Genomics in Maine: Dr. Tom Brewster

Today it is my great pleasure to have with me in the studio Dr. Tom Brewster. He is a colleague as a physician, although he's a pediatrician by training as opposed to my family medicine background. But he's pretty interesting because he's doing a lot of work in the field of genomics these days, and I love that you and I have had parallel paths for many years having worked within the same main pond, let's just say, but you're continuing to do really interesting things on the forefront of medicine. So welcome. Thank you, Lisa. It's nice to be here. It's my pleasure. And I know that you've had connections with my father as a family doctor many years at MaineHealth, but also I believe you've intersected with my sister who's similarly a pediatrician through MaineHealth, and you practiced in Maine Clinical Pediatrics for many years. Actually from 1978 to 2011. I retired from clinical practice, but I've still been active in policy and newborn screening. I guess I haven't stopped. No, you haven't stopped. You've just changed the way you practice medicine. Tell me about your interest in genomics, and I should say for some people who are listening who'd like to know the difference. What's the difference between genetics and genomics? We have chromosomes that are made up of DNA, and I'll try to explain very simply, but the genes are basically the recipe for putting the cell and the human organism together. And so the gene consists maybe there's 10,000 out of the DNA, which is 3 million base pairs, and the genome is actually that whole DNA of 3 billion base pairs, and the genes are only 10,000. And so the whole DNA sequences have to do with regulation and how you use the individual genes into making proteins and the whole body organisms and tissues. I don't know if that's simple enough, but so genes are 10,000 out of DNA and the DNA is 3 billion individual letters, a sense that tell the body how to make proteins. I think some people may have familiarity with the Human Genome Project. I think it's still in some form still exists, but there was one actual mapping of the human genome that ended several years back. But if you could draw a relationship between the work you are doing and the work of the Human Genome Project, is there a relationship there? Definitely. It was over 20 years ago that the whole genome, human genome was sequenced over several billion to do that, and now it can be sequenced within a day for a thousand dollars. So that's why it is now possible to, in terms of cost benefit, to actually sequence your cells or mine within a day and identify both health and disease genes. So it is really that the technology has become available and starting to understand how these genes and regulatory DNA interact. So the cost has come down. We're learning a lot about disease genes and actually identify them in a newborn. You were raised in a small town in Nebraska and you got your education from the University of Nebraska, Lincoln and also the University of Nebraska, Medical Center. Did any of this seem possible when you were going through your undergraduate or your graduate medical training? No, it is an amazing journey. And when I was in medical school, the only thing we could do is basically look at the chromosomes, which were 46 or 23 pair in the human, and you could identify the number and you could recognize the male female chromosome, but there was very hard to understand the others. So that's where I was in medical school. Then when I was a fellow in Boston, and that was in 1975, by that time you could individually identify each chromosome and also different errors in the chromosome. And that was in the seventies. And the technology today is just remarkable. And I even five to 10 years ago, I would not have expected to be sitting here with you and telling you what we're able to do. So it went from chromosomes to actually going into the chromosomes, looking at the DNA and individual genes and being able to use that for health and preventing disease. This is one of the things that I find really fascinating because my background, in addition to being board certified in family medicine, I also have board certification in preventive medicine. But when we think of preventive medicine and they talk about primary, secondary and tertiary prevention, we aren't thinking far back enough. And you are talking about really getting further back. When you talk about preventing disease, you're really talking about the source. You're not talking about once you have whatever it is, then how do you modify your lifestyle? You're getting further back than that. Yes. And that's part of the reason going into pediatrics, but also even back as an undergraduate, I was interested in genetics, but I didn't expect to be where we are with the ability to prevent disease. But obviously during pregnancy, one can prevent certain problems by not drinking alcohol, having toxins in this. But what we're talking about is actually having inherited disease genes that you wouldn't recognize in a newborn. Now we can do that, and there are over 500 conditions that you could identify in an infant that puts them at risk for illness within the first months to several years. And these are treatable conditions. There are other conditions that you've sequenced the whole genome. You can identify parents who have conditions, certain cancers, certain heart disease. So this infant, if he inherited that from a parent, sometimes a parent doesn't know they have it. And so now you're talking about conditions that could be prevented in a parent, an extended family from identifying it in a newborn. But yes, primary prevention, both in terms of nutrition, medications, self prevention in that sense, and obviously social and economic and all these factors are also public health and preventive health, which you're very heavily involved with. We were talking before we came on about the what newborns receive in screenings and how back in 1978, you said there were three things that we were screening for and one of them is And now we're up to 300. In Maine's newborn screening program, there is now over 30 conditions. PKU was the first and now cystic fibrosis, sickle cell disease, neurological conditions that can be treated. And as an example of this, five years ago, a very active mother had a daughter who over the first few months of life had developmental delays, feeding problems, and it took a while to figure out what that condition was, which was genetic. It was inherited. And so the mother knew about newborn screening and actively involved with the community people to encourage the legislature to pass a bill to screen for this condition. And unfortunately, it happened to be a condition that we had no treatment and the screening program would've actually made it more difficult to care for infants and families. But this year I wrote her and told her that she had won, that we now have a gene that can be given to that newborn and actually have it functioning that this infant did not have. So she just now five years later accomplished what she tried to do that long ago. So that's how it keeps evolving and more and more conditions. And when we talk about newborn DNA sequencing and what I talked about 500 conditions, these are present and now the challenge is going to be how do we integrate that into our newborn screening problem, but also into our healthcare delivery system? Because you cannot address that many people and children without having a healthcare system. I don't know if you can let me briefly say that our healthcare system is the most expensive in the world, and it has the worst outcomes, health outcomes with all that. And so there are many people who don't have access or they can't afford the care. So if you have the ability to actually identify a newborn and treat that child and family and test extended family, whether it's certain breast cancer, heart disease, our system isn't set up for that. And the United Kingdom and Greece, these are other countries that when I go to this meeting next week, but the United Kingdom has a universal healthcare system. So they are starting to a pilot to screen 100,000 newborns, but they have a universal healthcare system. So these infants and families have a pathway to healthcare that we just don't have. So this is going to be the challenge that yes, we can do this, but we don't have a health system that allow that to work. So now the challenge is to educate members who go to Congress because it's going to have to be at the state level because the federal level just doesn't work. So you get your own members, educate them, go to Congress because it has to occur there with both public Medicaid, Medicare and private payers. But they all have to come together and say, okay, this is what needs to be done, but we have to do it together. It's universal, but it's not single payer. It is an interesting challenge because I know even when we talk about what you and I for many years have dealt with, which is now being called social determinants of health, I mean as a pediatrician, as a family doctor, from the very beginning we were aware that access to healthy food, access to potable drinking water, access to transportation education, all of these things had a direct impact on health. And within the last six years or so, covid timeframe, we've now had more of a focus on what are being called social determinants of health. We still don't really have a way of actually handling the social determinants of health. Somebody may have a low literacy level. We try to meet them where they're coming from. But as physicians within a system, we don't necessarily have the ability to access, for example, education to influence education to the degree that we might need to. As you talk about going even further back and screening newborns and trying to help their families move through a medical system that in some cases doesn't have actual treatments for these issues and some cases has treatments, but they're very, very expensive and you're starting so far back that it's going to create more of a financial challenge. It kind of begs the question, how do we decide where to distribute our resources and whose responsibility is that? So I can see why this is something that you're passionate about and trying to understand how we could do that better. And actually there are dollars to provide universal healthcare, and that really requires the politics and coming together. And you have to balance taxation so that the most wealthy in the country, you shift a small amount really to a healthcare system that will really talk about public private insurance for everyone. An example now, well first of all, I would talk about covid and genomics because the technology, what was the covid vaccines, those vaccines you took and were able to make a brief message we'll say, which is RNA, which your friend, I think it was Dr. Wright, was it from the Mayo Clinic? That's another story, but it's very fascinating. But anyhow, what they inserted is a sequence of RNA. And what it did was the RNA was coding for protein, which was only the protein of the spike of the virus. And so this protein came out in the bloodstream. Your body defense recognized that because one of the things that recognizes getting a body defense immune response, so it was done in six months where it normally takes four or five years to make a vaccine. And if we go back to what you're saying is in terms of healthcare and public health, the challenge after that was people weren't taking the vaccine. So this gets into education and the politics of what happened over 2020, and then it kind of impacted vaccines such as polio and mumps. And so there was a challenge of actually having children vaccinated for these other common diseases. And another example that we're working on right now is that in the neonatal intensive care unit, and in 2023, there were about 900 newborns were in the intensive care and probably 30% of those are conditions that are genetic. But how do you identify those sick kids? So with being able to sequence the whole genome, you could take these undiagnosed newborns, sequence their genome and identified maybe 30% of conditions that you could actually treat, but you didn't know that's what it was. So we're with neonatology and legislators to put together a bill that would have main care pay for the sequencing, which is about $7,000 per infant. But if you do a cost benefit, you're talking about what is the cost of the care of that infant who may die. And one recently did that could have been diagnosed and treated in terms of that cost down the road that it is really cost efficient, but it is also saving a life and the extended loss for the family. So this is in the works now. And so this is another example of having not healthy newborns but sick infants and actually identify now. And it doesn't require the healthcare system that doing sequencing of normal healthy newborns. As a family doctor. One of my opportunities has been to care for children who have become adults and who have ended up needing long-term attention because of really severe disabilities, not all of which are related to genetic conditions, but many of them probably are. And I've seen how wonderful the family is often to come around these now adult children to care for them. And then I've seen their concerns about as aging parents, now where does my child go? And so as you're talking, one of the things I think about is this idea of the cost over the person's entire life. So we're talking about the cost of sick babies, but this becomes a cost that continues to exist and sometimes for decades and life for some and the impact not just on the life of that child, that becomes eventually an adult, but the impact on that child's family and the impact on sometimes the community. And I don't know exactly what the answer is, but it seems to me that having some more information sooner in the course of a baby's life, it statistically would have to make enough of a difference so that you are addressing and preventing some of those challenges that occur later on. There are about 10,000 rare diseases that maybe 30% have identified as what is the cause. And we talk about diagnostic odyssey. In other words, how many years and how many tests before you identify the cause. And at the same time, there's always going to be those that we're not going to be able to treat in the sense of making them asymptomatic. And now you have that challenge of the care of somebody who is unable to care for themselves or has to have a lot of support. And that gets back again to how do we balance our healthcare and public health? That's a work in progress. You are dealing with in your own personal, and I would say professional life in the sense of working with families like this. The other thing that I think about is that if we don't find a way to create some level of equity for people that have financial means versus people that don't have financial means, then what you're continuing to do is increase that divide, increase the disparity, because we are actually in a place now where people, if you have financial wherewithal, you can in many cases seek additional testing and you can seek additional care. But if we don't have that access to people who don't have the ability to pay for their own testing, then that continues to create more problems that kind of get baked into an already challenging system. And if you would look at a type of cancer, which is called Lynch syndrome, which is about one in 280 people actually have a gene for Lynch syndrome. This impacts early onset colon cancer. And if you identify a young person, the recommendation is to start colonoscopy at age 20. So there you're preventing, again down the road treatment for cancer. And it's inherited in the sense of 50% risk that you inherited from a parent. So again, if you start with a newborn, you have a parent who has cancer, presymptomatic, aunts, uncles, grandparents, if they're living. So the cost savings there is very positive, but at the same time as you're saying access equity, this is part of our fragmented system of healthcare. So that's not going to be solved until we do have some type of universal care that everybody has access to care with good outcomes that we do not have that today. And if you have money, you get the care. If you come in the emergency room, you get care. If you come in with a heart attack and get a stent, you get care. What happens if you don't have health insurance or inadequate insurance, you leave the hospital, here's three meds and you go home, but you have no primary care. You have, whether it's nutrition, other social challenges, they either come back to ER or some will pass away because they don't have, if they know what they have, but they can't get the care they need. Yes. It seems like what we're perpetuating is this idea that healthcare is continually about putting out fires rather than preventing the fires in the first place. So we are very good at emergency care and whether we're good at it or not, we spend a lot of money on end of life care, but how do we get to the place where we create healthier lives just to start with and at least give people the opportunity and not everybody will, but the opportunity to take advantage of potentially a life that has fewer fires in it. I would credit MaineHealth as an overall system because they have moved in that direction maybe five, 10 years ago in the sense of trying to reach out for these social determinants. Healthcare and insurance really was created originally to treat disease. Hospitals are paid to treat disease, they're not paid to prevent it. And MaineHealth has worked toward, and you could probably describe that better than I can about the social determinants and trying to reach out to the communities and help them in terms of nutrition, in terms of education, in terms of transportation, access to primary care. They've been doing that, but their dollars come not from that. It comes from disease and specialists. And part of our problem is that specialists are probably the best in the world, but unfortunately given our system, they're paid too much for what they do and shifting some of those dollars to primary and preventative care. And that's going to take time. But it goes back to how we originally talked about in terms of starting with a newborn, knowing they have these genetic conditions, which if they don't have the social support or it's a losing battle, so we have to keep working, Lisa, and that's what you're doing. I'd say that's what we are doing. It sounds like one of the ways that you are working towards this is you're continuing to have conversations with people not only within Maine but also nationally and really internationally and trying to figure out, okay, how are things being done so that we can bring genomics into the healthcare systems really globally? And those conversations, they take time, but it seems like they're worth having. Yes, this consortium and it is worldwide, and leaders are coming to New York City next, actually the ninth for a two day meeting and collaborating, sharing data. This is unheard of in a sense. And how do make this worth work in terms of delivery of this care? So it involves, I'm on the policy committee, and so our challenge is part of putting all this together so that when we now know how to screen how to treat, but how do you actually have a system in place? That system is really the public health system. It isn't Maine, it isn't Eastern Maine. It is the public health and has to put this together so that these newborns are screened and diagnosed. You have to reach out to primary care. You have to reach out to the specialist with this infant has this, how do you coordinate that? So this is what this consortium is as well. How do we learn from Greece? How do we learn from the UK? How do we learn even from Asia? People are coming together, everybody has their own system and they have their different culture. How do we learn to put this together that works not only in Maine works in Montana, and that's a challenge. So 10 years from now, I think it will be in place. Just have to be working at it now. It is often the logistics of this, as you and I were kind of talking about ahead of time, it's trying to bring the theoretical into the practical. What I like about the fact that you're working on this is that you're both a specialist in this area, but you also have the benefit of being a pediatrician and a clinician. And I think there's a great value in individuals who have a broader view of things, but then also a more specific view of things in showing up and being part of these conversations. Because I think the translational aspect of this is so critical to where we are right now. We need to be bringing the people who are doing the work, who are doing the primary care together with the people who are understanding what the future looks like and making it actually possible to do the work. So I think it's wonderful that you've been able to bring all these different skills in your background together to be working on this. I will say that being a pediatrician gave me that experience to be able to understand the challenge of being able to provide care. And the challenge as a system as such for family practice and for pediatricians, it's seeing patients every 15 minutes and the ones who need the time, it doesn't work. And again, for MaineHealth, they're trying to move toward value base, which means you can have, well child visits. Yeah, 15, 20 minutes works because well-child and it's preventative information. What about the child who has complex conditions including autism and other intellectual disabilities? You can't do that in 15 minutes. So you actually set up a system where you can spend 25 minutes, 30 minutes with that child and family and have a system which is more efficient for a well child. So this is kind of one way to approach it, but being a pediatrician, it was always so frustrating because I couldn't, you had to do it after hours, whatever it was, and actually having resources for these families, which gets back to what you were saying earlier. So that experience, because you have to know the family, the child, and be able to put together a system of care which they need, but you need the time. It's interesting that in all the things that we've explored that somehow we haven't quite gotten to the place where we can say, I'm going to use this information on a healthy child and family and this other information on a child and family that's impacted by significant disease and predict how much time would be needed so that we could actually build somehow a system where if you need a quick well child check, great, that's going to be 15 minutes, but we predict that this other child and family is going to need 45 minutes and we're going to intelligently build a system versus saying, we're not going to say one size fits all or one size fits most. We're going to use what we have right now computationally to be able to say, okay, we can make this happen for you. I kind of hope that that's the direction we go in is that we use some of our technology to figure out logistics. I know that they do it in other industries, so if we could do it in medicine, that would be really great. That's right. And actually artificial intelligence, as much as it can frighten people, the system can actually be very helpful. And not only allowing diagnosis, but efficiency in care and also what you're involved with virtual care, which is a very positive thing. And even 10 years ago it was somewhat primitive in terms of being able to communicate distance. Now the technology is such that it's much more effective and efficient to provide that care, and they don't have to come in to the office or specialty offices frequent. So that is a direction with technology as well. And I think that this is one of the reasons why I remain optimistic. It's hard to be optimistic in medicine sometimes because we see a lot of hard things just dealing with suffering. That's hard. And also we've seen how the system has evolved in a way that's been, I wouldn't say entirely positive for us as a profession. It's a difficult system for patients and the profession. But I like that what you're talking about, where you're bringing forward these ideas that look at where we've come, look at what we've been able to accomplish between screening for three diseases in 1978 with a heel stick for a newborn to 30 diseases now. And that's not that long in the grand scheme of things. So if we can somehow just continue to show up and have conversations with colleagues and really try to work forward and understand that we've gained a lot of benefit from having these technological advances, then maybe we can just stay grounded in this idea that there are possibilities. Let's not all give up yet. We've got to keep moving forward because there has been hope and there will remain hope as we continue to have these conversations. And I give you credit for what you're doing. You're educating, you're reaching out to colleagues and helping families, so you have to keep at it. I will say thank you, and I'll say you have to keep at it too. And you've had a few more birthdays than I have, so hopefully you'll have many more to come. We need you doing this work. We'll regroup periodically and see how we're doing. Okay. We'll keep checking in. Thank you. I'm really appreciative that you've taken the time to talk with me today. Thank you, Lisa. We explore and celebrate creativity in the human spirit here on Radio Maine. And today we've been exploring and celebrating the creativity and I guess the human spirit, both associated with genomics and caring for people with my friend and colleague, Dr. Tom Brewster. For those of you who are paying attention to our conversation and thinking, I'd like more information on this, I would encourage you to look up the work that's being done with newborn screening and also genomics and poke around and see what's happening in your area. But if things aren't happening in your area and you have a special interest, there is work that is being done globally. So I guess Dr. Brewster has now suggested that he and I need to keep doing this for a while. So hopefully we'll check back in and we'll have another conversation in the future. We will.