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Inherited Cancer Syndrome Clinic at UK HealthCare

Dr. Angela Shaw and Dr. John D'Orazio discuss the Inherited Cancer Syndrome Clinic at UK HealthCare.
Inherited Cancer Syndrome Clinic at UK HealthCare
Featured Speaker:
John D'Orazio, MD, PhD | Angela Shaw, MD, MS
John D'Orazio M.D., PhD is the Chief, Pediatric Hematology and Oncology at UK HealthCare. He is also Co-Leader, Genomic Instability, Epigenetics and Metabolism and is a Regina Drury/Children's Miracle Network Endowed Chair in Pediatric Research. 

Angela M. Shaw, MD, MS is a Pediatric Hematologist/Oncologist and an Assistant Professor of Pediatrics at UK HealthCare.

Introduction: Another informational resource from UK Healthcare. This is UK HealthCast be trained conversations with our physicians and other healthcare providers. Here's Melanie Cole.

Melanie Cole: Welcome to UK HealthCast with the University of Kentucky healthcare. I'm Melanie Cole and today we're talking about the Inherited Cancer Syndrome Clinic at UK HealthCare Kentucky Children's Hospital. Joining me in this panel is Dr. Angela Shaw. She's a Pediatric Hematologist Oncologist and an Assistant Professor of Pediatrics at UK Healthcare, and Dr. John D'Orazio, he's the Chief of Pediatric Hematology and Oncology at UK Healthcare. Doctors, thank you so much for being with us today. Dr. Shaw. I'd like to start with you tell the listeners what is inherited cancer syndrome and what types of cancers fit into this?

Dr. Shaw: So the pediatric Cancer Predisposition Clinic, it's a multidisciplinary clinic where the patients who are seen are children who have a strong family history of various types of cancer in their family and close relatives like parents, grandparents, aunts, uncles or siblings. There are multiple syndromes that can be associated with an increased risk of cancer in children and young adults. And the purpose of the clinic is to have these patients who potentially may have these syndromes or these genetic mutations to be evaluated by a multidisciplinary team.

Host: Dr. D'Orazio, or how do you recognize a family cancer syndrome?

Dr. D'Orazio: Guidelines exist now. For a long time, we've known that in certain families, cancers overexpressed right. The clues to whether a child might have one of these genetic syndromes that might predispose them to cancer is a family history of cancers at a young age, having different primary tumors of the same type over time in the same individual or throughout the family. Many cancers in the same individual. Like if you've been diagnosed once with something and then three years later after you've been treated for that to get something else and then something else after that, that's a strong clue. And then there are these known syndromes where you might have either some physical signs of them or you know, other suspicious things in the family history, but basically it's just too much cancer in the family. And we'd be happy to evaluate those patients and their families for that. One thing that I wanted to for sure mention was it's so important to do this because once you identify somebody that has one of these syndromes, we can actually intervene a lot of times to increase their quality of life and increase their life prognosis by catching cancers early and sometimes even doing things before they get cancers.

Host: Well, Dr. D'Orazio, I'd like to expand on that a little bit. If a child is likely to get cancer and you've determined this, that's pretty scary for a parent to hear. Tell us about the benefits and you mentioned early intervention and follow up, and watching this child. Tell us about those benefits. So the parents that hear this understand why it's so important.

Dr. D'Orazio: If you know that you have a lot of cancer in your family and you are wondering whether your children or your child is at risk getting an answer for sure one way or the other kind of puts that, you know issue at rest a little bit. If we do find something in the, in the genetics that is predisposing that child and possibly others in the family to cancer, then we can start personalized individualized surveillance mechanisms, right? So many different cancer syndromes are known now and there are guidelines on a national, international level that say, you know, at what ages is a child or a patient at risk of certain tumors. And really the key is to catch things early and sometimes to even do things to prevent cancers. And there was one big paper, back in 2016 looking at a syndrome called li fraumeni, which is one of the more common cancer inherited syndromes where you inherit one copy of something called P53 tumor suppressor. That is not working very well. And these patients are at a very increased lifetime risk of cancer. And so they had two groups, they split them up into groups. That one, they, they looked for cancers with things like whole body MRIs annually and things like that. And the other group had no surveillance and there was a 30% difference in the five-year overall separable because they could find a symptomatic tumors through that surveillance and do something about it before they became full blown, you know, cancers that spread all throughout the body.

Host: That's really amazing. So Dr. Shaw, you mentioned multidisciplinary care a little while ago. Tell us about the services that you provide at the Inherited Cancer Syndrome Clinic at UK Healthcare and how that management of patients with hereditary cancer syndromes require this multidisciplinary, interdisciplinary cooperation, between the respective specialties and human geneticists and all kinds of different providers?

Dr. Shaw: Yes. So as I said, the Pediatric Cancer Predisposition Clinic is a multidisciplinary clinic. When a family comes in, the first people they meet are the oncologist. It's usually me. I'm the primary physician who sees these patients in the clinic. And then we have the cancer geneticists from Markey Cancer center who come over in our clinic. So in the first day the family is assessed by myself and by the cancer geneticists. We gather all of the complex family history, talk in depth about what cancers have been in the family, how young the patients were, when they had cancer, any symptoms that the child had. The child gets a full exam and then we kind of take a step back and we discuss and we evaluate and decide which testing is specifically needed. And then we send any testing for cancer predisposition syndromes from the clinic that day. Usually they're either blood or saliva samples and then it takes several weeks for those samples to come back.

And then when we have the results, we contact the family and discuss with them. And since each predisposition syndrome is different, what we do for each patient is a little bit different and it's more tailored to what they need. There are some syndromes that predispose kids to have cancers in their digestive track, air in their colon and things like that. So if the patient has a family history that is suggestive of that, and then we've tested and they have a mutation and we involve pediatric gastroenterology, there are other ones that are predisposed to tumors of like the thyroid. So we involve the endocrinologist. It's really about kind of getting in with our clinic. And then from there we tailor and specialize which subspecialties need to see the patient so that we can get the best individual care for that particular child.

Dr. D'Orazio: And I would just add, you know, part of the multidisciplinary services that we provide include things like social work because this can be very stressful for families and counseling is very important. We also have genetics other than cancer genetics to act as a resource for us. We have child life, we have school intervention, we have a whole range of services that can help families get through these stressful diagnosis.

Host: Dr. D'Orazio, I'm so glad that you brought that up. What a great point. So finding this out and as we've heard about women who find out that they have the BRCA gene mutation, what about the psychosocial and emotional aspect of all of this? How does that work and how has the clinic, you mentioned social workers are able to help them, but what have you seen as far as families when they get this kind of information and how you can help them with it?

Dr. D'Orazio: I think most actually are relieved because they've had this on their mind. They have an answer, they we, we come up with a plan that makes sense. It's the same plan that you would get in Boston or LA or Texas because we follow the national guidelines for each individual syndrome. And it's true that, you know, part of this is the psychosocial component, which is big. We don't want to foster the sick child syndrome where we're a kid with this, you know, now known predisposition syndrome, you know, every lump and bump has worried about and stuff like that. But we want to be there for them so that they don't worry about that. So it's a delicate balance and that's why the people like the social workers who are awesome are so very important because it offers a sort of a nonmedical conversation to all of this. I don't know, Dr. Shaw, do you have anything else to add about that? I just think it's so very important.

Dr. Shaw: Absolutely. They are an invaluable part of our team. We go in and have the medical discussions, but they very much help families understand how that really translates to the real world and what that means for their and can they go to school and can they play with other children? So the child life team and the social work team are invaluable in helping us kind of translate what the medical means to real life every day.

Host: Dr. Shaw, is the survival rate higher if the parents and child know in advance that this type of cancer is likely to impact them. And while you're speaking about that, and due to the current pandemic, if parents want to come see you and they're fearful about going to the hospital, are you able to provide these services via telemedicine and Telecare?

Dr. Shaw: So each type of cancer is different and the treatment and survival rates are really different based on the type of cancer. However, as Dr. D'Orazio, you mentioned earlier, it's better if we catch it or find out about it earlier and it's an earlier stage and because that makes it much easier to treat usually. It has better survival rates and children at baseline genuinely do better than adults with cancer. And a lot of that has to do with our collaborative nature in pediatric oncology. You know, most of our patients, if they're eligible go on a clinical trial either for a new medication or a new way to give them medications. And we participate in several consortiums with other hospitals, including the Children's Oncology Group, which is the largest consortium in the world of hospitals that treat pediatric cancer. It's about 200 hospitals in the US Canada and even some in Europe. And so while it is kind of variable based on the disease, catching it early is very important. And we are working with Telecare now, you know, lean oncology, a lot of these kind of precautions that everybody's using now.

The, you know, the extra hand washing, the wearing the mask, the gloves, those are things that we kind of do in oncology at a daily basis because we already work with patients who are at increased risk for infection. So you know, the hospital is doing their own safety precautions. And on top of that we have additional precautions for coming into clinic and making sure that patients aren't exposed to anything that they don't need to be. But we are doing Telecare visits for families that are unable or just concerned about coming. We can get a lot of the important information via Telecare. But at some point we do have to do the testing, gathering the samples. So we kind of talk with their families once the Telecare visit is done, about how best to go about getting the rest of the information.

Host: Dr. D'Orazio, before we wrap up, is this covered by insurance when parents do Telecare visits and then maybe they have to do follow up visits? And tell us a little bit more about what those visits look like for parents so that they can understand and you know, you're doing these. So tell us a little bit more about them.

Dr. D'Orazio: We've never had trouble getting insurance covered for this kind of a thing because it's so very important to find out about this. You know, if I'm an insurance company, I'd actually want To know whether or not somebody has this so that appropriate surveillance can be instituted because it's easier to prevent bad cancers then deal with them after they develop, right. Both medically and financially. And so I don't think we've ever had problems with that, but if we did, that's also something that our social work team can for sure help with. Most of these referrals will come from the pediatrician or from actually the Markey Cancer Center. One of the reasons I should say why we can offer the services because of the strength of our NCI designated Markey Cancer Center. It's a very strong Cancer Center and it has a wonderful cancer genetics team. And sometimes when one person like who has developed a tumor, gets tested as an adult over at the Markey Cancer Center, you know, they'll, they'll want their family members tested and sometimes we get referrals that way. We're also beginning to have the ability to have patients just self-refer to our clinic if they are you know, interested in this consultative service. So you know, there's many ways that these patients can find us and come to us. And again, like Dr. Shaw mentioned, you know, during these pandemic times we will be happy to work with families to make this as comfortable for them in place in time so that they can receive the care that they need.

Host: And Dr. Shaw, please summarize it for us. Wrap it up. Tell us a little bit more about the program at UK Healthcare for Inherited Cancer Syndrome in the clinic. Tell parents what you'd like them to know.

Dr. Shaw: Our goal is to help families identify potential problems for their children in the future and to follow them throughout their childhood and young adulthood, to really make sure that we are giving them appropriate medical care and that they're followed. And to give them kind of peace of mind that they're not just always worrying that they know that there's something in the family, you know, but they're just not quite sure what it is. So our goal is really to take that, Oh, I think there's something in my family, but I'm not really sure and give them not only an answer, but a path forward.

Host: Thank you so much, doctors for joining us today. You can find out more about the program at's-hospital. That concludes another episode of UK Health Cast with the University of Kentucky Healthcare. Please remember to subscribe, rate, and review this podcast and all the other University of Kentucky Health. I'm Melanie Cole