 Hi, this is Jane. Thank you so much for attending today. I am a cancer genetic counselor at Riverview Medical Center and today I wanted to cover the various aspects of genetic counseling and genetic testing. I want to know why people come to me, the many misconceptions about genetic testing, and also the questions that people will have about the genetic testing concerning insurance that's the biggest question that I normally get. I graduated from Sarah Lawrence College. I have 27 years experience as a counselor, I am board certified, and I am also licensed by the New Jersey Board of Medical Examiner so those are my credentials. What I would like to do today is go over, as I said, the various aspects of genetic counseling, genetic testing, why people are sent the misconceptions and some of the questions that people have about genetics. Some of the questions and misconceptions would be why do I need to do this. Why do I want to know about something that I can't do anything about because many people feel that once you find out you're positive that there's nothing available to you. I want to show you that that's not true. I've already got cancer. I know it's hereditary or what is the point of testing. Now, I'm going to show you the difference between hereditary and sporadic cancer. I'm already doing my screening for either colon or mammographies for breast. This may have an impact on your family history or personal history if you do genetic testing. So the questions, as I said before, our insurance won't pay for this or my insurance will get canceled. So we'll go over all of those different things. Next slide. First thing I want to show is the difference between genetic and hereditary. All cancer is genetic, but not all cancer is hereditary. So this picture here is showing sporadic cancer, hereditary cancer, the mechanisms behind them. So let's start with the top row. With sporadic cancer, you start off, you're made of a trillion cells, you're going to have two good copies of all of your genes. But then throughout your life, you're going to have different exposures that are going to be damaging your DNA. 99% of those things we don't know what they are, but we do know that they cause damage and most of the time they get fixed. But we do accumulate mutations over our lifetime. So in the second cluster of cells, what you're seeing is one copy is damaged and one copy is okay. Right at that point, you'd still be all right. As long as one copy is working, things are going good. The third cluster of cells you see that there may have been an exposure that took out that second copy. Now you've got a cell that's not doing what it's supposed to do because that's second that pair of genes isn't doing its job. Once one of the copies gets fixed, that cell has the potential to start multiplying out of control and turning into a cancer. Sporadic cancer happens 90% of the time when someone has a diagnosis of cancer. It is not hereditary. But as you can see it is genetic because the genetic material is being damaged, but this kind of cancer sporadic, it does not have the potential to be passed on to the next generation. With hereditary cancer, you start off with the original cell used to make you had a mistake. I need that copy in order to keep, I need to copy that cell in order to keep building you so in that situation you will wind up with being still made of a trillion cells, but now every one of them has one copy of the gene that doesn't work. The bottom part, bottom cluster with the first cluster of cells, that's a bigger target than the cluster of cells up at the top. So you have more of a possibility of getting to the same endpoint for that second copy to get damaged. And it usually happens in less time because there are more more cells that can be damaged with that second copy. Next. Let's start with some of the questions. Why do I need to do this. Well, actually, you don't need to and you're not required to genetic testing is very personal. It's not like many people say oh it's just a blood test just do it. If you come back with results that are positive, or even if you come back with tested or negative because you don't get the answer you may be looking for. It's going to disrupt your life, it's going to change your life, it's going to change your lifestyle. All right, but if you do identify a genetic mutation, it can also lead to interventions that can try to prevent that cancer or can try to lessen the chances of that cancer happening. There may be specialized surveillance, there may be surgical interventions, and even some medications that can be given to lower your risk of some of the cancers. And it can also help to detect a cancer while it's either still curable or it's very early stages so you have more options on what to do about it. The testing can also provide information for your family. If you test positive you're going to have a number of people that are closely related to you that may also be positive for that same mutation. You can give them the same opportunities for the different protocols that are in place. I've also found that the results can alleviate the uncertainty or anxiety in a family. If you have a number of people with the same kind of cancer. Again you're going to think it's hereditary or again you're going to think oh I'm definitely going to get this. If you're tested and you're positive, it can give you more control over what you're going to do. If you're tested in your negative, all of the cancers that may go with the gene. You're now back to being the same risk as other people in the population. I've also found that patients are more likely to follow the screening recommendations that are given to them. If you're busy, you have to go for your mammogram or you have to go for your colonoscopy you're going to say oh you know what I'm feeling fine I'll just wait a few months or I'll skip it this year. If you know you have a gene mutation and your risks are going to be considerably higher than the general population. People are more likely to say I'll make time for this and I'll do what I need to do. Next. Why would I want to know about something that I can't do anything about. When you have genetic testing before a gene can be put on any kind of a testing panel. There has to be something in place for you to follow up, you have to be able to do something about it whether there's a surgical treatment or just a surveillance that's put in place. That being said we have various guidelines that are in place for us to follow the biggest one would be the nccn guidelines that stands for national comprehensive cancer network. That is pretty much the Bible for any of the oncology specialists that deal with patients. These guidelines have major recommendations that are followed they are updated usually every six months there are a bunch of different specialists that get together, and they decide what's new what literature has come out what studies have proven this or have unproven that. The guidelines are for many different types of cancer, many different sites that cancer can happen, and they will go over what you're going to be doing a very specifically. What age do you start surveillance how often do you do it, what is or what surgeries or medications are available for us to be treated for certain things. Next. These next two slides are not really meant for you to be able to read them they're too small and they're very busy but I just wanted to give you an idea of what the guidelines actually look like. These two pages are actually for Brock a one or Brock a two people that are positive. And what it's going to do is actually show you what ages, you're supposed to start things the next grouping goes into what surgeries or what different treatments can be offered to you. This page that you're seeing here, they actually go in for Brock a one and two about what to do for men what to do with reproduction. And that will have an effect on someone's life so we want to make sure that they have very specific things that can guide them in in their care. This same information on the ncc and guidelines is available on many different sites that cancer can occur. So you're going to get some of them actually have four or five pages of things that you're going to be following. This is something that I want to preface for the next question which about I'm already screening for already have cancer. This is a panel of genes, it's a lab called myriad genetics, and I wanted to show you what's available. And I want to show you to why testing for multiple genes becomes important. If you look down the left hand side that's the name of the gene that we'd be looking at. And if you go across, it shows you what cancers are associated with those particular genes. So as you can see, one cancer can have multiple genes that can be responsible for it, and one gene can have multiple cancers that that gene can cause. So I'm going to combine the answers because we are all doing what we're well we all should be doing what we're supposed to be doing which is colonoscopy which they've moved down now to 45 years old, instead of 50. And mammogram starts at 40 unless there's a reason for you to do it at an earlier age. What people don't know is, as I said one gene can be responsible for many different organ systems. So, while you may be diligent in what you're doing, you have a family history of colon cancer you're doing your colonoscopies every so many years. What you may not realize is if you have a gene mutation, you maybe have cancers that for the stomach or the ovaries or the uterus, you're not doing screening for that. If you're testing and you find that you're positive, you would then have those particular surveillance is implemented. If you're tested and you find out you're negative, then you would go back to doing the screening that you were doing all along. The point is, is that you're not screening for other cancers you may be at risk for simply because you don't need know that you need to do that. If a person is diagnosed and they are positive. We also know that the outcomes are better because of the improved proven medical interventions. So you would have certain surgeries that we know help that help to lessen the recurrence of the cancer or help to lessen a cancer occurring in the first place. We also know that various chemotherapy protocols. Some protocols work better if you're actually positive. Other protocols work better if you're negative. So, having that information will keep us from having to do the trial and error for chemotherapy you won't be given something that they know isn't going to be super effective for you. Next. All right, insurance isn't going to pay this is the big one. I'm going to do this and I'm going to be stuck with this huge bill or my insurance is going to get canceled. So, most, if not all insurances are going to pay for genetic counseling and they are going to pay for the testing. The thing is, is that there is a criteria that the insurance companies are going to follow. As I said before, 90% of cancers are not inherited so it comes down to money. The insurances do not want to pay for 100 people to get tested when only 10 of them are going to be positive. So they have a certain criteria they want to see a certain number of people with cancer they want to see a certain number of people at a certain age and how you're related to those people. Those criteria are usually taken from the ncc and guidelines so if you meet those guidelines, your insurance is likely going to pay. The lab that we use. So just so you also know there are two bills that are generated one is for the counseling and one is for the laboratory that we use. So the lab that we use will also contact a patient, if the cost to them, even using their insurance is going to be more than $250. They will contact them and say, do you want to continue using your insurance and then whatever the cost is goes towards your deductible, or do you want to pay 250 out of pocket not use your insurance, and that 250 just not go towards your deductible. No matter whether you use your insurance or you pay the 250, you are getting the same genes the same panels, everything is exactly the same no matter how you do it. Any insurance that the lab is considered out of network for they are going to ignore your restrictions you're deductible you're out of pocket and they are going to adjust your bill at the end, and you're going to get charged $100 for the genetic testing portion of it. The thing also to keep in mind is anyone can get genetic testing you don't have to meet a criteria you don't have to have a family or a personal history you may have. Just a willingness to know what's going on. In that case, you would be able to pay 250 you wouldn't use your insurance because we know you're not going to be covered, you pay the 250 you get the same testing that was done if you did meet a criteria. If you're not meeting criteria. It's very likely you're going to be negative. That's the reason the criterias are there. They're there because we've found that if people meet the criteria, they have a high probability of being positive. If they don't meet it, it's very unlikely that they will be, but you are still allowed to get tested if that's something that you want to do. Next. The genetic counseling bill. That's something that is billed through the hospital that you would go to we see people at three different sites I'm at Riverview so the billing goes through Riverview Medical Center. My hack and sac meridian is in network for many insurances if we're in network for you, the billing would go just like it does for anything else that you have done here you would have to meet your deductibles you're out of pocket, otherwise the cost would be responsible, your responsibility. If it's out of network, then the cost for the entire session would be the patient's responsibility so just make sure that you are that we're in network before you, you come for the appointment. Now for patients with Medicare, that's a special situation that's been set up. The laboratory we use it's called in vitae, they are presently testing patients and they are not charging them. So that cost would be zero. The hospital is also not charging. We have an arrangement with them because of the particular code that was picked. So your co pay or the cost of the session. There's no charge for that so basically if you have Medicare, the testing and the counseling would be free. Moving into insurance discrimination or getting things canceled. There are several federal laws that have been put into effect. We've got them listed Gina HIPAA and American Disabilities Act. The Gina law is genetic information nondiscrimination act. All of these laws are there to prevent medical insurance companies from obtaining genetic information about you without your consent, or if they do happen to get it to be to not be able to use it to set your premiums. You have to be careful when you are signing a consent form for information to go somewhere. Genetic information along with psychiatric and sexually transmitted diseases that is supposed to be kept in a separate part of your chart. When you have any MR and electronic medical record. Everything is kind of together you can click in anywhere you want to go. It's not really separated anymore but when you sign a consent, and you sign a blanket consent, it is not supposed to include your genetic information. The informs are supposed to have a separate spot for you to check that off. If you want to make sure that it's not going to have something get sent that shouldn't get sent. You can scribble it out cover it up so that everybody knows you do not want your genetic information being sent. Your information is only as safe as the people who are taking care of it so just be careful when you're signing different consent forms that your genetic information is not going to be sent if you don't want it to be. Right next. That's a little bit different and long term disability insurance. The states are the ones that usually will put laws in effect to try and protect you against discrimination or premium costs being elevated because of your situation. However, when you're filling out the application, you may get the question, do you have a genetic condition in your family, and have you been tested for it. Not to ask that question, you do need to answer it. Honestly, or then they can deny you because of fraud, but keep in mind that just because you have a number of people in your family with a cancer, a similar cancer. It does not mean it's genetic. You don't have to answer that question yes, unless someone has been clinically diagnosed with a genetic condition, or you have been tested and you have a positive result. You may not have a genetic condition in your family, you can answer that question no. Now, while they are allowed to, they're not allowed to discriminate based on the state laws, they can outright deny you for different things that you may have in your family. Now they may not deny you because you have a genetic condition but they may deny you because you have a particular cancer, or you have a particular medical situation. Okay, but just keeping in mind that the costs and the reasons they're denying you may not be the same situation. If you have a life insurance policy or a long term disability policy that is already in effect, and you are not required by that policy to update them on an annual basis or whatever timing they may give you. You may not need to update them on your genetic information. So it's a case of don't ask, don't tell. If they do require you to do it every year, then you would need to tell them that while I've been tested for this and I have come back positive. It also is in your, it's a benefit to you if you do have to update it and you get tested in your negative to tell them hey I'm also negative so that should help help with the policy that you have an effect. So what you could do is probably possibly talk to a broker they're the ones that would be able to tell you whether or not there is an issue concerning a genetic condition, mostly because a lot of insurances will sell in one state but they're based in another state. And I am completely unfamiliar with if you have somebody that's located in Oklahoma, but they're selling insurance in New Jersey, which laws are they going by, are you protected by the laws in Oklahoma or you protected by the laws in New Jersey. All right, so let's talk a little bit about what's going to happen in a genetic counseling session I'll have many people who say I have no idea what's going to go on here. So what I'm going to be doing is first I'm going to take a information on you. I would talk about your mammographies any biopsies that you've had if you've done your colonoscopy how many children you have different things like that to do an intake on on the individual. And then I do a three generation family history we're going to do your, your siblings your mom your dad and uncles grandparents and your cousins to help with this when you do the scheduling. You're usually sent paperwork to help get all that information in one place. So the paperwork for the family history is a grid and it has all the different generations and all the different people, and you just plug in all the different people if they have a cancer how old they are different things like that. It helps you to get the information together, because many people cannot talk about their family, just off the top of their head. And then we're going to do a mini genetics 101 class I'm going to go over what DNA is how cancers happen. In fact, that picture that I used in the beginning that's in my session, and also the testing process and what genes you're you're going to test for next. Alright, so remember this slide. This one shows this 25 gene panel. We have panels that go anywhere from nine genes up to 84 genes. So we would go over your family history, your personal history, see what you're comfortable with. It's going to be appropriate for your family but this gives an idea of exactly what you're going to be looking at in terms of making a decision on what you're comfortable with. Next. If you decide to do testing, the testing would be done that day, I would take one tube of blood. The results take about three weeks to come back. If I know that you need results to help with a decision on surgery or any type of treatment. And this is usually for breast cancer patients. The panel that you choose I can pull out the most prevalent breast cancer genes and I can get those results back in 10 days. The remainder of the testing whatever panel you chose that would go take another week or two weeks to come back, and I would call you with each of those results. So what kind of results can you get. You can be negative, you can be positive, or you can have a variant of uncertain significance. A negative result. Next slide. Negative result can be a true negative or a patient negative. Now a true negative means that you have a family member who got tested and they were told they were positive. I'm going to test you, if you are negative, then that means that any of the cancers that go with that gene, or anyone in the family who has a positive result. They are no longer a family history of that cancer for you, because I know what caused their cancers and you didn't inherit it. So now we're going to be screening you going forward, based on the population risk so you're back to doing your colonoscopy every five to 10 years or you're doing your mammogram every year. If you are negative with a patient negative, that means that there's no known family history of an actual mutation, but you may have a number of people with a particular cancer and you're coming to see is this hereditary. No, stay where you are. Thank you. If you are negative. It's going to rule out many genetic conditions, but I still have this family history that I have to be concerned about. There could be a genetic condition in the family. I don't know that unless those people get tested if they get tested and they're positive. I can rule them out and we no longer have to worry about them but in the meantime, we're then not going back to population risk. What we're now going to do is manage you based on your personal history. And now we have to continue looking at that family history to determine what types of screening you need to do. Okay, now the next one. All right, if you come back positive. It means that there's a change in the gene that's considered pathogenic. It's considered to be harmful. And there are going to be certain cancers that are going to need to be followed up on and screened for. It's also if you're come back positive, we're going to be looking at different family members that are related closely that you're going to need to offer. Let them know so that they can be tested so they can be offered the same protocols in terms of trying to prevent a cancer or treat a cancer they may already have. The recommendations we're going to use are going to be from nccn and they will determine what type of medical management is going to be offered to you. Family members at risk should consider testing both for themselves and also if they have children because of their positive, their children have a chance of actually inheriting those mutations. So the last one is a little bit more involved. It's called a variant of uncertain significance. So, DNA from person to person is not the same. We all have variations in how our story gets told how the job is done. But for the most part those variations are okay. And the lab is used to seeing them. However, every once in a while someone will get tested that they have a change in their DNA the lab hasn't seen. There's not enough information on it or there aren't enough people, or they have four or five people but their family histories are very different than yours. So the laboratory has to go back and they have to do more research. They can eventually come back with a reclassification of it being positive or negative, but just keep in mind that that process can be very lengthy I have people that are out several years and still haven't gotten a reclassification. The thing is, is that 90% of the time if you have a variant of uncertain significance, it is going to get reclassified as negative. The guidelines that we are using, they're going to state that you're going to base your screening and your surgical decisions on your family history and your personal history. You're not going to base it on that variant. Don't do something you can't take back, meaning don't do a surgery based on that particular finding because you may wind up with complications. In the end it's going to get reclassified as negative and you didn't need to go and do the extensive surgery or whatever you chose to do. So again, any changes in your personal history any new symptoms, or any family history that changes, get that looked into. One other thing, I also will send you a copy of your report, and the report is going to say that you have a variant in this particular gene. And it's going to go on to list the, the syndromes or the cancers that will go with that particular gene, if it is a mutation. Pay attention to those areas that they're listing if you're having any problems in those areas, get them checked out. I don't know that that gene isn't what's causing your problems. We don't normally test family members because we wouldn't know what to tell them, we wait until it's reclassified and then we will go ahead if it's positive, and we'll let you know what you need to do for your family members. All right, so we see patients in three different locations. I am at Riverview, Nicole Salvatore is at Ocean Medical Center in Jersey Shore, and Angela Fay is at Jersey Shore Medical Center. So our scheduling is done through central scheduling so you would call that number you would just let them know which campus is geographically best for you or if you're looking for the next available, but if you want a specific counselor. Well, for me you'd be able to do it with Riverview if you went to Jersey Shore, you may get Nicole or you may get Angela and unfortunately you aren't asked able to ask for the specific counselor they're going to give you whatever appointment is open. But if you do Ocean you're going to get just Nicole if you do Riverview you will get just me. Thank you so much and if you have any questions. I'd be happy to answer them. I'd like to put the, the other thing back up for the different phone numbers so that people are able to look and see, because I know that it's a lot of information to try and quickly get down. All right, if you have any questions, just let me know.