is when we disclose their test results to them. So we've structured this webinar such that we will talk about the initial visit during the first half of the webinar, and the information and content that we discuss with patients during that visit, and then review and discuss the information about – that's involved in the disclosure visit at the end of the webinar. So we are very fortunate to have here Kathleen, who is a patient of ours, and a patient of Marcie's, actually, who will be sharing pieces of her story with you, so you're able to see this process from a patient's perspective. So Kathleen, I'll start with you. If you could share with us a little bit more about, or a little bit about, your personal and your family history of cancer, that would be great.

Kathleen Metivier: Sure. Well, I was diagnosed with breast cancer at the age of 57 back in 2008, and it was found on a routine mammogram very early in the process. I had surgery following that, and chemotherapy, and radiation. My mother had breast cancer, and she was 63 at the time. And she was receiving hormone replacement therapy back then, which in my mind, really was the cause of her cancer. So I really wasn't concerned about family history or anything at that time. About four years after I was diagnosed with cancer, my uncle, my mother's brother, he was diagnosed with cancer, but we were told that he had stomach cancer at the time, so that was also, I didn't think, related to my cancer in any way. And that was about it. That's the history.

Jennifer Scalia: And so I guess Dr. Stuckey, why would it be important for someone like Kathleen, or someone who has already been diagnosed with cancer, to consider cancer genetic counseling or testing?

Ashley Stuckey: Great question. Thank you. Now, as we are learning so much more about the genetics field and all the mutations that are out there, a lot of cancers that we may have thought initially were sporadic or not linked to a family mutation, we're finding now that these are actually hereditary or genetic. And so it's important not only for the patient, but also for the entire family, in terms of other cancer risks. So we know that a lot of these mutations will also [00:06:00] predispose patients to other cancers, so it's important to have that discussion with them about potentially other preventative measures, like surgery or medications, for other cancers, such as ovarian cancer, or pancreatic cancer, melanoma, some of these other cancers that we may see with these mutations. And it's also important, when we're talking about treatment for breast cancer, a lot of these women may be at higher risk of a second breast cancer, and so that's important in their surgical decision-making because that may change their choices in terms of having a lumpectomy or having a bilateral mastectomy. So that's an important conversation to have. Like I said, it's also really important for the family. We want to define that risk for the other family members. Most of these mutations are inherited from either mom or dad, and there's a 50/50 chance that a child will inherit it from the parent. And so that, as you can imagine, can affect many people in the family, children, nieces, nephews, cousins, et cetera. And so it's important that we identify these mutations early so that we can offer preventative therapy and high-risk screening for these other cancers. And when we're talking about ovarian cancer, it's also very important in terms of targeting our treatments potentially for these patients, and I think we'll probably talk about this down the line a little bit later, too.

Jennifer Scalia: So obviously, very clear that genetic counseling and testing is equally as important for patients, whether or not they've had a diagnosis of cancer, versus a patient who is unaffected with a family history of cancer. So when these patients are identified and are referred to genetic counseling, Marcie, what can they expect from their first visit with you or from their first visit with a genetic counselor?

Marcie Beaston: So in a perfect world, ideally, a patient is able to reach out to family members and gather as much information as possible about the history. We realize that's not always possible. Different people have varying levels of information available, and we work with what the patient has. But that's the start. And before I talk about the actual appointment, which usually takes 30 to 45 minutes, I want to tell you about a cartoon that I saw several years ago. It was a man, a cartoon man, running, and he's looking back behind him. And behind him is this giant strand of DNA. I always have that in my mind when I walk in with a patient, not because I think everyone feels that kind of anxiety or that anyone [00:09:00] should feel that kind of anxiety, but the truth is, some people do. So the first priority at the beginning of the appointment is to sort of calm some of that anxiety. Genetic counselors are trained to use lots of wonderful analogies to help people understand what is very complex information. And the truth is, some people come to the appointment not knowing what a gene is, so we use analogies to help them understand that. We work to dispel misinformation that's out there. For example, as Jen said earlier, most cancer is not hereditary. I often have patients who are surprised by that. The idea that these genes protect us from cancer, and that includes BRCA1 and BRCA2, often comes as a surprise to patients. So those are the things that we start with in the initial consultation. And then of course, we review the personal, medical, and cancer family history. And as I said before, no one knows everything. I've had patients who knew nothing. If you're adopted, you may not have any information about your biologic family. And we can still work with that.

Jennifer Scalia: So you talked about reviewing the cancer family history to kind of understand, is there concern for a genetic mutation that could be causing the cancers that we're seeing in that individual or in that family? Dr. Stuckey, as a physician, I understand that one of your jobs is to identify those individuals who have a higher chance to carry a cancer genetic mutation and be able to refer them over to genetic counseling to get more information about the testing. Can you explain what type of personal or family history warrants cancer genetic counseling and testing and why that is?

Ashley Stuckey: Sure, yeah. So we look at a broad family history. We want to know if the patient has had a prior history of breast cancer, and this is a second breast cancer, so anybody diagnosed with two breast cancers, whether it's at the same time or spaced years apart. We look at the age, so anybody diagnosed at a young age, usually less than 50, with breast cancer; that would be considered higher risk for carrying a mutation. We look at the family, so are there multiple cases of breast cancer, multiple cases of prostate cancer in men diagnosed at an advanced or metastatic stage? Are there pancreatic cancers in the family? Anybody with ovarian cancer in the family? That is also considered high-risk. We look at colon cancer, and gastric cancer, melanoma [00:12:00]. So all of these cancers are associated with many mutations. And then finally, we also want to look at their ancestry. So we do know that people of Ashkenazi or Eastern European descent do have a higher rate of carrying a BRCA mutation, and so those are certainly people that we would also want to get in to see you for counseling. And I don't know if I missed anything. If I missed anything, Marcie, you can chime in.

Marcie Beaston: I think you covered pretty much all of it.

Jennifer Scalia: And can you expand, Dr. Stuckey, on the guidelines that kind of help us, that are established, kind of help us understand this criteria and if this is changing over time?

Ashley Stuckey: Yes. So all of these guidelines and recommendations are coming through an organization that we call the NCCN, which is the – I'm blanking on the name now. The National Comprehensive –

Marcie Beaston: National –

Ashley Stuckey: Cancer Network, thank you, the NCCN, as we refer to it. And this is a group that makes recommendations, and it is updated yearly, at least yearly, sometimes more frequently. And we follow their recommendations for testing, as well as for what to do with the tests in terms of high-risk screening or preventative treatments as well.

Jennifer Scalia: Awesome. Thanks. So Marcie, so you're sitting with your patient during your initial consultation. You're reviewing the family history, and you recognize that this personal or family history meets these NCCN criteria, and the patient is now eligible for cancer genetic testing. Can you talk a little bit about the test or what actually is cancer genetic testing?

Marcie Beaston: Sure. And I just want to say that even for those people who come for genetic counseling and find out they don't meet those criteria, we still have the conversation about the test, so that's important. It can be blood. It can be saliva. Some people are relieved to find out about that. If you have an aversion to having your blood drawn, we can use saliva, so there's no issue there. Once we have a clear picture of the family history, we talk about the scope of the test, and that's a large chunk of the initial consultation and has become much more complex with time. So if you think about, Kathleen, you were diagnosed 2008 or 2009 with breast cancer. Correct me if I'm wrong.

Kathleen Metivier: Correct. Mm-hmm.

Marcie Beaston: And at that time, if Kathleen had pursued genetic testing, she would've been offered BRCA1 and BRCA2 only. We know, from [00:15:00] the test that she had, she does not carry a mutation in BRCA1 or 2, so she would've been negative at that time. She had genetic testing in 2016 when the testing was much broader. But between 2016 and today, the test has grown immensely what we can offer. So by 2016, we were offering panel testing, but it was – for the vast majority of people, it was confined to the types of cancers that we saw in the family history. So Kathleen, I believe, had 15 to 20 genes analyzed with a focus on hereditary breast cancer. If I met with Kathleen for the first time today, I would talk to her about a much, much larger test. She would have the flexibility to narrow it down as much as she wants. But I think today, the vast majority of people end up ordering between 40 and 80 genes. It means the test can include genes that have nothing to do with the cancers that we may see in the family history. So a really important part of our conversation is discussing the recommendations that can come out of the test, based on family and personal medical history, but also, we may find something that we don't expect. We talk carefully about the potential implications, not only for the patient, but also for their family members. There can be a ripple effect in the family that it's important to understand. It's a lot of information. It's so much information. And I always try to remember to tell people, "It's important to hear this. It's important to ask questions, but it is not important to remember the information you're given at the initial consultation." If the patient decides to move forward with genetic testing, they're going to come back for the second appointment to talk about their result, and we'll discuss that in more detail later. But any relevant information that they need to remember, or they're going to hear again at the result, it'll be put in writing. We will share it with their physicians, both in writing and with a phone call, if we feel like that's important. When we're done talking about all of that, the scope of the test, of course, cost is a concern for many people, as I completely understand. Thankfully, even since Kathleen had genetic testing in 2016, getting testing covered is much easier. Most insurance companies cover testing when those national guidelines are met. The guidelines are much [INAUDIBLE] now than they were even two to [00:18:00] three years ago. And I said earlier, we talk about the test regardless of whether guidelines are met. And part of that is because the cost of the test has dropped so much that some people, once hearing about it, even though they don't meet guidelines, and the likelihood of finding something is low, some people choose to self-pay. The maximum is typically $250, and many times, lower than that.

Jennifer Scalia: And I guess I would also comment that these large panel tests are looking at 50, 80 genes at a time. That is an overwhelming number of genes. But the reality is that most people test negative, and that if people do – if we do find a gene mutation in one of these larger panels, it's typically a gene that's related to the concern that we're seeing, the cancers that we're seeing in that person or in that family. And so, OK, so now your patient understands the genetic testing. They understand the cost. They're interested in moving forward with the test. Should they be worried about losing their health insurance? I think discrimination is a confusing topic. And Marcie, could you give us a little bit more information about that?

Marcie Beaston: Sure. The Genetic Information Nondiscrimination Act is a very important part of the conversation, and I typically save it until the end because I don't want it to overshadow the rest of the conversation, but very important. It was established in 2008, and it prevents medical insurance companies and employers from using a positive result to raise premiums, deny coverage, or discriminate in any way. One exception is an employer with fewer than 15 employees. But what's particularly important is that GINA does not apply to life insurance, long-term care, disability insurance. So when a person is moving forward with genetic testing, if they move forward, and then after that, they go out and try to establish or change one of those policies, again, not medical, but life insurance, disability, and long-term care, those companies can legally ask for medical records, and they can use that information. Different people may respond to that information in very different ways, depending on life stage. For example, sometimes, we're testing 20-something-year-olds, and they haven't always thought about life insurance. Maybe they don't even know what life insurance is. So we encourage [00:21:00] them to do some research and make an informed decision for themselves before moving forward. Someone who's more mature maybe has life insurance in place but might need to adjust it years down the road. It's something to think about and possibly get in place before moving forward. And I have had a few patients express concern that their test result might end up in their children's records and would that prevent them from getting life insurance down the road? And the answer to that question is no. The results are protected by HIPAA, its personal health information and so your test result will not end up in your offspring's medical record unless you put it there.

Jennifer Scalia: That's super helpful. So sounds like if I were a patient that was seeing you and I was concerned about life insurance discrimination, I would have the opportunity to make the consultation put in place a life insurance plan, if I chose to. And then feel safe at that point to come back to get the testing done, is that right?

Marcie Beaston: Yes. Obviously, the decision to have the test is not necessarily made the day of the appointment. That's very important for people to understand. It's not now or never. Some people, Gina aside, life insurance aside, some people need the time to just process all of this information because as Jennifer said, it can be overwhelming. Sometimes patients want to discuss the information with a family member or a trusted friend or maybe they just want to take time and those who want to get life insurance in place can do so. I recently had a patient delay and she called she filled out all her paperwork and called and said, "I'm ready" and I put a break on that because I told her, "You have to wait until it's actually in place". So that process can sometimes take months. There's no deadline for moving forward after the initial consultation. We give the patient a phone number to call, they just let us know when they're ready. It's pretty simple with one caveat. I've had patients who called two years later for genetic testing and in that setting, the testing is changing with years, of course. And so with those people, I would say, "All right. We need to just sit down for a brief minute and talk about what has changed with this test so that you can add to it if you want". And some patients, [00:24:00] after hearing all of that, choose to move forward the same day which is fine, they can do that. And so they provide their blood or saliva and they have an appointment to come back for their result visit before they leave.

Jennifer Scalia: So it sounds like a lot of patients can come in for that initial consultation, they can get the information, some people might be ready, and move forward with testing at the end of that visit. But as you spoke about the testing information, can be a lot and so patients do have that opportunity to step away process it, and be sure that this is something that they want to move forward with. So Kathleen, I know it's been a long time since you initially met with Marcie. I think we talked about 2016 or something but do you remember what that first visit was like for you?

Kathleen Metivier: Well, as Marcie said, she tells us that you can have a blood test and I really was totally in the dark as to how do you go about doing genetic testing so I said, "Oh, OK". And then I remember her also saying that a lot of people choose not to go forward with the testing, after the counseling session. Now, I remember thinking and I remember saying to Marcie, "Well, why wouldn't I want to know?" For me, it was important and I wanted to find out what the story was for me. It was not something that I wanted to put off at all. I wanted to find out and I was also, once I was there, originally, I was surprised that my oncologist suggested it because I had already been – It was already eight years after my initial diagnosis and I remember wondering at the time, "Why should I get genetic testing?" and the answer was, "Because it could affect your treatment plan, how we monitor you". And so, I didn't really know exactly what that included but then, of course, I found out later what that meant, what testing.

Jennifer Scalia: And did you choose to move forward with the genetic testing?

Kathleen Metivier: Yes. Right away, I did. I told her, "Yes, I want it. No doubt about it".

Jennifer Scalia: You were sure. And so you just went through the testing and then you returned back to see Marcie to review those test results?

Kathleen Metivier: Yes.

Jennifer Scalia: I guess Marcie, do you want to expand a little bit on what's involved in general in that post-test disclosure visit and maybe how things turned out for Kathleen? [00:27:00]

Marcie Beaston: Sure. So by the time we meet for the post-test counseling, we've had a chance to look at the result, interpret it at face value, and then we look at the patient's personal history and family history, and we relate the result to what we're seeing. When I was thinking about calling Kathleen to invite her to do this webinar, I reviewed the notes that I've written over the past, what six years now, five years. And in the initial consultation, I wrote based on the personal and family history, I think the likelihood of a hereditary explanation for this history is low. So I did not expect Kathleen's result to be positive but in fact, it was, a mutation was identified in a gene called PALBI 2 which does explain Kathleen's history and her family history. It's a novel but high-risk breast cancer-related gene. In general, at these appointments, we talk about what we know about the specific gene and the cancers that it's associated with and we make recommendations to reduce that risk. So that's the ultimate goal of genetic testing, that's the reason to do it to identify increased risk if it's present in order to change medical management in ways that reduce risk. We use the National Comprehensive Cancer Network guidelines to guide our recommendations to the extent that we can. Some of these novel genes, there's so much research out there happening now, and so many people worldwide are getting genetic testing so the information is growing at such a rapid rate which is a good thing. But it means, when there's a positive result, there needs to be a relationship between the genetic counselor and the patient and I'm so grateful Kathleen that you come back every year. As the information grows about these specific genes, the medical management recommendations have to evolve with that information. And that yearly follow-up allows us the chance to research actually. Before I meet with a patient for a yearly follow-up, I go and look and see what's new, what research, what is the research showing now. And we check those in NCCN guidelines and make sure each patient has the most up-to-date information about whatever was found.

Jennifer Scalia: So sounds like when people get these positive results, they're presented with a lot of information, a lot of information about now [00:30:00] having other risks for other cancers that now need management. These patients that you see, Marcie, I know you give the test results to them, explain the management recommendations, and then refer those patients back to their physician or to a specialist to implement that regimen. Dr. Stuckey, can you expand a little bit more on some of the screening and risk-reducing options you discuss or implement with the patients that then you see who come to you with testing positive for some of these gene mutations?

Ashley Stuckey: Yes, so I will typically go over the genetic counseling summary with the patient. And a lot of times, because that visit is oftentimes overwhelming with all the information that they're receiving, it's helpful to hear it again so we go over that. And then we look at specifically what mutation they have and what their risks are so some mutations increase the risk of colon cancer at younger ages. So we may talk about referring them to a gastroenterologist to start colonoscopy screenings, younger than the typical age and oftentimes more frequently every one to two years. For those genes that increase the risk of breast cancer, we will talk about a couple of options. One is to do what we call high-risk screening which means we want to not only do a mammogram once a year on patients but also add an MRI. Typically, we will space these out six months apart. And depending on the mutation, some of the fine details of that differ but in general, for BRCA mutation carriers, we'll start MRI screening at age 25 and that's done every year. When the patient then turns 30, we will start alternating MRI and mammogram. And the goal is really at that point to if a patient is going to develop a cancer to find it very early where it's curable. The other option we'll talk about is prophylactic or preventative mastectomy which means removing the breasts with the option of reconstruction if a patient desires. This is certainly never a requirement but something we talk about in the patient, I think it's important that the patients know that they have options. They can either do the high-risk screening and/or for those mutations that have a much higher risk of a breast cancer, they have that option of bilateral prophylactic mastectomy as well. One of the important things I think that we're also learning is we can now, for those women who are interested in having children in the future, who may not have completed their family, we are now able to with the help of our reproductive infertility colleagues. We are able to allow those patients to go through basically a cycle of in vitro fertilization. [00:33:00] And then if desired by the patient they can be guaranteed to have a child without a mutation, if that's something that's important to them. So we've really seen a lot of advances um in this field. The medical term for this in case people have heard about it is called, "Pre-implantation Genetic Diagnosis" but this is also something that we'll talk to our patients about. And then in younger patients who are not actively trying to have a family, we will also talk to them about taking birth control pills because this has been shown over time to much decrease their risk of future ovarian cancer. With respect to the risk of ovarian cancer, we can't screen for ovarian cancer. It's very hard to screen for ovarian cancers because we don't have good tests. We have great tests to screen for breast cancer with the mammograms and the MRIs but this is not the case for ovarian cancer, unfortunately. And so most ovarian cancers will be detected and diagnosed at a later stage where it's not curable. So because of that, we do follow the NCCN guidelines and discuss preventative or prophylactic removal of both the fallopian tubes and the ovaries at a much earlier age so that these patients never develop ovarian cancer. And that age, depending on the mutation, is usually somewhere between ages 35 and 45.

Jennifer Scalia: And so I know a lot of my patient – Thank you. That was great information. I know a lot of my patients get concerned about when they do test positive and then or when they're thinking about testing. Say, thinking, "Gosh. If I have this mutation and I need to have some of these screenings or if I might contemplate as prophylactic procedure, is my insurance going to cover this?" Do you have information about that at all, Dr. Stuckey?

Ashley Stuckey: Yes. In general, the insurance should cover the plastic surgery reconstruction part aside from deductibles which is different for every insurance plan. The insurance should cover the prophylactic surgery and the reconstruction. The insurance should also cover the screenings of the MRIs and the mammograms, if that's the road the patient goes down instead of prophylactic surgery so yes. In terms of the pre-implantation genetic diagnosis, oftentimes that is not covered by insurance so I think it's often state-dependent and that can be expensive which unfortunately can be a barrier to a lot of people.

Jennifer Scalia: So it sounds like in terms of prophylactic procedures that these patients many more will choose at the proper age to move forward with a prophylactic oophorectomy or having their ovaries removed to reduce the risk of ovary cancer. As we know that can be a life-saving [00:36:00] procedure versus prophylactic inventively removing the breasts as a double mastectomy, is that right?

Ashley Stuckey: Yes, I think in general, the majority of people do end up having their fallopian tubes and ovaries removed preventatively. And I think the other choice is more personal in terms of removing the breasts versus just screening with MRI and mammogram. And I think that is honestly split and a good probably 50/50. Some women choose to have a prophylactic mastectomy and some women choose just to screen and either option is perfectly acceptable.

Jennifer Scalia: And I imagine that's a very – Well, they're all very big decisions. The contemplating of bilateral mastectomy is a very big choice to or decision to make. So I imagine it takes a lot of time for patients to meet with you even a plastic surgeon to really make sure they're making the best decision that's right for them.

Ashley Stuckey: And I think we've come a long way in our surgical techniques. We are now able to do what we call nipple-sparing mastectomies where we leave the skin in the nipple and just remove the breast tissue followed by reconstruction with a plastic surgeon. So that leaves a much more cosmetically favorable outcome than a traditional mastectomy.

Marcie Beaston: I think in another – Thinking about insurance coverage, that's one of the things when I have yearly follow-ups with patients, I often ask if they've had any difficulty getting the extra screening or other things covered. And in general, I think in the last few years, I'm not hearing any difficulties as far as extra colonoscopies or early colonoscopies. That genetic test result has a lot of meaning.

Jennifer Scalia: That's great and I find this in my practice as well. I can't even think of a patient who's ever had, come back to me, and said, "I have problems getting this covered or moving forward" which is terrific. So in thinking about these gene mutations, we know that the vast majority are ancient mutations, right. So these gene mutations happen hundreds and hundreds of years ago for reasons we don't understand. And as Dr. Stuckey mentioned earlier, they're equally going to travel down either through the patient's maternal line or through the patient's paternal or father's line. When a patient does test positive like Kathleen, it's important and strongly encouraged for that patient to share this information and disseminate it to other family members because we know that they are also now at risk to inherit this mutation. Marcie, I just wanted to ask you, can you explain to us [00:39:00] how a mutation of family can affect other relatives and how you handle this with your positive results?

Marcie Beaston: Yes. This is the ripple effect that I had mentioned earlier on an individual's children. If the result is positive the children have a 50% chance of being positive, the same is true for siblings and parents. So we'd like to start by figuring out from which side the mutation came so if we can test a parent, that's ideal then we can direct testing even further out. The benefit in family testing is that those individuals who are negative, experience great relief, I imagine. They don't need the types of screenings that they would need with a positive result and sometimes can just do screening based on average risk. And the other thing to know is that these mutations don't skip generations so if an individual – Once a mutation is identified in a family, if an individual is negative, that person's children, grandchildren, great-grandchildren can't inherit the mutation.

Jennifer Scalia: And you bring up a great point. When we find a gene mutation in a family, for most, if not, not all but most of these, very high penetrant high-risk gene mutations, they're not – Well, we know they're not everyone in that family is going to inherit that mutation and so those that don't, we can bring back to general population risk. And so what a relief for those patients that have been worrying or watching all of these family members be diagnosed with cancer. And then finally, understanding why the cancer is happening and not inheriting that. Yes, like you pointed out, I can imagine what a relief that is. And so I guess Kathleen brings me to you because as we spoke before and I learned that after you found out that you were probably too positive, you've worked very hard to share this information with your family members. And you've been a tremendous advocate for them. Can you share with the audience just a little bit about how you spoke to your relatives and how you felt about that and how things unraveled in your family in that regard?

Kathleen Metivier: Sure. Well, Marcie offered me a letter that I could mail to my family if I wasn't comfortable talking to them but I didn't have that problem. I have three sisters and I was able to immediately communicate with all of them and then I have [00:42:00] several cousins and I've been communicating with them and they've been all sharing it with each other. So it's – there was not a problem in getting the word out and so most of – a good part of my family have all been tested. A couple of them are dragging their [AUDIO SKIPS] they keep saying they're working on it. But one of the things that was really interesting was, when I met with Marcie and she told me that I had this mutation, it was almost like relief in a way to know why this happened to me because you kind of think, well could I have done something differently? Could I have – my diet or my environment, so I knew that. Then also, Marcie also told me about a study that was going on about ovarian cancer, which led me to do more research on that because my risk was higher for – I already had breast cancer and I knew about that of course. Then – but my risk was higher than the general population for ovarian cancer and pancreatic cancer. That led me to do more research and consult with Dana Faber about possibly getting into the study and trying to get my uncle's records because there was a lot of confusion in my family as to whether he died of stomach cancer or pancreatic cancer. I guess originally, they told him that he had stomach cancer, which of course is not related to PALB2. But I wound up having to – I wasn't able to get his medical records at all, even though my aunt, his wife, widow signed the release to have the records go to Dana Faber. But anyway, I wound up having to write to Massachusetts to get his death certificate, which on the death certificate it specifically says pancreatic cancer. So we all know the risk of that. I'm just trying to think if there was anything else I wanted to mention. Because of testing positive for the mutation, I – as Dr. Stuckey mentioned, I do get screened for breast cancer every six months. MRI, followed by mammogram. I did opt to have my ovaries removed as a preventative screening. I mean prevention of that – getting that cancer because, as was mentioned, there's no test for that. By the time I would have symptoms, it would be too late to save me. So I decided to have my ovaries removed. That was another journey, which I'm sure [00:45:00] we don't have a lot of time to talk about.

Marcie Beaston: You have taken upon yourself though to educate yourself and make decisions for yourself that you knew were right for you. I think that's important.

Kathleen Metivier: Right. That's very true. But if I didn't know about the mutation, I wouldn't know about the higher risk of the ovarian cancer or the pancreatic cancer of course. But I think it was a positive thing for me and for all the family members, that I was able to find out that I had the mutation.

Jennifer Scalia: Well it sounds like it's been a long journey for you and that this information definitely has been amazingly empowering and has made some big differences for you and your family members. I imagine some of your family members were positive and some have been negative and so those that obviously have learned that they have this PALB2 mutation can also take charge like you did and be able to move forward with screenings that could be lifesaving or find these cancers early. Then I think it was one of your sisters who tested negative who could be completely relived. Was that right? One of your sisters?

Kathleen Metivier: Yes. We mentioned – I forgot to mention that. One of my sisters found out that she was negative for the mutation and it was really quite a relief to her daughter because once her daughter found out that I had breast cancer and her grandmother had breast cancer, she was very nervous about that, understandably. Now she doesn't have to worry about it because her mother is negative for the mutation. In only one, one of my cousins about a year ago has, she's in her 50's and she has breast cancer and two others have tested positive for the mutation and then I think three of them are negative for the mutation.

Jennifer Scalia: Wow, you've done a lot of work. It's going to be a big difference in your family, which is awesome, which is not easy to do. I'll tell I've worked with a lot of families and to disseminate information like that can be challenging. I see a lot of questions coming in, I want to make sure that we get to all the questions from the audience. I'm going to just wrap up with one last question to Marcie that I just think is important to mention. We focused so much today on testing positive and getting a positive result and what that would mean. I just want to ask you [00:48:00] Marcie just quickly, if your patient you meet with, they test negative. There's no mutation in the family. There's no explanation for the cancer. Can you just talk a little bit about that and is there still reason to even come back to see the genetic counselor at that point?

Marcie Beaston: Yes, and I actually have had multiple patients ask, why do I even need to have this appointment? My result is negative. That is most patients by the way, most results are negative. When we get that negative result, what we're going to do is look at the family history, which [INAUDIBLE] by the test result. We're going to make recommendations based on what we see in the family history. For example, if there's a history of breast cancer, we're going to use that along with the patients personal medical history to calculate their lifetime risk for breast cancer and make recommendations based on that. We also make recommendations for other family members to have testing. Why is that important? A negative test result when there's no mutation identified in a family means maybe there's no hereditary explanation for the history or it could be that there is a hereditary explanation but the individual that we tested didn't inherit it. So we always make recommendations for other family members as well. So that result visit is very important, whether positive of negative.

Jennifer Scalia: Thank you. So positive or negative, coming back to get that information sounds pretty critical. So thank you all. I want – there's a lot of questions that I want to make sure that I address from the audience, but that was a terrific discussion about genetic counseling and testing in general. The first question is, can someone comment on some of the commercial genetic testing that's now available and some of the pitfalls to this testing? So I believe that this is probably referring to the many new direct to consumer tests that are now are available. Do Dr. Stucky or Marcie want to take that?

Marcie Beaston: I'll address it. First of all, we would – these tests will sometimes will claim to have tested for BRCA for example, and a patient may come with the result from one of these companies and a negative BRCA result, thinking they've had genetic testing for BRCA. When in reality those test only look at three specific mutations, which are very common in eastern European Jewish populations. So that's one thing. Even then if we have a – one of those tests that indicates that there's an increased risk for cancer, we're going to retest through one of our CLIA approved [00:51:00] laboratories just to confirm. Those tests are not designed to make medical management recommendations from. Anybody got anything else to add?

Jennifer Scalia: I think the direct to consumer testing is going to become much more popular and more available and definitely is confusing. I think there's the ancestry piece but then there's also this medical piece that people can purchase. But I do – I would comment that there are patients that have come into our clinic with direct to consumer tests that look like they are positive for a genetic hereditary condition, when in fact, like Marcie points out, you retest them in a clinically approved lab because of the testing process, the technology, the way that test is run is very different in a clinically approved lab. That those patients sometimes are negative for that. It's very, very important that if you have any type of finding in direct to consumer, you talk to your doctor or a specialist about that finding to make sure that it's interpreted properly. That's a good question. The next question is, is my insurance going to see genetic testing as a preexisting condition?

Marcie Beaston: So that's protection from the Genetic Information Nondiscrimination Act. Medical insurance companies cannot use the information to raise premiums or deny coverage. Again, not in place with regard to life insurance but medical insurance, you're good.

Jennifer Scalia: Any other comments on that? It's pretty straightforward. Here's a great question, what is the appropriate age to discuss genetic testing with children?

Marcie Beaston: I think every parent knows his or her children and when the conversation happens is really dependent more on the child. I know one of our medical oncologists had the child of one of his patients actually publish a book he had written and this was, don't think he was 10 years old at the time, had an illustrated – a beautiful story of his experience going through breast cancer with his mother. They have to deal with difficult subjects, these difficult topics. We don't test children except in very rare situations so at 18 is when they can consent to test but sometimes people have children who know and they're very concerned and [00:54:00] I leave it up to the parents. Sometimes children, and when I say children I mean 12, 13, 14, I've had conversations with those kids to answer questions if the information causes an anxiety. But it's totally up to the parent.

Jennifer Scalia: I think in general, these mostly hereditary conditions are adult onset conditions and so we can be reassuring to those parents that children typically are not at risk so testing them and knowing their carrier status will not make a medical difference for them until, it depends on the gene of course, but 20's, 30's, or 40's. This is another good question, what if – what if one does not know all of the family history that is being asked on the forms?

Marcie Beaston: I have had patients who knew nothing, zero, except personal medical history so we work with what we can get.

Jennifer Scalia: Yes and I think – I hear that question from my patients and I think that should not be a deterrent at all. I think that, like Marcie said, some people are adopted, some people have no information and the testing is such that it's so broad right now that even without family history, there's just so much information that patients can get from having these large panel tests and that they're able to get tested for genes related to any type of hereditary cancer. So really understanding your family history is not as critical now as it was in the past in terms of trying to choose the right type of genetic testing. So if I had genetic testing before, should I still meet with a genetic counselor again?

Marcie Beaston: I would say definitely. Kathleen, I'm going to bring your story into this. Again, she was diagnosed in 2009 and I think, correct me if I'm wrong, but I think a doctor recommended you have testing several years before you underwent genetic testing. So Kathleen would have tested negative in her initial test. The test that she ultimately had in 2016 was significantly bigger than what she would have had and the implications are much different. So I think it's important to understand all of that.

Jennifer Scalia: Yes, things have changed quite a bit so checking in is probably a – definitely a good idea to make sure you've had the right testing and everything is up to date. This next question kind of speaks to the [00:57:00] guidelines that were discussed in regards to being referred to genetics. The question is, to refer to genetic counseling, does a familial cancer have to be with a mother, father, brother, or sister?

Marcie Beaston: No. Three generations, so nieces, nephews, aunts, uncles, cousins, great grandparents, great aunts/uncles. Sometimes those people that are – may seem very far out but those are – history there can actually meet criteria for genetic testing when those relatives closer to the individual don't meet criteria without that distant history.

Jennifer Scalia: So isn't it that if you have one grandmother with ovarian cancer, that's it? Will that meet testing criteria?

Marcie Beaston: Yes, one first or second degree relative diagnosed with ovarian cancer.

Jennifer Scalia: So it doesn't take much. If you're concerned, I think you can always talk to your doctor or reach out to a genetic specialist. There's a resource page that's part of CURE that individuals can access that will be able to get you in contact with any type of cancer genetic counselor in your area. So it's a great resource to find someone to talk to or to make an appointment with if you have questions or would like to schedule an appointment. So what, if any, connection is there between genetic testing and biomarkers and how can that help with treatment? So it's probably for you Dr. Stuckey.

Ashley Stuckey: Yes, I don't know that I would say there's a connection with biomarkers but we do know that women with BRCA mutations do respond exceptionally well to a new class of medications called PARP inhibitors. So that's why it's so important that anybody with ovarian cancer get tested for the BRCA mutation really immediately at diagnosis because the new data is recommending it and guiding us to start these PARP inhibitors right after they have completed chemotherapy. It's important to know that upfront because these newer targeted agents can really have a large impact in how a patient will ultimately do with ovarian cancer if they have the BRCA mutation.

Jennifer Scalia: It's a very new and exciting area of genetics for sure. That now we're able to really use genetics to more effectively treat different cancers. That's a – definitely a new [01:00:00] place that I think is emerging quickly and is very exciting in helping a lot of patients who've been diagnosed with cancer. When tested, is it just one type of gene or does one test cover it all?

Marcie Beaston: The test focuses only on cancer. The test that we offer focuses only on cancer. Multiple genes. When I mentioned earlier, most people choose between 40 and 84, those are genes and gene is associated with different types of cancers, so no. The cost of the test is actually the same regardless of the number of genes analyzed. Does that answer the question?

Jennifer Scalia: Yes I think so. I think we are so lucky now to be able to offer these large tests looking at really all of the genes related to any type of hereditary cancer, as it can give patients and families so much more information than we ever have been able to provide for them. It looks like we're unfortunately out of time. I guess does any of the panelists have any quick last things they want to mention or say before we wrap up?

Kathleen Metivier: No.

Marcie Beaston: Just that there's a good link Jennifer mentioned in the resource page at the National Society of Genetic Counseling, If you have learned through this webinar or maybe you already knew genetic counseling might be a good idea for your genetic testing even, you can find a genetic counselor in the area in which you live.

Ashley Stuckey: And I would just [CROSSTALK]

Jennifer Scalia: Thanks so much [CROSSTALK]

Ashely Stuckey: I would just say for patients to be advocates for them self and if they have any concern about their family history, to ask their doctor to refer them to a genetic specialist to consider testing. Don't wait for your doctor to ask you.

Jennifer Scalia: That's a great message. A good message to end on. Well thank you all and if you'd like to watch this webinar again, it will be available in a couple days on the Webinars on Demand page of I want to thank our panelists and the audience for attending and participating in todays event. I would also like to thank again, CURE and the Partnership to Reduce Cancer in Rhode Island, as well as our sponsors, The Rhode Island Department of Health, Women, and Infants, and the Hospital Association of Rhode Island for making today's educational webcast possible. Don't forget to check your email tomorrow for the survey to be entered to win the gift card. Thank you so much for joining us this evening and we'll see you next time. [01:02:58]

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