Genomics and precision medicine are becoming pillars of health care, but how do they apply to pediatrics — and how can we ensure equitable access? Dr. Pankaj B. Agrawal, principal investigator (PI) of the NIH-funded Virtual Genome Center for Infant Health (VIGOR)*, visited us in our mobile podcast studio at the Pediatric Academic Societies (PAS) 2023 annual meeting to discuss that and much more!
Plus, hear the voices of PAS participants with their definitions of the phrase “well beyond medicine.”
Pankaj Agrawal, M.D., MMSc, Chief, Division of Neonatology, University of Miami Jackson Health; Chair, Project Newborn; and Professor of Pediatrics and Genetics, University of Miami Miller School of Medicine
Subscribe, review or let your voice be heard at NemoursWellBeyond.org.
*The NIH-funded VIGOR study has created partnerships to develop and implement a novel virtual model for genomic care with the hopes of proving that tele-genomic care is feasible and reproducible to any Neonatal Intensive Care Unit (NICU) — increasing accessibility and equity for all families.
Carol Vassar, podcast host/producer (00:00):
Welcome to Well Beyond Medicine, the Nemours Children’s Health podcast. Each week we’ll explore anything and everything related to the 80% of child health impacts that occur outside the doctor’s office. I’m your host, Carol Vassar. And now that you are here, let’s go.
Well Beyond Medicine!
Carol Vassar, podcast host/producer (00:27):
Joining me from the meeting of the Pediatric Academic Society’s PAS in Washington DC at this time is Dr. Pankaj B Agrawal. He is chief of neonatology, chair of Project Newborn, and Professor of Pediatrics and Genetics at the University of Miami Jackson Health. Dr. Agrawal is new to this role. He arrived at the University of Miami in February of 2023. You came from Boston Children’s, where you were the director of the Neonatal Genomic Program and served as medical director of the hospital’s Manton Center for Gene Discovery. Welcome, doctor.
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (01:08):
Oh, thank you so much. I’m so excited to be here.
Carol Vassar, podcast host/producer (01:11):
You are very excited. I guess you were here yesterday and asking when you could be on.
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (01:15):
Carol Vassar, podcast host/producer (01:15):
So we’re so grateful to have you.
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (01:16):
Carol Vassar, podcast host/producer (01:17):
And we love the passion and excitement. I want to talk to you before we get to the work that you’re doing, the research you’re doing, the move to Miami. I want to talk about you. How did you decide to go into medicine and what made you choose genetics and the world of pediatric medicine and genomics in particular?
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (01:39):
Yes. A lot of it was serendipity, I would say. My brother, who happens to be a physician, he used to tell me stories. He’s older to me, and he used to tell stories about medical school and how much fun it is to work with so many people and sort of see patients. So I got inspired by him and that’s when I decided to do medicine. And then my natural inclination is pediatrics, is working with kids is just such a privilege I think that I chose pediatrics. And then neonatology was something. It also happened. I thought it would be a great career because newborns are at the junction of life starts at newborn age, so I can make a difference there. And then genetics, as a fellow, I was taking care of a few babies that we could not make a diagnosis for. And they had certain genetic conditions and took us months and months to find the cause.
And that was the sort of turning moment for me to really look into genetics as an area of research. And I did a master’s at Harvard in medical science where there was a course on genomics. And that really inspired me to go into my research into genomics.
Carol Vassar, podcast host/producer (02:52):
Talk about genomics. Give us the 20,000-foot view of what genomics is for those who may not know.
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (02:59):
Yeah. Genomics is basically trying to understand what every base pair in our body. We have two gigabytes of these letters, A-T-C-G, and we don’t know what they do. A lot of them we don’t understand. So the whole body function, every cell that works, is all regulated by our genome. So think of four letters, A, T, C, and G, controlling our lives and how they can make us different and how diseases develop. All this is super exciting. And we still don’t know a lot of these things, which we are trying to figure out. So it’s a very active research area as well. So there are a lot of reasons why I love to work on genomics. Genomics is my passion, and I feel like even if I can make a difference in one life, I feel like it’s worth my time and my efforts.
Carol Vassar, podcast host/producer (03:52):
Those four letters put together in very different ways, very different outcomes.
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (03:57):
Carol Vassar, podcast host/producer (03:57):
And that’s what we’re trying to crack the code on, really.
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (04:00):
Carol Vassar, podcast host/producer (04:01):
So talk about genetic sequencing. That’s really the basics of genetic sequencing, but give us the real view from your perspective.
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (04:09):
Yeah, this technology started to develop in the late 1990s when we sequenced the human genome. And then we finally had the tools to really do it at a much more rapid pace. So that started in like 2008, 2009. And since then, we have been able to really implement all these sequencing technologies in the clinic. And that’s making a huge difference in the care of our babies and many children and patients to really get to the bottom of their conditioning. So the whole technology has caught up, and that is so exciting that finally we have arrived where we can use all these tools, and they’re getting cheaper as well to really get to the bottom of a lot of these conditions.
Carol Vassar, podcast host/producer (04:53):
So that’s really how it’s helpful to you as a medical professional, getting those sequences in the right sequence and figuring things out. How is it applied in pediatric research?
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (05:05):
It is applied in at so many ways. Let’s go with neonatology. So neonatology, first of all, about 10 to 20% of our babies don’t have a diagnosis when they’re born. And a lot of them have an underlying genetic condition. Now with these sequencing technologies, we can get to the bottom of what they’re affected by. Sometimes parents blame themselves, maybe they did something wrong, they ate something, or they had a fever or something else happened and that’s why their child … So they often blame themselves. But if you can find the cause and say that this is what the cause, that’s why your child has this condition, they are relieved that at least they have nothing to blame themselves. But the most important thing is that we can also find treatments that is designed as precision medicine. We can design something specific for their child. And that time is coming. So if you cannot get to the bottom of the diagnosis, we cannot find treatment. And that’s just so exciting about this.
Carol Vassar, podcast host/producer (06:02):
And it’s really personalized precision medicine in many ways based on the genome of that particular child.
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (06:09):
Yes, exactly. And in fact, I was involved in a case where we did develop a drug specific for that child, and that prolonged her life for a few years and really helped with that. And that was a revolutionary approach to a [inaudible 00:06:24], as we call it, the case where we can really work on finding new therapies.
Carol Vassar, podcast host/producer (06:28):
That must be very rewarding.
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (06:28):
It’s very rewarding.
Carol Vassar, podcast host/producer (06:30):
And there’s going to be more of that coming, isn’t there?
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (06:32):
Carol Vassar, podcast host/producer (06:33):
Not just one baby here and there, it’s going to be generally worldwide.
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (06:39):
Carol Vassar, podcast host/producer (06:39):
Let’s hope cross our fingers.
Dr. Pankaj B Agrawal, University of Miami/Jackson Health(06:41):
Yeah, it is going to take time. I think the problem right now we have is that our neonatologists are not fully aware of the potential of this technology. So my goal is to really spread the word that this is coming, and this is one of the ways we can help our patients. So that’s where I feel like we can really make a difference.
Carol Vassar, podcast host/producer (07:02):
You’ve done some fantastic research, and you are the principal investigator for the Virtual Genome Center in Infant Health Project known as Vigor. It’s funded by the NIH to the tune of $5.4 million. Tell us about the work you and your colleagues are doing here.
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (07:18):
Yeah, so what started as an idea when I was visiting one of the NICUs, which is not like a hospital-based huge NICU, which has a lot more resources, and they said that we can start to send some sequencing, but we don’t know how to interpret it or often we cannot send it. So that sort of gave me an idea that why don’t we build something where we can help those types of NICUs? There are many of those, or maybe almost 90% of NICUs don’t have the resources like geneticists or genetic counselors, or other people who can help them. So why not we make a virtual center where we can not only help them with sequencing but also help them manage their patients?
And the patient does not have to be moved from that hospital to a level three, level four hospital or a bigger children’s hospital type of thing. And that can save the families. They can stay with the families, and we can remotely help them to diagnose and then also help them manage. So that’s where we started. And then we had four centers within Massachusetts and New Jersey join us, and now we are getting it to Miami as well. And any NICU that does not have the support of genetics and sequencing technology, we can help.
Carol Vassar, podcast host/producer (08:33):
It’s really important to have that team around the center in the research that you are performing. Talk about the role of the different team members, specifically the genetic counselors. They play a really key role.
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (08:45):
Yes. So what we are trying to do is that we have a project manager who’s a genetic counselor, and she is helping with every aspect of the project. So she’s helping with enrollment of the patient because it is an IRB-approved, NIH-funded study. We get the approval from the families, we make sure the samples are sent correctly, and then we get the results. And we also get the data, and we analyze it in our own core teams. So we have a team of bioinformaticians, postdocs, and research assistants. They all work together along with the genetic counselor, who then makes sure that the results that we get from this sequencing is conveyed to the families in a correct manner. So what we are trying to do is to really train the neonatologists on how to disclose these results to the families. And our genetic counselor is helping them to make sure that they feel supported. So the goal is to really train neonatologist, and genetic counselor is helping in that role.
Carol Vassar, podcast host/producer (09:46):
Let’s talk about the role of the family. This, to many families, is probably some sort of almost miracle treatment or I hate to say the word cure, but how are families reacting to the idea of genomic sequencing use, of genomics, in treating their kids?
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (10:04):
I would say that, in certain ways, the families are ahead of the physicians because they really understand that this is so important for them. And sometimes, they are the ones who are pushing. For example, one of my patients who was in the NICU and sadly died, we could find the cause of the disease in their child. And then that family was so thankful that they started to do fundraising for my research. And also, they have two boys who are totally fine based on this diagnosis that we made. So there are families that really want answers. They’re really so much into what happened; how did it happen? And if we can help by using these technologies, I think that’s a great thing. Even if we don’t find an answer, we tried our best. That’s important.
Carol Vassar, podcast host/producer(10:56):
And in research, there is a lot of failure.
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (11:00):
Yes, yes. So when we do sequencing, about 25% to 30% of cases, we can find a cause. But for the remaining 70%, 75%, we don’t have a cause. But what we do then we do research on those cases. We get the data, we look at ourselves, and in another 30%, 35% of cases, we can find an answer for them.
Carol Vassar, podcast host/producer (11:19):
You get up, and you try again.
Dr. Pankaj B Agrawal, University of Miami/Jackson Health(11:21):
Yeah, we keep trying. We keep trying.
Carol Vassar, podcast host/producer(11:22):
Are you still practicing clinically?
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (11:25):
I do, yes. Yeah, that’s where I get my inspiration from.
Carol Vassar, podcast host/producer (11:29):
Talk about that.
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (11:30):
Yeah. Because as I told you, my whole interest in genomics started from taking care of these couple of babies who just did not have a diagnosis. And then this family that I was telling you about, I happened to be on a Sunday morning taking care of this baby, and I realized that maybe something underlying genetic and found the cause for them. So we are encountering such patients every day. So these are the patients that I get inspired by. So in addition to just making a difference and taking care of babies, this is such a privilege. I feel like it’s also for this type of patients, I have the unique skill and team to help me get to the bar.
Carol Vassar, podcast host/producer (12:11):
I want to turn the conversation a little bit toward health equity. Health equity is a movement in healthcare and a great movement in healthcare. How does that fit in with the research that you’re doing, and what’s your kind of philosophy on health equity?
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (12:26):
Yeah. No, that’s a great question. I think the health equity is … We are talking a lot about it these days, but I think that the project [inaudible 00:12:35] Vigor is really an example of what we are trying to do. We want these NICUs that are under-resourced and don’t have the funds to sequence babies, or they don’t have funds to interpret findings. We are all helping them by supporting, using our infrastructure. So if a baby is born in a very big hospital, think of Boston Children’s or [inaudible 00:12:59], the sequencing chances are a lot higher than if you’re born in a small community. But if we can support those community hospitals by telemedicine, in some ways, I feel like we are even getting ahead of these big hospitals because we can do it a lot faster.
Carol Vassar, podcast host/producer (13:14):
You’re doing it virtually.
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (13:15):
Carol Vassar, podcast host/producer (13:16):
So it’s available where maybe there isn’t a large city center like Boston, New York, Miami of healthcare availability, which is certainly speaks to health equity. Let’s talk about some of those barriers that are faced by patients living in a rural area is just one. What other barriers do you see your patients coming up against?
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (13:39):
The biggest barrier, I think, is awareness. That there is still a lack of awareness of this approach, of this technology, of this way of really getting to the bottom of the condition. So, for example, when I started doing this work at my previous hospital, initially, there was resistance to this. They said, “Whether or not you get a name from this condition, how does it matter?” But within a few years, once we showed how it impacts care in so many different ways, they turned around, they said, “This is the best thing to happen in the last ten years or 15 years,” because it really, they can see in front of their eyes that this is really making a difference in so many ways. So we can send, sometimes there are other clinicians that need to be involved. Sometimes we can get treatments faster. There are so many ways that sometimes families have an answer; they can use it for their next child. There’s so many ways it can make a difference.
Carol Vassar, podcast host/producer (14:34):
You’re here at PAS. How has your time been here? How have your presentations gone? Any highlights that you were taking away and bringing back to Miami and bringing back to Florida?
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (14:44):
Yeah, I think that this conference has been amazing. I did a session or a teaching course for genomics and newborn care, and then I called speakers from all around the country who are world experts in their field so that we can, again, inspire the next generation of neonatologists to be involved in this field. Because that’s my goal, is to really get the next generation of our physicians, neonatologists, to be excited about this and get into it. And it has been very successful. And I’m also networking with a lot of people so that we can tell them that this is available. Think of joining us. And we can grow this to a lot more NICUs who don’t have those resources.
Carol Vassar, podcast host/producer (15:26):
Do you see genomics as the future of medicine?
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (15:29):
I think genomics is part of it. It’s not the role, but it has a major role to play. And we cannot ignore it. There is other technologies like multiomics, transcriptomics, proteomics, and we are using all these tools in our research. They’re not so much into clinical cares at this time, but that may be the next thing to come. But genomics is the big part. So yeah, it is coming.
Carol Vassar, podcast host/producer (15:54):
What kind of awareness do you want to raise with patients and families in particular? I know you’re looking to nurture that neonatology track of new researchers and new doctors coming into the field, but what do you want parents and families to be aware of?
Dr. Pankaj B Agrawal, University of Miami/Jackson Health (16:11):
I think the parents and families, I want to tell them that they should not give up. They should just not fully rely a hundred percent on their medical team. You should think of is there something there someone can else can do. So I know that the families are very active and they want answers. So they need to keep pushing. They should not give up.
Carol Vassar, podcast host/producer (16:41):
Thanks for listening to our conversation on genomics in pediatric healthcare with Dr. Pankaj B Agrawal, Chief of Neonatology and Professor of Pediatrics and Genetics at the University of Miami Jackson Health. We recorded this interview with Dr. Agrawal at the 2023 meeting of the Pediatric Academic Societies, PAS, in Washington DC.
One recurring theme we heard from people visiting our mobile podcast studio at PAS is that there are numerous definitions of the term well beyond medicine. Here are the voices of a few of the people from our time there with their own definitions of Well Beyond Medicine.
PAS Attendee 1 (17:24):
Research, to me, in a way, is Well Beyond Medicine because research doesn’t really have too many borders. We can kind of go as far as we want to go from looking at something very minute and very specific to something very broad.
PAS Attendee 2 (17:43):
Well Beyond Medicine to me means addressing those barriers outside of the hospital, meaning going beyond medicine and addressing some of those social determinants of health, so going upstream in healthcare. I think Well Beyond Medicine acknowledges so much of what our folks do outside of their job.
PAS Attendee 3 (18:10):
For me, Well Beyond Medicine is reaching out and having the conversation, educating parents, families, providers, payers. It’s critical that we are all unified in message and providing that access. So I think that would be a truly game-changing opportunity.
PAS Attendee 4 (18:28):
I think we’re advocates for our communities. We’re advocates for the children and the families that we’re taking care of. I think it means that we’re not going to put healthcare into a box. I think health it’s something that’s nuanced. I think it’s something that’s kind of a living type organism that continues to grow and expand. And it’s going to be different from one place to the other, so I think we’re going to be flexible in the way that we think about how to take care of children. And that is what I think is going to be pretty exciting about the future.
Carol Vassar, podcast host/producer (19:04):
Thanks to Jennifer, Drew, Mario, and Jonathan for sharing with us their definitions of Well Beyond Medicine and lending their voices to the podcast. What about you? How would you define Well Beyond Medicine? Continue the conversation by leaving us a voice memo at nemourswellbeyond.org. That’s nemourswellbeyond.org. Just click the little red microphone icon in the middle of the screen, and your voice memo gets to our team as soon as it’s finished. You can also share your episode ideas and feedback on this or any episode the very same way. While you’re there, check out our other episodes, subscribe to the podcast, and leave a review.
Thanks to Che Parker, Cheryl Munn, Susan Masucci, and Jennifer Rearden for this week’s production assistance. Join us next week as we discuss the cutting-edge research being done by neonatologist Dr. Brett Manley of the University of Melbourne. He and his team are leading the way in treating an all-too-common- complication of preterm babies, bronchial pulmonary dysplasia, or chronic lung disease of prematurity. Until then, remember, together, we can change children’s health for good, Well Beyond Medicine.
Well Beyond Medicine!