Precision medicine, personalized medicine, genetic medicine – these are all terms bandied about in the press, but what exactly do they mean? Who better to ask than two Nemours Children’s Health geneticists with 73 years of combined experience in genetics: Dr. Pamela Arn, Division Chief for Genetics, Nemours Children’s Health, Jacksonville, and Dr. Vicky Funanage, Operational Vice President for Research, Nemours Children’s Health.
Carol Vassar, producer
Pamela Arn, MD, Director of Education, Nemours Children’s Health and Division Chief of Genetics, Nemours Children’s Health, Jacksonville
Vicky Funanage, PhD, Operational Vice President of Research, Nemours Children’s Health
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.
MUSIC: Well Beyond Medicine! (00:27)
Carol Vassar, podcast host/producer
Today we’re taking on the topic of precision medicine. I’m joined by Dr. Pamela Arn, division chief for genetics and executive director for education for Nemours Children’s Health, and Dr. Vicky Funanage, Nemours’ operational vice president for research. Dr. Arn is a clinical biochemical geneticist by training. Dr. Funanage’s specialty is molecular genetics. So yes, they are both geneticists. Between them, they have 73 years of experience in their chosen field and at Nemours. Who better to ask to provide us with the answer to the question, what is precision medicine? Dr. Pamela Arn gets us started.
Dr. Pamela Arn, Nemours Children’s Health (01:15):
Precision medicine is basically getting the right diagnosis and the right treatment to the right patient at the right time, is the way I think about it.
Dr. Vicky Funanage, Nemours Children’s Health (01:28):
Absolutely, and I would go on to further say that it’s really what we call a paradigm shift in the way we think about health and healthcare and our approaches to it. So as Pam alluded to, it takes in multiple factors in understanding how to better diagnose, treat, and manage childhood disease. In this case,
Carol Vassar, podcast host/producer (01:53):
We’ve heard a lot about personalized medicine. Is this different? Is it the same? Is there crossover there?
Dr. Pamela Arn, Nemours Children’s Health (02:00):
I think it’s a matter of definition. I think a lot of people when they hear personalized medicine and even precision medicine, the tendency’s to jump right to the genetic medicine and maybe gene therapies and a lot of testing, and certainly, that’s all involved, but it also takes into account patient preference, the environment the patient’s in, what’s going to work for them. And, of course, the basis for all of it are advances in science and advances in the ability to test and diagnose and design precision treatments. But it’s all on that same background of overall taking care of the whole patient.
Carol Vassar, podcast host/producer (02:49):
And why is this an important area to delve into right now, especially here at Nemours? How does it benefit the children we serve?
Dr. Vicky Funanage, Nemours Children’s Health (02:59):
Well, I think our approach to medicine, in general, has been one size fits all. You have a diagnosis, and then you have treatment protocols or whatever. But everyone is different, as we all know, based on our genetic makeup, our environment, our lifestyle. And it’s important for kids for multiple reasons. First, much of adult health is rooted in early childhood.
You can take a look at obesity, diabetes, asthma, and realize that those are not only conditions that may start in childhood, but they also manifest themselves in adulthood. So they become problems in the adult population as they are in kids. And second, children, as Dr. Arn knows, because she’s involved, as she mentioned in directing our human subject protection program, the institutional official, she knows that oftentimes there’s a hesitancy to involve children in research.
Some people don’t feel comfortable. They have to be able to interact with children and adults, and there’s more of a risk inversion, but children lose in the end if they don’t benefit by research advances or by tailored approaches to best treat their disease and have the best outcomes.
Carol Vassar, podcast host/producer (04:27):
So precision medicine, how are we establishing this program here at Nemours? Vicky, I’m going to go to you for that one.
Dr. Vicky Funanage, Nemours Children’s Health (04:34):
Certainly, well, as Dr. Arn and I mentioned, we’re both molecular and clinical geneticists by background, and we also have complementary roles heading research and education. So precision medicine was one of those areas where not only genomics but research and education just sort of melted together to enhance clinical care. So Dr. Arn and I, together with Dr. Lawless, who was our manager at the time and our executive leader, we presented to the Nemours board of directors in I think, 2017, if I’m not mistaken.
And we outlined the need for a precision medicine program at Nemours and we had such a buy-in from our board that they approved enhanced financial support for launching a precision medicine program at Nemours. And Dr. Arn and I started working on a plan for precision medicine, I believe in 2018. It involved establishing the different areas which we’re going to talk about as well as buying some equipment that was needed to launch the program.
Carol Vassar, podcast host/producer (05:45):
So where do we stand today in the establishment of this program? It sounds like it’s got a foothold. Where do we stand today, Pam?
Dr. Pamela Arn, Nemours Children’s Health (05:54):
I’ll start with a couple of the programs that we’ve been involved with, and Vicky can fill in. We all collaborate and try to work together. One of the programs that I think has been very successful in our Delaware Valley market particularly is the genetic testing stewardship program. And part of precision medicine is getting the right diagnosis for the patient.
Many times that involves genetic testing and genetics move so fast that many physicians in the various pediatric specialties and the adult specialties, for that matter, can’t always keep up with what the most advanced testing is. How do you get it? How do you get the insurance company to pay for it, which is oftentimes a barrier? Then how do you explain to the patient or their family what that testing is going to involve, how much it’s going to cost, and if the testing is done, what the results mean and what it means for the family?
Because when you do genetic testing, it may have profound implications for the patient, but it also may have implications for the family and the other family members. So it’s very important that people understand the type of test that their child is having and the implications not just for the child but that it may have implications for the rest of the family.
So our stewardship program is designed for physicians who they have an idea what the patient has most of the time. They know what kind of disease they’re looking for, but they may not know exactly what’s the most efficient way to get to that diagnosis from a molecular testing standpoint. So they can consult our stewardship program, and the genetic counselor will come review the chart, look at what they’re trying to test for, and then look at what’s the most efficient way to get that done.
Is it a single gene? Is it a panel of genes, is it an exome test? What’s the best test for that, and how do we get it done in the most efficient, clinically efficient, and the most cost-efficient for the family and the healthcare system way to do that, and then to get consent from the family and move ahead with the testing. Sometimes they defer the testing if the family wants to think about it. There are a lot of options, but that’s basically how it works.
And we’re in the process of expanding that to Florida to our hospital there. That’s one of the programs that I think has gotten a foothold and had success. The other program is our pharmacogenomics program, and that involves a team of Ph.D., pharmacologists, geneticists like Vicky and me, and people who understand the genetics behind how people respond to various drugs.
There’s some people who metabolize one drug very quickly, and another person may metabolize that drug very slowly. So you can, in the case of many drugs, do a genetic profile that tells you how that patient is going to metabolize that drug and whether they’re at risk for having severe side effects with that drug. In that case, you might not use it, or if they’re a faster or slow metabolizer, you might use a higher or lower dose of that drug. That is very helpful in some cases in helping physicians tailor a drug treatment for a patient.
Dr. Vicky Funanage, Nemours Children’s Health (09:45):
So, first of all, I would add on Pam’s description of the genetic testing stewardship program was superb, and that has really increased the efficiency of care. Most physicians do not understand genetics, so providing this program enables them to order the right test, as Pam said, and also helps them understand the results that they get back because the interpretation is a big piece of it.
The testing is usually done by these big commercial genetic testing firms, and they give you the results back, but they don’t really do an expert job of interpretation and especially being able to take the clinical information and merge it with the genetic information. So just a really stellar program, and we’ve published in this area as well. It’s had such an impact on diagnosis.
They have kidney disorders, and even in the realm of skeletal dysplasia and others, it’s really being permeated throughout the Nemours enterprise but was launched in Delaware because we had the biggest team of genetic counselors and a strong clinical genetics program at Nemours Jones Hospital in Delaware. So that was easier to launch. With pharmacogenomics, Pam described that beautifully. We’re taking genetic variations that occur in populations in individuals and using that information to determine how they respond to drugs that are used in treatment of their condition or their disease.
Another investment that Nemours made, you get the information; what do you do with it, and how do we get it into the hands of providers? Well, Nemours supported the purchase of an analytical system that could build clinical decision support tools in our EMR called ACT X. You’ll hear more about that, but that enables physicians to have clinical decision support tools and receive alerts.
You may not want to give this medication because this patient will have an adverse reaction to it, or that patient may not be helped by that medication, and you either have to change the dose, increase or decrease the dose or decide on a different medication. So the next was the biobank and what we call the molecular analysis program. It started as the biobank, but you have to have huge patient cohorts to look at some of the disease population in areas and understand the etiology of disease and the variation and the best possible treatments or even prevention models.
So it’s important for us to biobank samples, whether it’s blood samples, whether it’s tissue samples from patients or children with rare disorders. And so we have a program that enables us to collect tissue from all across the Nemours enterprise, and they’re what we call our honest broker. They have IRB approval to run the biobank. They collect the samples, they store the samples, and then, later times, if they want to be used in research, IRB approval needs to be sought for that.
So that has just been a great boost to our research programs because, as I said, these samples are not readily available. The next and last domain area that I’ll talk about is we call it disease course predictive modeling. Now there’s a wealth of information in our electronic health record. Dr. Arn has talked about how the genetic testing results go in there, the pharmacogenomics test results, other clinical information is all housed in our electronic health record.
But being able to get that information out and use it in meaningful ways, especially in outcomes research and in data analytics to predict outcomes of disease is challenging. So we have a team that works on that area. There are data scientists and individuals that work with our clinical informatics team to use artificial intelligence to use language processing. There are tools that you can use to take words like clinical notes and extract them into meaningful information that can be pulled out of our EMR and analyzed in meaningful ways.
Carol Vassar, podcast host/producer (14:44):
There’s a lot of integration there, a lot of data there that seems to be synthesized through precision medicine. I have a quick question about patient and physician education. Talk about the importance of that moving forward in precision medicine.
Dr. Pamela Arn, Nemours Children’s Health (15:01):
I think it’s very important. I’m always looking for ways that we can educate people about genetics and about precision medicine. The problem is it’s not realistic to expect a cardiologist to be a molecular biologist and to be a geneticist. So a lot of the teaching we need to do is what we used to call back in time in the old days, just-in-time teaching, which means that it’s kind of like precision medicine. It’s a little more tailored to the physician.
It’s a little more tailored to the specialty, kind of a here’s what you need to know kind of approach. Because I think we’ve proven over and over again that I can stand up and Vicky can stand up and give all the grand rounds and all the lectures that we want to give, but the information, if you’re not using it, kind of goes in one ear and out the other and you don’t remember it when you need it.
And so we have to teach physicians the basics, how to find the information, and then how to reach out to the people who can help them navigate this. Because genetics now and precision medicine, what’s been its own medical specialty since the nineties maybe, so it’s hard even for us as geneticists to keep up because everything changes, the type of tests you can do, change, the type of treatments that are available change.
So we have to partner with care providers in a way that is meaningful to them, not just trying to make everybody a geneticist, not trying to give a lot of generic lectures, but to really think about how best to reach out to these people. And I think the stewardship program, and by doing things like Act X really help with that more than trying to just go give lectures or do more traditional education endeavors because the information changes quickly and how people use it is going to change.
Clinicians are given less and less time with each patient, so it’s a really difficult problem to solve. But I think doing the education as we partner with providers and physicians to take care of the patients is really what’s going to get the job done at the end of the day.
Carol Vassar, podcast host/producer (17:38):
Vicky, would you agree with that?
Dr. Vicky Funanage, Nemours Children’s Health (17:39):
Absolutely would. And Pam mentions partnership, and obviously the partnering with the physician is important. And I have to say Pam and I speak the same language, so that helps. But research and education have also always been strong partners. And one of the other things we’ve done in addition to what Pam has mentioned, and this is more on the research side, we’re trying to approach it from an implementation science perspective.
So, for example, we have a clinical fellow at Nemours who has a research pilot project to look at the effect of this pharmacogenomics program on pain management in sickle cell disease population. And the early results of that, it’s changing their care, changing it. So the physicians are so unbelievably excited when they see it for real. Like Pam said, we can get up there and lecture all day about the importance, but it’s really seeing it and having these small implementation projects that we’re able to fund from either research or our precision medicine program that really are making a difference.
Carol Vassar, podcast host/producer (18:51):
It sounds like we’ve been on the precision medicine path, even though it wasn’t called that for a very long time. Talk about how it ties into well beyond medicine, being well beyond medicine, and going well beyond medicine. Vicky.
Dr. Vicky Funanage, Nemours Children’s Health (19:06):
It’s beautiful that you said that because I think that is why this resonated so much with our board. And also, Pam and I took this out a roadshow all throughout Nemours in 2018, 2019, and there was just such enthusiasm for it because we had already been building the infrastructure to do a lot of this work, but being able to not only more accurately diagnose and treat and prevent childhood disease is important, but I think the other thing we’ve kind of touched on, but we haven’t talked about in detail, it’s really giving patients and their parents the information they need to keep their children healthy.
And that’s a big deal, to be able to use your health information, the information that’s in your health record, and being able to understand how it impacts your overall health, being able to take some of the digital platforms we have, whether it’s your Fitbit or your Apple Watch or other technologies, and be able to better care and manage your child’s disease is really critically important because otherwise you’ve got episodic care where you’re coming in either for a well visit or for a patient visit, but most of the time kids are in their home environment or in their school environment.
So I think that’s been really important, and that is well beyond medicine. That is giving kids things that they don’t typically have.
Dr. Pamela Arn, Nemours Children’s Health (20:46):
I agree. Vicky, I think we have to talk about though, that there’s a real problem with access to testing. One of the problems that genetics has because this is a field that really came into being only recently in the big scheme of medicine, and so the reimbursement system for genetics services, for the counseling, for the diagnosis, for the testing itself has lagged way behind reimbursement in any other specialty of disease.
And so there are problems that if you have one type of insurance, you might be able to access genetic testing fairly easily. If you have the wrong type of insurance, you’re not going to be able to access it because the cash price is going to be too high still and the insurance is not going to pay for it.
So it’s powerful when you can gather all that information, but there’s still barriers to getting that information. The other problem that I see is health literacy is very uneven across our country. You have people who come in and ask for the right genetic test. And you think okay, these people, they barely need you. They’re maybe in the healthcare field, they may be in a science field, they have already researched their problem. They may need some help, they’ll still need some direction and maybe treatment, but they’re at one level.
And then there are other people who haven’t had the advantages that are very confused about not only what their results will mean, but getting the test in the first place and trying to provide an explanation for a very complex testing is really difficult. And we try to make sure that people understand, but there’s a certain amount of health literacy that you need to have in order to be an advocate for your child and, ultimately for the child to be an advocate for themselves. So in the context of the healthiest generation, I think we still have some problems to solve that aren’t just the genetic problems themselves.
Carol Vassar, podcast host/producer (23:18):
It sounds like it’s an old problem written new where the technology is moving forward, the science is moving forward, the education and perhaps policy and legal implications haven’t really caught up to where you are yet. So there’s a lot that’s still TBD in this area, it sounds like.
Dr. Pamela Arn, Nemours Children’s Health (23:36):
Exactly. I mean, things are changing in ways nobody predicted. I was reading about sperm donors who thought they were anonymous back in the late ’70s, early ’80s. Now people are having DNA testing and figuring out they’ve got siblings all over the place, half-siblings all over the place, and these guys aren’t anonymous anymore. Who would’ve thought that? Who would’ve thought you could solve crimes by testing old DNA and entering it into the donated genealogy databases and coming up with, oh, it’s that guy whose relatives all submitted their DNA? Maybe he never did. It’s just amazing.
Carol Vassar, podcast host/producer (24:19):
It’s amazing. But there’s a cautionary tale there as well.
Dr. Pamela Arn, Nemours Children’s Health (24:21):
There’s a cautionary tale there as well. There are a lot of implications that maybe we haven’t thought about yet or that we don’t know yet, but the technology’s going to move forward no matter what we do. That’s just the way things go. But we have to do everything we can to make sure that we give people the access they need, do it ethically with the best information we have at the time.
Carol Vassar, podcast host/producer (24:49):
And it sounds like that’s what’s next for precision medicine. I’m going to throw that question out to Vicky and then Pam, you can correct me if I’m wrong. So what is next for precision medicine here at Nemours, Vicky?
Dr. Vicky Funanage, Nemours Children’s Health (25:00):
Well, first and foremost, we do have to be cognizant of what you’ve just discussed, what Pam’s mentioned, and you have said that we have to always have those guards to make sure that as we use these technologies to improve care, that we don’t have it get into the hands of those that may not use it for good purposes or they don’t maintain your privacy, because that has all changed.
As Pam said, we never could imagine that your genetic information does not keep you anonymous anymore. It’s your genetic signature, and that’s complex. So I think we have to get bigger cohorts of kids involved in precision medicine studies, and that’s something that’s moving forward. You’ll hear later when you hear from the disease mapping cohort group we have a huge database called PEDSnet, and that is a collaborative among seven or eight, nine other healthcare, pediatric healthcare organizations in the US.
And this has limited data sets of all US children captured in these systems and in these electronic health records, and they’ve harmonized all the information. And it is like 10% of all US children. So having that information and marrying it with the information that we get from precision medicine is going to be incredibly powerful using more of the artificial intelligence methodologies that I’ve spoken about.
And we’ll continue to advance our clinical genomics work and understand the environmental and lifestyle impacts. But I think you’ve alluded to this as well, we really have to address health inequities, not by just precision medicine, but Covid has been something else for us. And why I say something else because precision medicine is incredibly important with COVID-19, and there’s so much we don’t know, and even less we know in kids, and we’re providing information on kids with relation to Covid because of the databases we have and the ability to extract information out of our EMR. And having that population of kids in the Nemours healthcare system, nobody has that number of children. Health inequities have been revealed, Covid, poor outcomes, and rural underserved areas, like Pam said, health literacy all these things play into it.
Carol Vassar, podcast host/producer (27:42):
Pam, where are we headed?
Dr. Pamela Arn, Nemours Children’s Health (27:43):
I think the research is incredibly important. I agree with Vicky, and we’ll put up all the guardrails we need to put up to make the research ethical and get information that will impact the care of children. There’s so many unanswered questions like Vicky said. Why do some people get long Covid? Why do some kids do poorly with Covid while other kids barely have a cold? It’s certainly multifactorial, but what role do your genetics play in that?
Those are all questions that we need to answer. I think from the patient standpoint, being a geneticist by training, there’s so many diseases that when I was in fellowship even, we just said, well, this is lethal. There’s nothing we can do. We’ll offer supportive care. And now there’s enzyme replacement therapies, there’s drug therapies, there are all kinds of therapies that come out. So we need to keep ourselves in a position where we can support the people who can diagnose and treat those diseases.
And they’re certainly not all geneticists, but it cuts across all specialties, making sure that we’re able to diagnose those diseases and that we’re able to access the treatments that patients need and put in the infrastructure to make sure that in the case of pharmacogenomics, that we give the right drug at the right dose to the right person. So that’s where we’re going to continue to go with precision medicine.
Carol Vassar, podcast host/producer (29:27):
Thanks for listening to What is Precision Medicine with me, Carol Vassar, and our guests, Dr. Pamela Arn and Dr. Vicky Funanage. What are your thoughts on precision medicine and how it goes well beyond medicine? Where do you see an opportunity in this area? Visit nemourswellbeyond.org to submit a comment or leave us a voicemail. And while you’re there, check out our other episodes and be sure to subscribe to the podcast.
Thanks to Peter Adebi, Allison Craft, Deborah Griffin, and Savannah Pettit for production assistance on this episode. Next week, join me as we discuss how Nemours is bringing capacity-building skills and technical assistance to Oklahoma to help prevent social adversities in early childhood. It’s called Project Hope. Until then, remember, together, we can change children’s health for good well beyond medicine.
MUSIC: Well Beyond Medicine