Welcome, I'm Kathleen Haden. I'm a nurse practitioner at the University of Virginia in the Department of Surgery. And I'm so honored to be asked back again. It's been multiple years that I've been able to present for LessCancer.org on the importance of cancer prevention. And it's a real important part of my career, currently and always has been since 95 when we first started doing genetic testing. Looking at a potential relationship, do we inherit a gene from mom or dad that increased our risk of cancer? And dating back to 1995, we only had two genes, BRCA1 and BRCA2. I wanted to explore that the next step to the most important and vital person in figuring out, who needs genetic testing? And how we've evolved since 1995? When some of the first tests became commercially available. I run a cancer prevention clinic to look for pancreatic cancer. So it's a pancreatic cancer screening program at UVA the last decade. And our program continues to grow as we learn about more genes that have a link between pancreatic cancer within our blood work, in our DNA. And so today we're honored to have Martha Thomas, who's genetic counselor at UVA. And today we're going to just explore the different aspects of genetic testing. Specifically for pancreatic cancer, but also tie in the link related to other cancers as well. Martha welcome. >> Morning Kathleen. Thank you for having me. >> So tell us a little bit about where we are in germline variant testing for pancreatic cancer in general. >> So the easy answer to that, is that the National Comprehensive Cancer Network, or NCCN, recommends germline genetic testing for any person diagnosed with pancreatic cancer. So it's really not confusing. Or if you have a diagnosis of pancreatic cancer, you qualify for germline genetic testing. Also if you have a first degree relative, that has pancreatic cancer, whether they're living or deceased, you also qualify for genetic testing. So that's a parent, a sibling, or a child that's been diagnosed with pancreatic cancer. So there's not a lot of loopholes, or if then, then that's, that you need to remember. It's actually a very straight forward guideline. >> Yeah, and it's so important that this information gets out there just for family physicians, internal medicine doctors to really take a really detailed family history upon those visits. And it's interesting how even though we know, how many genes are there now linked to pancreatic cancer? >> There's about 13, that have a very strong well understood link. >> Right, and I guess the other important thing is, there may be a pancreatic cancer, but potentially another cancer linked to it. And that's when they have to kind of put the puzzle together, to look at, there's a breast cancer here, or there's a colon cancer. So describe those links. >> Yeah, you're exactly right. The genes that are associated with an increased risk of pancreatic cancer, every single one of them carries an increased risk for another type of cancer. So things like breast, ovarian, uterine, colon, melanoma, genital urinary. These are all cancers that can be present, either in an individual or a family history that has a genetic predisposition to developing pancreatic cancer. So, I think sometimes there is a tendency to put on blinders. And say, all right, I'm only concerned about other pancreatic cancers in the family. When actually one person with pancreatic cancer, and one or two people with breast cancer, that could actually be the indication that there could be some genetic component running through that family. >> Right, and describe your role, if a patient wants to come to you, because they realized they may be at risk, or someone refers typically to you about the process. And then maybe talk about your meeting with them. And also the difference between hereditary, familial, and sporadic pancreatic cancers. >> Sure, so genetic counselors, we all have graduate degrees specifically in genetic counseling. So we are trained, we are board certified in most states. We have licenses to practice independently. To both explain the genetic component and do that kind of risk assessment, but then also to address the counseling needs. Unlike other areas of medicine, we can't fix genetics, you can't cure your DNA. And so learning about a genetic predisposition to developing a cancer, can be a very emotional thing for a person or a family to go through. And so we can really help navigate. Again, not only the medical and the biological components of, what does hereditary cancer mean? What can this genetic testing tell us? But also the psychosocial of, how do you talk to your brother, or sister, or your cousins, or your children about these results? So, most of the time it's a pretty lengthy appointment. It can be up to an hour, even longer than that. And we really go through collecting comprehensive family histories regarding cancer. Sometimes other features as well, as some of these genes can present. With things like colon polyps, or thyroid nodules, or something along those lines. And then walking people through sort of our risk assessment, what options are available to them. And then how would we interpret the results? And genetic counselors are then the ones that call out the results to patients. And depending on how the results come back. Again incorporate that family and medical history, and create a comprehensive care plan for that patient. And for their family members as well. >> Yeah, and that's so interval apart. Martha a lot of times we refer to my clinic, because you'll find someone that has one of these genes, to talk about pancreatic cancer screening. That's so key. And it's a simple blood test, or a saliva test. And the other thing is- >> I was going to say that's correct. I always say- >> Yeah- >> It's a simple test that can give you a lot of powerful information. >> Yeah, yeah, and it's become very cost. It's not as costly as it used to be as well. >> Yeah, that's also correct. I think a lot of people have this idea, that genetic testing is thousands, and thousands of dollars, and it's really not. With the NCCN having such straightforward guidelines, most private insurers follow those guidelines. And so most people have genetic testing covered, at, or very close to 100%. The out of pocket cost is now only a couple $100. So, while it's not no money, it's a little easier to wrap your head around in some $5,000. Which is nowhere near what genetic testing costs now. Again, truly it's only a couple of $100. And one of the benefits of working with the genetic counselor is, there's also a decent amount of sponsored testing that's going on. So, for patients with pancreatic cancer, there are actually options that it is completely free. That we do not need to go through insurance at all. So, I always emphasize that finances should never be a reason to not go forward with genetic counseling or testing. Because there are so many ways that we can figure these things out. And make it a very financially comfortable situation. >> I know, that's so exciting. I remember back in the days, when it was so very expensive. And it's just interesting from a psychological standpoint, how if someone does test positive. Talk about the aspect, how, it's interesting how some people don't want to test. They don't want to know. Absolutely, that's one of the first things I say about genetic counseling, is genetic counseling does not equal genetic testing. My job is truly to make sure that people have all of the information that they need, to make the right decision for themselves. And if the right decision for themselves is to not go forward with genetic testing, that's actually a fine decision. As I said earlier, this can be a very heavy test for people to take. Especially if they've watched family members pass away from this. Cancer as we know, pancreatic cancer can be a very devastating disease. And, that can be emotional, to find out that you are at increased risk of developing the exact same thing you watched a parent, or a sibling, or an aunt, or uncle, or grandparent die from. And so again, allowing people to sort of walk through those emotions and not simply do just a blood draw. And make sure that they understand and are prepared, is a really important part of my appointment. And something that I really focus on, because you can't unlearn information once we have it. >> And tell me, based on the literature to date, if it's important for people to realize if there is a family member, it's rare that there is a germline variant, correct. >> Exactly, we think that about 5 to 8% of all pancreatic cancers, are due to that identifiable, that we are able to find that pathogenic variant in a gene that's running through the family. So it is uncommon. If there's 100 people with pancreatic cancer, only 5 to 8 of them, will actually have that true hereditary component. But that's where, you and I working together is such a great team. Because then we do have, as you had mentioned before, these familial pancreatic cancer families, or familial cancer families in general. Where there is a lot of cancer. There are two or three family members that have had, say pancreatic cancer, and we've tested everybody and we can't find anything. Then they fall into that familial group. Meaning that, yeah, we can't pinpoint something. But gosh, this seems a little bit more than just coincidence. And, the truth of it is, is that we are discovering new genes all the time. So there could be a gene we haven't discovered yet. There might be some common environmental factor, that all of these individuals were exposed to. It could be that there's 100 tiny little genetic factors, that individually mean nothing. But in that family, come together, to create that increased risk. And so, sometimes I can feel like a Debbie Downer, when I call out these negative results. And people say, you all right, I'm not at increased risk of cancer, [CROSSTALK], well not necessarily. I still think that you could benefit by going to a high risk clinic, and sort of learning more about the options for cancer screening in a familial setting. >> Right, and I think it's important in our screening programs now across many comprehensive cancer programs. We have high risk pancreatic screening programs. We have high risk breast ovarian cancer clinics. For every genetic mutation, lynch syndrome clinics, lyphominic clinics. Which is so exciting and such a key element for prevention. Because if we find these genes, we are going to be able to screen these individuals better, and potentially save lives by prevention, which is so key. And it's just still educating lay people, healthcare professionals as to the importance of screening. And doing a good family history. Tell me, yeah, tell me where in terms of genetic counseling, it's sometimes you are key, in play such a key role in this. And how one, the demand of your role, the limited role of we need more genetic counselors, right? And how, if people see you your, I know in our clinic there's issues with insurance reimbursement >> Yeah. >> For people to see you. And what can we do to advocate, to get more of you out there and practice. >> Yeah I mean that's I think, if anything the pandemic has sort of exacerbated, how much we just need medical professionals in general. And genetic counselors really fall into that role. As genetics is becoming a more and more a part of really lots of areas of medicine. Neurology, cardiac, pulmonary, ophthalmology, I mean, you name it, there's a genetic counselor that is working in some area of medicine. And that's because we really are entering that era where we are trying to figure out why things happen. And again, it's that prevention aspect. Not only offering an explanation to patients and to families, but then taking it a step further and trying to prevent some of these issues that are popping up in their family members. And right now genetic counseling schools, the amount of genetic counseling schools since I graduated, has literally doubled. Which is fantastic. And I think for academic institutions to continue to support these schools to grow, is really important. Most private insurers do cover the cost of genetic counseling. Sometimes there is a copay, just as you would go to your normal provider and pay. One of our biggest rate limiting factors is CMS right now, and Medicare and Tricare reimbursement. Genetic counselors even though, similarly to NPS and PAS, we have graduate degrees, and our own licenses, were not recognized providers through CMS. Which means that there is an out of pocket cost for these patients to see a genetic counselor. And that's something that we're really hoping to fix and address. And we do have some bills going through Congress right now. We have HR2144 and Senate bill 1450 going through Congress as we speak. And we've really worked, I personally have spoken to my senators and my representatives, to try to encourage support for this bill. Because as we know so many people with cancer have Medicare. And it's a gap in our ability to provide really comprehensive effective care. >> Yeah, yeah and it's such a key part in prevention. So if I was watching this and I notice I have my family history that's concerning, how would I go about finding a genetic counselor? >> The easiest way to do that is to go to NSGC, TheNationalSocietyofGeneticCounselors.org, o-r-g. And there's a big button, right there on the right hand side, that says find a genetic counselor. You can search by your city, your state, specialty, and everybody will pop up. And it has our email addresses, our phone numbers. We try to make ourselves pretty easy to get in touch with. And myself, for example, I accept self referrals. So, if you were to find me online and call that number listed, and just say, hey, I have a family history of cancer. I'd like to meet with Martha. They'll get you on my schedule. And so, that's a very easy way if you are not plugged into sort of a medical home. The other thing is, to ask your provider, your physician, your nurse practitioner, your PA, your nurse midwife, whomever you work with. Because chances are they probably know somebody in the area, and we'll be able to plug you in very, very quickly. >> That's great. And, yeah, so important. And obviously we have things that are at UVA website, that may be helpful. Any other last tidbits or advice in terms of, I mean, I think, what I think about cancer prevention, it's a mix of multiple things. It is the way we eat. It's the way we take care of our body by movement. It's important just sleeping, right? It's important of our social and emotional well being. And obviously removing environmental factors that potentially can cause cancer. But genetics is one of those key proponents for that. So, it's so great that we've come so far, in cancer care, since I've been doing in 1985. And we continue to grow and discover. It's kind of daunting, but also exciting. And, yeah, so thank you for your work. And any other last tidbits before we sign off? >> No, I think there's no such thing as a bad referral, or a bad question. So, if people are concerned or have questions or providers, you're just looking at a history and I don't know what to do with it or whether to make, heads or tails of it, just refer. I'm more than happy to spend the time sort of walking through and then getting any recommendations back to that provider or the patient. >> And one last thing, I assume you do telehealth visits. >> We do do telehealth visit. And that's been a very lovely silver lining of the pandemic. That we're really trying to grow that before the pandemic. And man did, did March of 2020 just sort of push that into the fourth. >> I know, it's the best thing. I mean, even from a pancreatic cancer screening aspect, I can reach further out. And it's been such a amazing thing. >> Absolutely. >> Well thank you so much for your time. >> For having me, Kathleen
