Selected Podcast
Genomic Answers for Kids Establishes New Paradigm in Rare Disease Research
The Children’s Mercy Research Institute® is undertaking a research initiative to build a first-of-its-kind pediatric data repository to facilitate the search for answers and novel treatments for pediatric genetic conditions. Our goal is to collect genomic data and health information for 30,000 children and their families over the next seven years, creating a database of nearly 100,000 genomes.
Featured Speaker:
Learn more about Tomi Pastinen, MD, PhD
Tomi Pastinen, MD, PhD
Tomi Pastinen, MD, PhD is Director of the Genomic Medicine Center at Children's Mercy Kansas City.Learn more about Tomi Pastinen, MD, PhD
Transcription:
Melanie: Welcome to Transformational Pediatrics with Children's Mercy Kansas City. I'm Melanie Cole.. And today, we're discussing how Genomic Answers for Kids establishes a new paradigm in rare disease research. Joining me is Dr. Tomi Pastinen and he's the director of the Genomic Medicine Center at Children's Mercy Kansas City. Dr. Pastinen, pleasure to have you join us today. What is Genomic Answers for Kids? How did this come about and why did you see a need?
Dr Tomi Pastinen: Well, thanks for having me, first of all, and I'm really excited to tell about our Genomic Answers for Kids Program. The program is a research initiative where we've tried to find answers and ultimately novel treatments for children with rare disease. And to get there, we have to first build a comprehensive data repository of the genomes of kids with rare disease.
And if we get to build this data repository, we will be able to help families to find diagnosis at much shorter time than they do today, as well as find diagnosis for more rare disease kids because, unfortunately, two-thirds of kids with rare disease remain undiagnosed today with current clinical assays.
Melanie: Well, thank you for telling us about it, Dr. Pastinen. So how many patients and families are currently involved in the program and how many will be involved when it's complete?
Dr Tomi Pastinen: So currently in Genomic Answers for Kids, we have nearly 2,500 families that are enrolled in the study. So because we studied genetics of disease, we don't only look at the patient, a child with the disease, we need the parents and any additional family members that may be affected by something similar. So we have over 6,000 individuals included from this nearly 2,500 families in our study today.
What we do want to do is actually cover most of the rare disease families in the greater Kansas City area of 5.2 million people and have ultimately a database or 30,000 families, nearly 100,00 genomes across all these family members over the next seven years. So we started this 2019, so five years from now, we hope to be close to that a hundred thousand genome mark.
Melanie: So tell us about how the results from this genetic testing look a little different than results from other tests.
Dr Tomi Pastinen: So currently, the clinical sequencing of human genome looks at only a small slice of the DNA called the coding regions. And the interpretation of that 1.5% of the human genome is probably one of the reasons why only one-third of the families receive an answer today when a physician suspects a genetic disease.
So we actually sequence the whole genome and we sequence it comprehensively. So we use technologies that are not yet in clinical use. We are in the process of validating this clinically, but they look at much greater proportions of the human genome. Actually, if you go today to a clinical lab that says that they're sequencing the whole genome, they're actually only sequencing 90% of the genome. We want to sequence the whole genome and find all the answers.
Melanie: That's so interesting, Dr. Pastinen. So what makes the approach of your program unique from other research projects we hear about?
Dr Tomi Pastinen: Well, what's really unique about our program is the inclusiveness of the program. So whenever a physician thinks about a genetic disease, we are willing to take this family into our study and we don't discriminate patients based on their insurance reimbursements or anything of that nature. Any kid that may have a genetic disease is eligible to our study and it goes beyond the walls of Children's Mercy.
And that's one of the key things, is to be able to work across the institutions in the US and actually beyond. We are receiving samples also from Canada. And while most of the samples currently are coming from Children's Mercy, we are touching currently nine different states and Canada with our patients sampling and returning results to these families, because rare disease requires collaboration across children's hospitals and other healthcare institutions.
Melanie: Well, that segues very nicely into the approach that you're taking with these families. Are you taking a multidisciplinary approach? And why would that be so important for these kids and their families?
Dr Tomi Pastinen: So an example of importance of multidisciplinary approach comes from a story that we were able to elucidate for the Eisenberger family. Two brothers, Caden and Ty, have been suffering from a rare accumulation of fat in their upper body and their liver. And that was of course very troubling for the family and for these teenage boys. And they have been looking for an answer for years. And by inclusion of Caden and Ty into our study, we were able to find reason, a mutation in a gene called MSN2, which causes a very rare form of fat accumulation.
And why it was important and why it was interdisciplinary was that by finding that extremely rare mutation only described eight times globally in anyone. We also were able to link them to a physician in Michigan who studies this extremely rare disease and who was able to help our care team here for management of the brothers and help them go through some symptom-alleviating surgery. And this is really the point, is trying to link dots together through the molecular answers that we find by sequencing the genome. And in some cases like in this one, there's actually an intervention that is based on that molecular finding.
Melanie: Well, then along those lines as well, what kind of support do these families receive while they're in the program?
Dr Tomi Pastinen: So obviously, we are very careful in approaching families in a sensitive, delicate manner because often the families may have had just learnt the devastating news of their child is suffering from a chronic condition. So one of the things for us is to work very closely with the providers to make sure that this is the right time to talk to the family about the research study. So that's kind of the first level of support, approaching the families appropriately in their course in finding the answer.
And once that's done, what rare disease families that enroll into our study really want to have is an answer. And that's the greatest care that we can give is we provide the answer to their clinical providers on their molecular test results. And this really alleviates the frustration and discomfort that the family has gone through often for years. So an average family that is enrolled into our study has waited for an answer four to five years and that's really what we call a diagnostic odyssey. And that's the care we can provide most efficiently. And then the providers that are involved in the study, who we give the result to, are able to tailor to followup and potential treatment like in Caden's and Ty's story to the condition that we elucidated.
Melanie: And doctor, as we're getting ready to wrap up for those listening today, how can they get involved? And what would you like other providers to take away from this episode about getting involved in your Genomic Answers For Kids Program at Children's Mercy Kansas City?
Dr Tomi Pastinen: The key thing I would want providers to know that we are open for business. If they have a particularly difficult case in which answer has been sought for a long time, we are definitely the place to go. If they have families that have poor access to genetic testing, we are the place to contact.
And in general, if you consider a genetic disease a potential cause of the patient's illness, you should contact us. And the way to contact us is really easy. You can send an email to us at This email address is being protected from spambots. You need JavaScript enabled to view it.. So that's just an email, This email address is being protected from spambots. You need JavaScript enabled to view it.. Or you can call our recruitment team at (816) 915-4200. That was (816) 915-4200.
So we have multiple ways of getting involved. And looking for Genomic Answer For Kids by Google search, you'll get to our page and you'll be able to look through our progress and see overall what the program is about and share that with patients. We want the providers to mention to the patient that they may be contacted by our study team, because the key resource that we have with the providers is the relationship that the provider has with the patient. And once we have that relationship transferred to us, we are much more successful in recruiting the family into our study.
Melanie: Thank you so much. And I hope you'll join us again, Dr. Pastinen, and update us as the program continues. And to refer your patient or for more information on Genomic Answers For Kids at Children's Mercy Kansas City, please visit Children'sMercy.org to get connected with one of our providers. This has been Transformational Pediatrics with Children's Mercy Kansas City. Please remember to subscribe, rate and review this podcast and all the other Children's Mercy podcasts. I'm Melanie Cole.
Melanie: Welcome to Transformational Pediatrics with Children's Mercy Kansas City. I'm Melanie Cole.. And today, we're discussing how Genomic Answers for Kids establishes a new paradigm in rare disease research. Joining me is Dr. Tomi Pastinen and he's the director of the Genomic Medicine Center at Children's Mercy Kansas City. Dr. Pastinen, pleasure to have you join us today. What is Genomic Answers for Kids? How did this come about and why did you see a need?
Dr Tomi Pastinen: Well, thanks for having me, first of all, and I'm really excited to tell about our Genomic Answers for Kids Program. The program is a research initiative where we've tried to find answers and ultimately novel treatments for children with rare disease. And to get there, we have to first build a comprehensive data repository of the genomes of kids with rare disease.
And if we get to build this data repository, we will be able to help families to find diagnosis at much shorter time than they do today, as well as find diagnosis for more rare disease kids because, unfortunately, two-thirds of kids with rare disease remain undiagnosed today with current clinical assays.
Melanie: Well, thank you for telling us about it, Dr. Pastinen. So how many patients and families are currently involved in the program and how many will be involved when it's complete?
Dr Tomi Pastinen: So currently in Genomic Answers for Kids, we have nearly 2,500 families that are enrolled in the study. So because we studied genetics of disease, we don't only look at the patient, a child with the disease, we need the parents and any additional family members that may be affected by something similar. So we have over 6,000 individuals included from this nearly 2,500 families in our study today.
What we do want to do is actually cover most of the rare disease families in the greater Kansas City area of 5.2 million people and have ultimately a database or 30,000 families, nearly 100,00 genomes across all these family members over the next seven years. So we started this 2019, so five years from now, we hope to be close to that a hundred thousand genome mark.
Melanie: So tell us about how the results from this genetic testing look a little different than results from other tests.
Dr Tomi Pastinen: So currently, the clinical sequencing of human genome looks at only a small slice of the DNA called the coding regions. And the interpretation of that 1.5% of the human genome is probably one of the reasons why only one-third of the families receive an answer today when a physician suspects a genetic disease.
So we actually sequence the whole genome and we sequence it comprehensively. So we use technologies that are not yet in clinical use. We are in the process of validating this clinically, but they look at much greater proportions of the human genome. Actually, if you go today to a clinical lab that says that they're sequencing the whole genome, they're actually only sequencing 90% of the genome. We want to sequence the whole genome and find all the answers.
Melanie: That's so interesting, Dr. Pastinen. So what makes the approach of your program unique from other research projects we hear about?
Dr Tomi Pastinen: Well, what's really unique about our program is the inclusiveness of the program. So whenever a physician thinks about a genetic disease, we are willing to take this family into our study and we don't discriminate patients based on their insurance reimbursements or anything of that nature. Any kid that may have a genetic disease is eligible to our study and it goes beyond the walls of Children's Mercy.
And that's one of the key things, is to be able to work across the institutions in the US and actually beyond. We are receiving samples also from Canada. And while most of the samples currently are coming from Children's Mercy, we are touching currently nine different states and Canada with our patients sampling and returning results to these families, because rare disease requires collaboration across children's hospitals and other healthcare institutions.
Melanie: Well, that segues very nicely into the approach that you're taking with these families. Are you taking a multidisciplinary approach? And why would that be so important for these kids and their families?
Dr Tomi Pastinen: So an example of importance of multidisciplinary approach comes from a story that we were able to elucidate for the Eisenberger family. Two brothers, Caden and Ty, have been suffering from a rare accumulation of fat in their upper body and their liver. And that was of course very troubling for the family and for these teenage boys. And they have been looking for an answer for years. And by inclusion of Caden and Ty into our study, we were able to find reason, a mutation in a gene called MSN2, which causes a very rare form of fat accumulation.
And why it was important and why it was interdisciplinary was that by finding that extremely rare mutation only described eight times globally in anyone. We also were able to link them to a physician in Michigan who studies this extremely rare disease and who was able to help our care team here for management of the brothers and help them go through some symptom-alleviating surgery. And this is really the point, is trying to link dots together through the molecular answers that we find by sequencing the genome. And in some cases like in this one, there's actually an intervention that is based on that molecular finding.
Melanie: Well, then along those lines as well, what kind of support do these families receive while they're in the program?
Dr Tomi Pastinen: So obviously, we are very careful in approaching families in a sensitive, delicate manner because often the families may have had just learnt the devastating news of their child is suffering from a chronic condition. So one of the things for us is to work very closely with the providers to make sure that this is the right time to talk to the family about the research study. So that's kind of the first level of support, approaching the families appropriately in their course in finding the answer.
And once that's done, what rare disease families that enroll into our study really want to have is an answer. And that's the greatest care that we can give is we provide the answer to their clinical providers on their molecular test results. And this really alleviates the frustration and discomfort that the family has gone through often for years. So an average family that is enrolled into our study has waited for an answer four to five years and that's really what we call a diagnostic odyssey. And that's the care we can provide most efficiently. And then the providers that are involved in the study, who we give the result to, are able to tailor to followup and potential treatment like in Caden's and Ty's story to the condition that we elucidated.
Melanie: And doctor, as we're getting ready to wrap up for those listening today, how can they get involved? And what would you like other providers to take away from this episode about getting involved in your Genomic Answers For Kids Program at Children's Mercy Kansas City?
Dr Tomi Pastinen: The key thing I would want providers to know that we are open for business. If they have a particularly difficult case in which answer has been sought for a long time, we are definitely the place to go. If they have families that have poor access to genetic testing, we are the place to contact.
And in general, if you consider a genetic disease a potential cause of the patient's illness, you should contact us. And the way to contact us is really easy. You can send an email to us at This email address is being protected from spambots. You need JavaScript enabled to view it.. So that's just an email, This email address is being protected from spambots. You need JavaScript enabled to view it.. Or you can call our recruitment team at (816) 915-4200. That was (816) 915-4200.
So we have multiple ways of getting involved. And looking for Genomic Answer For Kids by Google search, you'll get to our page and you'll be able to look through our progress and see overall what the program is about and share that with patients. We want the providers to mention to the patient that they may be contacted by our study team, because the key resource that we have with the providers is the relationship that the provider has with the patient. And once we have that relationship transferred to us, we are much more successful in recruiting the family into our study.
Melanie: Thank you so much. And I hope you'll join us again, Dr. Pastinen, and update us as the program continues. And to refer your patient or for more information on Genomic Answers For Kids at Children's Mercy Kansas City, please visit Children'sMercy.org to get connected with one of our providers. This has been Transformational Pediatrics with Children's Mercy Kansas City. Please remember to subscribe, rate and review this podcast and all the other Children's Mercy podcasts. I'm Melanie Cole.