Melanie Cole (Host): Shriners Chicago Hospital has a new Genomics and Precision Medicine Project that may provide breakthrough medical care for specific conditions in the year ahead. Welcome to Pediatric Specialty Care Spotlight with Shriners Hospitals for Children in Chicago. I'm Melanie Cole, and we have such an exciting show today, as we're talking about new genomics and precision medicine research at Shriners Chicago.

Joining me is Talia Plotkin. She's the Clinical Research Coordinator at Shriners Hospitals for Children in Chicago. Talia, thank you so much for joining us today. I'd like you to start by giving us a little lesson. People hear these words, genetics, genomics, and they're not sure what that is. Can you tell us the difference?

Talia Plotkin, OTR/L (Guest): Yes, You bet. Well, thanks for having me. When we think of genetics, essentially it's genetics is the study of heredity. So, heredity or how characteristics of living organisms are transmitted from one generation to the next, essentially via our DNA. So, DNA is what comprises our genes and that's the basic unit of heredity. So that's what we're talking about when we talk about genetics. Genomics is essentially the study of the entirety of an organism's genes. So, the genome is our complete set of DNA. DNA meaning the building blocks of our human body, the molecules that contain all those little nucleotides that some of us remember learning about in our high school science class that -

Host: Yeah, we did.

Talia: Yeah. That make up our chromosomes. So those are, are what make up our genes. And then our genes sort of have the instructions to make a protein and the proteins make our body work. So, our genome is sort of the whole thing. And genomics is sort of the study of the entirety of an organism's genes or the genome, if that makes sense, trying to put it in a nutshell.

Host: No. That was a great explanation. Thank you so much. You made it very understandable. So, the Chicago Shriner's Hospital offers appointments with geneticists and genetic testing related to certain conditions. This is not the same as that, right?

Talia: So correct. It is not the same. So, the project I'm working on is called the Genomics and Precision Medicine Project, and that is considered research. And we can dive into that in a bit, but basically, when you come and visit one of our geneticists, that would be for genetic testing related to a particular medical condition. And that would be for clinical and diagnostic purposes.

When you participate in our Genomics and Precision Medicine Project, that is strictly for research. You find the results of the whole genome sequencing that is done on you. It just goes into a database that is then studied. So, visiting one of our geneticists would be for clinical purposes and participating in our Genomics and Precision Medicine Project would be strictly for research.

Host: Well, since you're a Clinical Research Coordinator, what is whole genome sequencing? How does that help really? And you've explained the difference with genetic testing, but what is whole genome sequencing?

Talia: So, whole genome sequencing is sort of determining the order of all the nucleotides in an individual's DNA and basically looking at that whole genome. So, we have pretty amazing technology now to do what's called next generation sequencing. We can analyze a person's genome relatively quickly now and get a lot of information. And what we're looking for is variants in someone's DNA that may be contributing to medical conditions. And so, by creating a large database when people participate, they're contributing their genomes, but they're also filling out medical health and history questionnaires. So, we're able to compare and sort of see where are variants popping up and with the hope being that we can come up with better precision therapies in the future to address different clinical issues we see and medical conditions that we see here in our hospital. And so that's sort of the whole idea of this. And I guess I should preface this by saying, many years ago Dr. Mark LaLande, who was the VP of Research here at Shriners came together with Dr. Kamran Shazand, and they formed the Genomics Institute. So, the Genomics Institute in Tampa is the sort of the brain behind all of this. And they set out with the ambitious goal to sequence and analyze many samples, as many as they can in order to do this better, this good research. And that is how the Genomics and Precision Medicine Project came about.

Host: Well, that gets me right into my next question. If you would expand on that Genomics and Precision Medicine Project, what makes Shriner's hospitals such a great place for a genomics project like this?

Talia: We are uniquely set up in that we see so many kids with a wide variety of medical conditions. And I think that's what makes us such a good place to do this type of research. And this is a very large system-wide long-term research study that's taking place across all 21 Shriner sites. So, I'm just in Chicago and I'm the coordinator here in Chicago, but there are lots of us working on this across all different sites. And really we are in a great position to do this because we see so many kids every day with unique medical conditions. And so we have a great opportunity here to study those conditions and how our genes and our

Host: We'll expand on that part, just a little bit more for us, as far as the purpose and the goal of this type of a project. What kinds of kids and conditions for parents listening. This is really exciting. High-level it's so advanced and it's just really exciting advanced technology. So, for the parents listening, what is the goal? What kinds of conditions can this really affect?

Talia: So, first of all, in order to participate in our study, patients have to be age four and up. So that's just one of the criteria for eligibility that has been set. So, for this particular larger wide Genomics and Precision Project, patients need to be age four and up, but they can have any type of diagnosis. They can be coming here for any reason. So, anyone is eligible, who is a patient at our hospital, age four and up. And we do have like right now we actually have outside of this larger Genomic and Precision Medicine Project, we actually have two studies connected to the Genomics Institute that we're currently carrying out here related to genomic sequencing.

And one is called the Elucidating the Genetic Architecture of Cerebral Palsy. So we see a lot of kids here with the diagnosis of cerebral palsy. And so that's a multi-site study taking place across five different Shriners hospitals. And it's a collaboration with investigators out of Northern California and the Jackson Laboratory for Genomic Medicine in Connecticut. And essentially they're looking to break the larger diagnosis of cerebral palsy into subtypes and look for genes that are associated with each of those specific phenotypes. So, that's a really exciting one. Another one we have happening too, is the Registry for Arthrogryposis. And arthrogryposis is another diagnosis that we see a lot of at our hospital.

And we have a current study happening right now that's two parts. The first part is simply just a registry for arthrogryposis that investigates the epidemiology, etiology and different interventions. But the part two is a genomics piece. So, also in collaboration with the Genomics Institute. So we have a lot of genomic research happening here specifically to help with kids that have diagnoses that we see on a regular basis, all the time every day. So I really think this is sort of, the wave of the future in terms of coming up with precision medicine and looking at targeted therapies and really taking into account genetics and how your genes and your genome will influence your health. And so hopefully we can get closer and closer to that goal. You know, the more patients we can get into the database then the better research we can do.

Host: Isn't that fascinating what you do? Just fascinating. how do you collect genetic material and what happens to it? Just give us a brief little rundown because then we're going to get into really just how patients and families can participate as we get ready to wrap up. But what happens in the actual study Talia?

Talia: Yeah. Good question. So essentially we have, we brought on a wonderful coordinator. Her name is Christine Kaladon to help us with this study since we knew it would be a large one for our hospital and she's been doing an amazing job at outreach and sort of putting the word out. She puts out a lot of phone calls and pushes into clinic a lot to just sort of give information about the study. We have flyers that we hand out. Once someone is able to sort of have all their questions answered, we go through an informed consent process. And after that is signed, the child would provide a genetic sample in the form of saliva, into a test kit that we have. So, it's about a teaspoon's worth of saliva. And then, the hope, if we can, is to also get saliva collection from parents because genetic research is actually better done when you have trios. Because you can look for variants across generations and that may have been inherited. And so we ask for trios, although it's not necessary to participate in this study. If we can get parents, great.

If we can't your child is still eligible to be in the study. So, we do collect that saliva in the hospital, during a clinic visit and then we have them fill out a medical history questionnaire. So, that is a questionnaire that asks all about your medical history as well, as mom and dad's medical history.

And so then that we hang on to the saliva and keep it in a locked cabinet until it's time to ship to the lab in Tampa at the Genomics Institute. And then they take care of all the sequencing and we enter all the data into the database that needs to get entered. And then I believe the sample is been destroyed once it's been sequenced. And it's about a 30 to 40 minute commitment if a family decides they want to participate between saliva collection and filling out the patient and family questionnaire.

Host: That's good information. Cause they want to know how long it's going to take. So, if people want to get involved, should they call the hospital directly? How do they participate? And please wrap it up with your best information, because this is really exciting advanced technology and it's really, I think the wave of the future is this precision medicine and genomics. Tell people how they can get involved and what you want them to know about this project at Shriners Hospitals for Children in Chicago.

Talia: Sure. Absolutely. So I guess the first thing I want people to know is anyone who's eligible. I think I said this earlier, but any child four and up who comes here for any reason is eligible for this study. So, regardless of medical diagnosis, we're happy to give you all the information and talk to you about this study. You can get in touch with our research department. We have flyers posted kind of all over in the lobby and clinic rooms. There's a QR code on there to make it simple. If you want to do it that way, or my name and number is also on there and email. I'm at 773-385-5834. You can contact me directly or Tplotkin@shrinenet.org.

And then we also, we do put out phone calls sometimes if we see, you know, we'll kind of look ahead to clinics and make phone calls to see if anyone's interested. So, we're just trying to sort of get the word out as best we can. And so everyone knows about it because it's such a widespread study, it's kind of hard to do it all at once. So, it's been a little bit of a slow rollout, but we're getting there. We're making progress.

Host: Well, you certainly are. And thank you so much for joining us today and telling us about these exciting projects going on at Shriners Chicago. To learn more and to make an appointment for a medical evaluation and care for your child at Shriners Chicago, please call 773-385-KIDS. That's 5437, or you can visit our website at shrinerschicago.org for more information, and to get connected with one of our providers.

That concludes this episode of Pediatric Specialty Care Spotlight with Shriners Hospitals for Children in Chicago. Please remember to subscribe, rate and review this podcast and all our other podcasts and parents share these shows with your friends and family on your social channels. We're learning from the experts at the Shriners Hospitals for Children in Chicago together, and they're doing really groundbreaking work. Thank you so much for listening. I'm Melanie Cole.