I am Anoop Patel. I am a child neurologist at Ohio State University and Nationwide Children's in Columbus, Ohio. But for here and what we're doing today, I am very honored and blessed to be the Board of Director President for the Child Neurology Foundation. So before I get going, I want to make sure that I remind everyone that this educational activity is supported in part by an education grant from UCB. So today we're going to talk about genetic testing in epilepsy and improving outcomes and informing gaps in research. These are my disclosures, none that are relevant to what I will be covering today. As you can see on this slide, we have a really robust agenda. But more importantly, there are going to be times and opportunities for us to interact with one another and learn from one another. And I think that's an important aspect of what we'd like to accomplish today. One thing we'd like to point out is that you can scan the QR code that's on a piece of paper at your table. And that allows you to submit questions, comments. You can read agenda items or speaker bios and find some additional resources. There are also tablets circulating, I think, some places that you could be useful as well at the end. Before we get into the content and meat of what we're going to talk about, I want you guys to take a few moments with the people at your table and talk about maybe one or two key issues that you're hoping to get from our session and symposium today. And then we'll regroup in about three or four minutes. So if you could, go ahead, introduce yourself, obviously, if you're sitting with people you do not know. And then let's talk about one or two things you want to take away from today. All right. Let's go ahead and wrap up your discussions and we'll bring everyone back together. So as it relates to what we wanted you to get out of our session, amongst other things that you're obviously going to contribute, are some of these objectives that you see in front of us. You know, determining when a genetic test is appropriate for a patient with epilepsy, order or refer patients to genetic testing options more often, and then going beyond the seizure management to diagnose and to treat people with epilepsy. Before we get to the specifics, I would like to say a few words about the Child Neurology Foundation and the mission, and partly why I'm so passionate to be a part of this great organization. As you can see here, our mission is to serve as a collaborative center for education resources and support for children and their families living with neurologic conditions and facilitate connections with medical professionals who care for them. That's a big charge of what we do. One of the biggest, I think, misnomers about our foundation is we're not just a fundraising organization that is to help in different aspects of it. We do much more in the sense of these resources, educational, the connections that are so important to our families, to our patients, to the people living with epilepsy and other child neurological disorders. So we also want to say thank you to the American Epilepsy Society for being a willing and gracious partner as it relates to our mission to provide those educations and foster those connections to all of you. I'd like to show you a quick video that represents who we are. There's this way, or that way, divided or united, isolated, orchestrated, single file, family style, untethered, all together, out in the cold or warm inside, stranded on the shore, or rising with the tide. One in five children live with a neurologic condition. Together, we can help each and every one. Be part of the rising tide. Every time I see that video, I sometimes get choked up because I think it says a lot of what we're here and what we need to do and that we have a lot more work that we want to do. So let's kick in in what we learned or what got us set up for our discussion and symposium today. So we at Child Neurology Foundation do assessments to our stakeholders, the patients and families with neurological diseases. And we collected data around two surveys, and I'll get to more of the specifics on why we focused on certain aspects that we did. But we really wanted to get an understanding of what opportunities from an education programming was needed and what direction that we had to take. So we focused on these surveys around the topic of genetic testing in patients with epilepsy. And our responses were pretty robust. We had over 1,500 responses from 48 states in the United States. Unfortunately, our data was a little homogenous, that 90% were identified as Caucasian, and their household income was higher than $100,000 per year. The survey was also supported by our advocacy organizational partners. The Child Neurology Foundation partners with many of the advocacy groups you're familiar with and many that you may not be familiar with. The second survey focused on our providers. And what we found was that we got 152 responses from neurologists treating children in around 30 states. 80% also identified here as being Caucasian or white, with 14 being Asian or Asian-American. And this survey was supported by both CNS, the Child Neurology Society, and the American Epilepsy Society. So when I talk about our partner organizations, it gives me an opportunity to say thanks, because we do rely heavily on those groups. Many of those folks are also here today. And I really want to make sure that their voices are eventually heard, if not heard during this meeting. And I want them also to know how grateful and gracious I am for all what they do and the tireless work that they put in. So a huge thanks to all of them. And I can't obviously list them all on the slider. I'd take up the entire symposium. So let's talk about the causes of epilepsy. And many of you are aware of some of this information, that 40% do not know the reason their child has epilepsy or seizures. And one-third of children without an underlying cause have not had genetic testing. And amongst child neurology providers, 20% of their epilepsy patients don't know or don't have an underlying etiology. And 88% report talking about genetic testing to patients without a known cause. But how does that translate when we look at it a little deeper? We had an opportunity to do a pilot program offering whole genome testing to certain populations of patients. And it was a really awesome project that was supported by educational grant. And I won't go into those specifics. But I will go into this idea of what we learn from that topic. That more clinicians were skeptical of the value of whole genome versus like some of the other tests that you're more familiar with and you'll hear about more today. And that 37% of the clinicians didn't believe it would give a diagnosis or change a treatment. 10% of families believed that it wouldn't give or change their diagnosis or treatment. And other families worried about insurance coverage. You know, 21% of clinicians believed that there is going to be no time where insurance would cover a whole genome. And 60% felt the same way. And I think that speaks to the relatively newness of obviously that technology. But the evolving nature of it is something that we'll have to keep in mind. The other thing I would like to point out, and again, some of this is information that you already know, but it's important to us to cover, that 70% of those with a diagnosis had genetic testing. And 42% of children got the diagnosis from their whole exome sequencing. 30% of children got the diagnosis from whole genome after all the other genetic testing have failed. So even beyond what we traditionally have been offered, we have now learned that perhaps there's opportunity to further identify etiologies with advancing technologies. When we asked about which patients or pediatric patients would you consider genome testing or whole genome testing, 41% said for all epilepsy patients, which I thought was fairly interesting information, where 23% said for those that had treatment-resistant epilepsy. 19% for those that had possible treatment options based on results, so if there were potential opportunities to identify that. And then 11% said none, meaning that's not going to be useful at all. What that really tells us, or what I feel like it tells me, is there's no real standard as it relates to what and how we offer this type of modality. And that may speak to other genetic modalities that you're, again, going to hear more about from our experts today. But I think the search for a diagnosis and for genetic testing is there. 72% are needed. 72% of families without a diagnosis are interested in getting genetic testing. They report that only 35% have talked to their neurologist about it. So there's a disconnect amongst their need and wants versus comfortability talking to us as providers. And of those that didn't talk about it, 32% reported that the child's doctor was not able to answer all their questions about genetic testing. That does not mean the child neurology provider or adult provider was being flippant or not educated. It's we haven't done a good enough job providing those resources and education so they felt comfortable in that conversation. A gap. The other thing that's important is families and clinicians agree that the genetic testing would be helpful. So when we asked about that, that 92% of families still searching for a diagnosis thought that, okay, the testing would be helpful. 42% of families thought the reason for their child's epilepsy would be extremely helpful to even if it didn't change their treatment. And if you've been in a clinic with a mom or a dad or caregiver and talk about a genetic diagnosis that you know potentially has very devastating results, one of the things I've observed is this calmness because the beast has a face and a name and perhaps an advocacy group or even treatments or trials. So there is importance in that even if it's not going to change your treatment. The other thing I think is important is we as child neurology providers felt that a genetic cause should be sought. So it matters. Amongst families, 39% said it changed their treatment when they did get that diagnosis. So 39% of patients after getting a genetic diagnosis said something changed because of that. So, you know, when we teach our trainees, don't order tests unless you're going to do something with the results. 39% we did something with the results or people did. 78% said it connected them to other families, organizations, communities. I tell a quick story about a patient who got a rare genetic diagnosis made by Tammy, our genetic counselor, who you're going to hear from later. And that family then found some other families across Facebook. And that family found somebody that was very like their child in Germany and said to me, would you be open to trying the combination of anti-seizure medications that this child has in Germany? And they were scared to tell me that. And of course I said, yeah, what the heck do I know? Nothing I'm doing is working. That kid has been seizure free for three years. It changed the treatment because I connected to families through different avenues. That's important. Amongst us, 31% reported always or often being comfortable or being able to customize their treatment plan. And even we are saying it's changed us after the diagnosis. And 60% reported it's always or often helping make these connections. So it makes our job easier. Even though I might not be able to do anything specifically to help their seizures or treat them any better, I can at least connect them to resources that are very important. So there is an impact on clinical care and practice. And there's a need to dive deeper into identifying causes of epilepsy. We're by no means done, even with our current technologies. Families and clinicians need to be effectively communicated amongst to know about the options that they have and how to find those causes. And selfishly and kind of full disclosure, we're here to help. So again, I'm very powerfully honored to be a part of Child Neurology Foundation. But we are here to help because we recognize and see that need. So use the QR code at your table to find a handout that you could give to families to connect to us that we can do things around shortening the diagnostic odyssey, which I hope you'll hear about today, or other things that you see listed in front of you.

genetic testing

epilepsy

patient outcomes

communication gaps

Child Neurology Foundation