 Hi, everybody. My name is Jane Murphy. I'm a genetic counselor at Riverview Medical Center. I graduated from Sarah Lawrence Human Genetics Program. I've been doing genetic counseling for 28 years. I am board certified, and many of the states, all but 13 states require licensing so I have licensing with the New Jersey Board of Medical Examiners. Today I wanted to go over a couple of things, go over the different misconceptions about doing genetic counseling and genetic testing. I also wanted to go on what's involved in a genetic counseling session and a little bit of the genetics behind it, but also the results, what kind of results you can get and what you can do with those results. So this is the one I wanted to do first. This side is telling me to let you know that your medical information, your medical genetic testing is not going to be used for any cloning purposes. The equipment and the type of techniques that are used for that DNA are very specialized, very expensive, and most labs do not have that equipment, plus it is illegal to clone anything, especially humans in the United States. So please rest assured that your information for medical genetic testing goes no further than testing you and then it gets discarded after a certain period of time. All right, so the other misconceptions that I want to try to address today are what do I why do I need to do this, why would I want to know about something I can't do anything about. I've already got cancer so I know it's hereditary which I'm going to show you slides that show there is a difference between being genetic and being inherited. And what's the point of doing in the testing now I've already got the cancer. I'm already doing my screening. So you may already be doing your mammogram or your colonoscopy we're going to go over other things that may need to be addressed that go beyond that insurance won't pay for it or my insurance will get canceled if I'm positive. All right, so let's start off with all cancer is genetic, but not all cancer is hereditary. What do I mean by that. So let's start with the top part of the slide is showing a sporadic cancer how that occurs the bottom is going to have to do with hereditary cancer. So, in terms of your genetic makeup you have two copies of every piece of information because you got one from your mom one from your dad. So on the top slide you see four different sets of cells the first one shows that you're going to start off where you have all good cells all the copies are doing what they're supposed to be doing. But then you're going to have exposures throughout your life that are going to be damaging DNA. Most of that damage is going to get fixed, but we all accumulate mutations as we get older and those mutations don't normally get fixed. If you have two copies if one of them is working, then you're okay so the second group of cells you can see you've got mostly normal cells you've got a good copy and a bad that section is good. But if you have another exposure and that exposure can take anywhere from 15 to 30 years to find that same cell, same pair of genes and knock out the second copy. Well now you're looking at a cell that's not working so good because that pair of genes isn't doing its job. If one of those pair, if one of the copies doesn't get fixed that cell has the potential to start doing what it wants and it's going to want to grow out of control and that's where the tumor can develop 90% of the time. This is how cancer happens it is not inherited, but it is still genetic because the DNA in the cell has been damaged. Now let's move on to if you have an inherited mutation. That means the original cell that was used to make you has a mistake. I need that cell to keep building you have to keep copying it. As I do though I'm also copying the mistake. So down in the bottom section the first group of cells you can see each cell has one copy of the gene that doesn't work. It's a target than the uppers the upper set of cells that I showed you. So, more likely that that second copy is going to get damaged and sooner. So to get to the same endpoint, you're likely going to see that happen, probably before the age of 50. Right so if you see a number of people in a family that have cancer that is under that age. That's something that definitely needs to be looked at. However, I have young people that get cancer at the top reason it's sporadic, but I have older people that can have hereditary. So the 50 is more of an arbitrary kind of a kind of a number that was picked. So let's get into some of the, the misconceptions are the things that people think are going to happen and maybe won't. Why do I need to do this. Well, actually you don't. Nobody's going to require you to do testing. Nobody's going to tell you that you need to do it. Genetic testing is very very personal. It is not just a blood test. If I test you and you come back positive you are looking at a lifestyle change you're looking at your whole life being changed because of that positive result. If you can identify a genetic mutation, it can lead to very specialized interventions that are specific to you and to your family. So more surveillance, certain types of surgery, even medications that can be given to you can be more effective if we know that you're positive or negative, and you can also help to prevent a cancer or detect it when it is still in the early stages are still in the curable or treatable stage. Testing can also provide information for your family. If you're positive your family members that are at risk may want to be tested and then they would be able to be given the same protocol to try and prevent future cancers or to help with the cancer that may already be there. Results can also alleviate some of the uncertainty or anxiety of the possible origin of a significant family history. So I have many people who I have all the women in my family have cancer. I know I'm going to get it. It's inherited. It's genetic, whatever. If you get tested and you find out that you are negative, we still have this family history, but then if I test other family members, they come back positive and you're negative that eliminates them as that family history for you. So you're gradually going back to population risk. On the other side of the coin is you find out that it's positive for a mutation. And you have this strong family history but now that we know that you're positive we have different things, different services in place that can lessen those risks so you may not wind up in the same position that your family member did who didn't know that there were things available for them. We also find that patients are more likely to adhere to the screening recommendations. So how many people have come up upon oh I've got to do my colonoscopy I have to do my mammogram well everything's been going good I'll wait a little while. If you know you have a mutation, most likely you're not going to do that because that little while turns into a year or two years or three years. Right so people know that their genetic status is, you got to do this screening and we're doing it because we're going to try and prevent something. They're more likely to adhere to it. Why would I want to know about something that I can't do anything about. So for genetic testing the rule of thumb is genes are not put on a test unless we have something in place to follow you up we don't have a game we have a game plan to try and help you determine what we're going to do to try and prevent some of the cancers that might happen or try to help with something you already have. We don't just go oh we want to do this one doctor gets to do this one doctor gets to do that we have national guidelines that are in place. They're called for genetic for genetics. I'm sorry for oncology specifically, they have a national comprehensive cancer network or the ncc and network. Those guidelines are updated usually every six months or so specifically for various cancers. We also go by position statements from different societies oncologist breast surgeons general surgeons. The ncc and guidelines are what we use most of the time though you'll have these other ancillary things that we will use as backup, but the ncc and guidelines, they're very specific and they will talk about what needs to be done. If you have cancer, or if you're positive for something you don't have a cancer. So the guidelines are very detailed. So this is specific for someone who has a block of one or a block of two mutations so this one is like two pages long. All right, but this is very specific on what you're going to do for somebody if they have a block of mutation, the surveillance surgeries that could be offered to them. If somebody already has a cancer, then it goes about what we would do to offer them more than what they would have been offered if they were negative for this. Now these guidelines are not just for genetics. The guidelines go over many, many different types of cancers, and it goes over many cancers that you may be negative for but it's a protocol that's in place very detailed protocol for what surgery are we going to do if you have this kind of cancer in this particular area and if you're not positive for somebody, then it goes over many different types of cancer. And vice versa, what are we going to offer people if you're positive and you have this specific cancer? So these are very detailed and they, as I said, they do deal with management, whether you have a mutation, a genetic mutation or not. So in this area of genetics, I like the visual on this because it's large and it gives you very specific information. But I want to use this segue into the next kind of misconception of why would I want to do screening. I already know I've got this. So if you look down the side, those are the different genes that would be tested for with this. This is a 25 gene panel. It's horizontally it shows that what gene is associated with what cancer. So now if you can look at this you can see that multiple genes can be responsible for the same cancer. But one cancer can have multiple genes that can be affecting them. So that's why now the technology has gotten that we can look at a bunch of genes at one time. So when we go in, we offer panels to patients. Those panels are anywhere from nine genes to 84 for the lab we use. There are other labs that will do in the 90s, some are even in the hundreds. When you start getting into the larger panels or you're getting into information that's there, but we have vague recommendations on what to do for it. So the lab that we use is 84 genes. Alright, so looking at this you can see we have many different genes that we would be looking at for the types of cancer. So you've already got cancer. And I do my screening. So I'm going to combine these two. So we all know that you do your colonoscopy at 45 your mammogram at 40, but many people don't know is that because one gene can be responsible for many different organs. So it's very diligent about doing your mammography because you have a strong family history of breast cancer or your colonoscopy because of colon cancer. What you don't know though is that if you're positive, you have a risk of colon cancer, but also stomach cancer, kidney cancer. Nobody's looking at that. Nobody knows that they need to. So if you get testing because of a family history, it can give you a better idea of while I'm doing this screening but is that all that I need to do. If you're diagnosed with a cancer and you come in and you do genetic testing. As I had mentioned before, we find out that the treatments are improved the outcomes of the treatments are improved because we have something we can specifically look for. If you have a genetic mutation, some medications may work better for you if you're doing chemotherapy than if you're positive if you're negative. Other medications will work better if you're negative. So that helps a little bit with that. It also helps with should someone be offered prophylactic surgery for various things. That surgery may help to prevent a cancer. Another cancer from happening that you didn't know that you were at risk for. All right, the one that everybody is so concerned about is more about your insurance. My insurance won't pay or it's going to get canceled. So most insurances are going to pay for you to do genetic testing. But as we talked about before, 90% of cancers are not going to be inherited. Insurances don't want to pay for 100 people to get tested if only 10 of them are going to be positive. So there's certain criteria that is put in place. Following the NC same guidelines, those were guidelines insurances have taken them and made them more into a criteria. They want to see a certain pattern in a family they want to see a certain number of people with cancers of various types. They want to see them at certain ages. Again, the arbitrary age of 50 they want some of those people to be under 50. And they want to be related to you in a certain way. So there is a criteria before the insurance company will pay for it. But here's the thing the further away from that criteria your family history gets the less likely you are to be positive. So it won't be as big a deal to not get tested if you really don't meet any criteria. The other side to is that anybody can be tested. You don't need a family history you don't need to meet a criteria if you wanted to pay out of pocket. So what we use and this is specific to the lab we use others do have programs in place that they will charge less money but the lab we use if you choose not to use your insurance or your insurance won't cover it. It would be $250, regardless of what you're doing. If you do one gene or you do 84 you get the same, the same panels for the, for the price of the 250. You cannot go towards your deductible if that's one of the reasons that the insurance is not paying for it, mainly because you're not using your insurance. The lab we use also if your insurance will pay for it but they're not going to pay a lot for it. The lab will then, once you get the bill, they will allow us to negotiate that bill down and I can usually get it down to $250. So, again, unfortunately it's on the back end so you're not getting the information ahead of time to make a decision. We always say to people if I go to the store and buy a pair of pants I know how much it costs before I leave. That's not really the way it's going to work with this they're going to try to pay for get it through your insurance and then we work from the back end. Most of the labs, including the one we use has a patient assistance program that can help to bring the cost down as well, especially if you're in certain income groups. Any insurance that the lab we use is considered out of network for our lab. Then our lab which is in vitae is the lab that we use they will bill the patient $100 your explanation of benefits will say you owe $6400. But that's telling you how your insurance works that's the way things would work if this lab wasn't putting the deal in place, but they will adjust the bill at the end, and it will cost you $100. Now as far as the counseling bill so you get two bills one from the hospital and one from the laboratory lab works the way we just discussed for the hospital. This is very specific to hack and sack meridian and in fact very specific to the three hospitals that we go to which is Riverview Jersey Shore and Ocean. If we are in network, then your insurance works according to how anything else would work coming to hack and sack meridian. You don't have to meet a deductible you have an out of pocket that has to be met. I can't do anything about the leftover bill with that whatever it is it is so it's best if you contact your insurance company ahead of time to find out if it's going to be covered. If you do though give them the name of the hospital that you're going to be going to not the name of the counselor, we're not registered with them the bill is done through the hospital so if you give them our name. We know we're not network and that's going to be incorrect information for you. If HMH is out of network then the cost of the genetic counseling session would be the patient's responsibility. And at the moment that cost is a little over $1100 which is a lot of money to be stuck with if you're not sure if it's going to get covered. So patients that have Medicare ball that I talked about before off the board. And again, very specific to our hospitals and very very specific to the the lab in vitae. If you have Medicare of any kind, managed care or straight traditional Medicare, you will not get a bill for the genetic counseling and the lab that we're using is presently not charging patients for the testing if they have Medicare. So basically your bill would be zero. You don't really have to meet any criteria because we're not using the insurance but I do like. I do like to see that there is something going on because I don't want to abuse the, the resource that they've given us so what we're really glad about is that with Medicare. If you're following their criteria, the person being tested has to have cancer. It has to be relevant to what we're doing. I'd like to see some some of that being met but the best part about it is we can now test patients who have a terrible family history, but they don't have cancer and they're trying to prevent it. So this particular lab is giving us the opportunity to do that. For discrimination or cancellation of your insurance there are a couple of federal laws that are in place that help to protect your medical insurance and your premiums. Gena, which is genetic information non discrimination act, HIPAA and the American Disabilities Act. These laws prevent medical insurance companies from obtaining your genetic information without your permission or from using that information to set your premium costs. So one of the things to be very careful about is that during the pandemic, a couple of the insurance companies tried to get something passed with other bills that were going across the floor concerning COVID they put these riders onto it. What they were trying to do is, if you have a family plan. You have to be careful about what your family is saying. They can ask you if you've done testing, but they were trying to make it that I can talk to your husband or your kids and say so what's going on in your family, do you have genetics is anybody tested. And that's something that they can use because that was given voluntarily. All right, so just tell your family that if you have a family plan. You don't answer those kinds of questions because you're not required to provide life insurance or for disability long term disability insurance. That's a little different. Each state has different things in place that are supposed to protect people against being discriminated or having premiums be set based on your information from your family. However, the application you get can say, is there a genetic condition in the family and have you been tested. Now if you have four people with breast cancer in the family. It's not saying you have a genetic condition. What that's saying is you have four people with breast cancer. What they mean is, have you been clinically diagnosed in the family with a genetic condition or has somebody been tested that says you have had this. And did you get tested for it. So you need to answer that question truthfully because the fact of the matter is, it would be fraud, and they can get you on that. The thing is, is that if you have a strong family history of cancer, or you have a diagnosis of cancer yourself. That's really what's going to be driving the bus for your premium costs. It's not going to be whether or not you had genetic testing so please don't be afraid to get tested, because of the fact that you are worried about that particular insurance. So, as I was saying that if they may not use the information to discriminate against the cost that they can outright say that we're not going to cover you because of your family history or because you've got a preexisting condition. All right, if you already have a life insurance policy or a long term disability policy, and you're not required to renew it every year or you're not retired required to report that to them for any reason, then I would go by the don't ask don't tell. If you're tested, you don't need to tell anybody if you've been tested positive because it's not something that legally they're requiring you to do. Right, so you do have some protection in here but we normally tell people if you were thinking about getting life insurance, you might want to do it before you come if you're that concerned that the state that you're in, or the state that your insurance company is coming from may not have those particular protections in place. Let's go over what am I going to do when you come for this session. Right, so when you come for genetic counseling session, we do an intake, we start off with asking you about colonoscopies you've had family history. I'm sorry colonoscopies if you have mammograms children, when was your last period just different things that you normally get asked at any physicians appointment that you would go to. We then would do a three generation family history. I'm going to talk about your grandparents your aunts, uncles, cousins. I'm interested in anybody who has cancer what kind how old they were. We normally send out paperwork but we're finding that that's not getting out in time for the session it's like a worksheet to help you. We used to have our stuff on the website it got taken down and I haven't been able to figure out how to get it back up there yet. So if you don't get the paperwork, please don't panic just put together a family history that has to do with the different generations. Most people cannot just come in and start talking about their family cold they need to talk to people. And this way it saves some time so we're not texting people and calling them and they're not answering you, trying to get some information about your family. So after the family history is done, then we would do like a little mini one on one class for genetics, it's very similar to a lot of the stuff that I had in the beginning, especially that photograph of the hereditary versus sporadic. That's all part of the session that I would be going over with you. We also go over the testing what we're going to do and what kind of results you can get. So for this. Well, this is what we use to kind of help people determine like what do you want to do on this testing, as I said before we have up to 84 genes that we can test you for. It's going to be based on your comfort on what you need for any treatment purposes and on your family history so we work together to determine what's the best size panel to offer you. So if you choose to do testing. The results normally take about three weeks to come back, I would call you with those results. And then, once I speak with you a copy is sent out to you a copy is put up on the system for any of your doctors who are taking care of you to see. We also send a copy to physicians that are not part of our, our electronic system so that they can see what your results are, especially if they're the referring physician. The thing is to if you are coming to me because you need results for a surgical reason and this is most likely if not all the time going to be related to breast cancer diagnosis. Certain genes that we would be looking at if they were positive make change the decision that you've made for the type of surgery you want to do. So that situation, regardless of what size panel you pick. If you need certain information back for surgery, I can pull out about nine genes that have to do a breast cancer can get them back for you in about 10 days. That way if you have any decisions that you need to make you have the major genes that would change your decision. The remaining portion of the panel say you picked an 84 gene panel I get those 10 gene those nine genes back. The rest of the results will take about a week we can have to get back. And then I would so you get two phone calls one with the, the nine gene stat panel and then one with the remaining genes, your doctor would also get a copy each time. But I usually wait to send everything out to the patient until I have everything back so you would get your results completed unless you requested otherwise you get them back in about three weeks total, an actual hard copy. Alright, so let's go over the results you can get, you can get negative positive and you can get what's called a variant of uncertain significance. So for the negative, you have what's called a true negative and a patient negative true negative. You come to me and you have a mutation in your family. I test you for that mutation. You don't have it. That is a true negative. I know for the cancers that have to do with that gene, anybody who carries it, those cancers, you're not at risk for anymore. You have the same risk as the population. Right, so you would be doing your screening based on population, not on your family history. If you have a patient negative, that means that you came because your family history has a lot of cancer in it and you're worried. I test you and you come back negative. Well, that's going to rule out a lot of cancers in general, but you're now not back to population risk because you still have that family history. Right, but now that we know that your risk is not due to a genetic mutation, then I can say well we're going to base your screening on your family history and your personal history. So your risk may still be a little bit higher, but it won't be as high as if you were positive for a known mutation in the family. The other thing that's very helpful if someone gets tested and they do not have a diagnosis of cancer is that if other family members who do have a diagnosis of cancer if they get tested, it helps to determine the significance of your negative result. I would say someone with breast cancer tests and they're, you test and you're negative, and I test someone, everyone in the family with breast cancer and they come back positive for this mutation. All right, well now they're no longer a family history of that particular cancer, because I know what caused it, and you didn't inherit it. All right, so that's why it also becomes important for other family members to be tested, even if the person who comes to me is negative. And positive means that there's a pathogenic or harmful change in your DNA, and this can be familial, which means there's a previously noted mutation in the family, or you could be the first one who comes back with this whether or not you have a diagnosis of cancer. The recommendations we would use then are no longer based on your family history now we're going to go by the recommendations of the guidelines that we have for medical management so you may be doing a lot more surveillance you may be offered different medications or surgeries. There are members that are at risk. First degree second degree relatives and uncles siblings children, we would want them to consider testing. Most of the testing is not done until they're 18 so if you have children that are under 18. The majority of the genes would not be we wouldn't do that testing on them. And since most of the screening doesn't start till 25 if you have a mutation, we wouldn't be telling you to run right out on your 18th birthday. It's a handful of genes that we do test children for because we do see symptoms and children that can be as young as toddlers. Some of them eight nine 10 years old so we do test for those but for the majority, you're looking at 18 or older. The variant of uncertain significance that can cause some despair for some people because it's something that we really don't know what it means at the moment. It's a change in your DNA, but either the lab has not seen it before, or they've seen it but only in two or three people, and that those people that they have seen it in their family histories are different than yours might be. So they don't have enough information where they can say right up front this positive or negative. They will go back and do more research into this they've got algorithms they've got testing that they they do other family histories, wait for people to come in for the same result. And then they will reclassify it. The thing is is that 90% of the time, a variant of uncertain significance is going to get reclassified as a negative. So because of that if someone has a variant and you can get more than one. You're going to be told we're not changing your medical management based on that. So you're going to continue to look for any new new symptoms that you may have. We want you to be careful about any changes in your family history, follow up on them until the variant is reclassified. The reclassification can also take anywhere from a few weeks to a couple of years. So in the meantime, really all you have is just being vigilant about your health. And also do not test family members for a variant because we wouldn't know what to tell them we don't know what they should do for medical management because we don't know if it's going to be positive or not. Once it gets reclassified if it is positive, then we would be looking at discussing who needs to get tested based on that positive result. So would you decide that after listening to this that you've got a family history or personal history that's concerning and you want to get genetic testing. We do our scheduling through central scheduling. So this number here is the one that you would call. There are three different campuses that we do testing at. I am at Riverview, Nicole Salvatore is at Ocean Medical and she has two days at Jersey Shore and then Angela Fay is at Jersey Shore Monday through Friday. So if you want to know where you want to go you just let them know when you call, which is closer to you or which is your doctor prefers you to go to but you need to just tell them which one. Also be careful if you ask them for the next available appointment and you don't tell them where, but you're thinking you're coming to Riverview. You may wind up with an appointment at Ocean. So, just make sure when you make the appointment that you're, you let them know where you want to go and that they actually make the appointment there because if there's not an appointment say at Riverview and you say well do you have any other appointments, they may go to Ocean or Jersey Shore, but you may not be told that. So just be sure that you confirm like where your appointment is going to be. You may need a prescription. You can get that from pretty much any doctor that you go to gynecologist GI doctor primary care. We just want it to be from someone who's going to be kind of part of your care so like not your podiatrist or your orthopedic surgeon. You don't have to get the script and if the doctor is part of a hack and sack meridian. We have an electronic system they can just put that in you don't have to stop off to get the appointment, get the script from them.