Patients Can Be the Most Effective Teachers - Dr. Mark Korson, Director of Education and Physician Support Services at VMP Genetics

Shiv Gaglani: Hi, I'm Shiv Gaglani. As I've said many times when interviewing rare disease patients or their loved ones, they can easily be mistaken for medical experts because they've had to do a deep dive into whatever the condition is, especially because there is often a lack of knowledge in provider community about it. That's why I'm delighted to welcome Dr. Mark Korson to Raise the Line today because he is a strong advocate for patients participating actively in teaching the medical provider community. 

Dr. Korson is a metabolic geneticist who spent over two decades leading work in that specialty at Boston Children's Hospital and Tufts Medical Center. In 2017, he joined VMP Genetics as Director of Education and Physician Support Services, providing remote consultative assistance to clinicians at ten major academic medical centers caring for patients with proven or suspected metabolic disease. His work at VMP also includes directing the patient-teacher registry and patient-teacher video catalog. 

In the rare disease space, he's on the board of the New England Regional Genetics Network and is a founding board member of Rare New England. I had the pleasure of connecting with Dr. Korson recently to learn about his work in medical education and the rare disease space and before we get started, I'd like to give a shout-out to Dr. Tom and Maria Rebbecchi who were the ones who first introduced me to Mark. So Mark, thanks for taking the time to be with us today.

Dr. Mark Korson: Oh, glad to be here.

Shiv Gaglani: Well, as we often like to start for our audience of current and future healthcare professionals, can you give them a bit of your background? What got you interested in a career in medicine, and then specifically in genetics and metabolic diseases?

Dr. Mark Korson: Well, I think actually, my parents wanted me to go into law. But when I did an internship in law practice, I really didn't like it. I actually thought, I don't want to take this much responsibility in court, and have -- because of the way I speak or don't speak well -- someone's future is going to be impacted. So I went into medicine where you're responsible for somebody's life, but the difference is in law, you're in an adversarial relationship with someone else. But in medicine, all the caregivers are on the same team and the adversary is disease. I'm okay with that. 

I also sort of liked the detective work in medicine, I liked the interaction with patients, the continuity with families, the personal. It's an incredible privilege to be part of the drama of people's lives. That is very personal. It's so close, it's so human. That has been the big prize for me and it's taught me amazing lessons. It's helped me prioritize things in my own life, what's important, what's not; it's taught me don't be judgmental, everybody has pain in their lives and if someone looks like they have an easy life, well you just don't know them well enough, or their lives.  

So, medicine offered so much of that and of course, I've worked at camp for years, so pediatrics was the best portal to get into medicine. But it was in my second year in pediatrics in Toronto where there was a little girl, she was about two, and she developed a metabolic acidosis. The acid level in her blood rose, and the first thing you think of was this could be an infection. So I was writing the orders for blood culture, urine culture, and writing antibiotics. But then I thought, I don't know, I don't have an idea of where to go if this isn't an infection. So I left Toronto for a month and went to Children's Hospital in Boston and did an elective in metabolism and seeing the practice there -- it was a very multidisciplinary clinic -- I fell in love with it. Two years later, I actually went back to do formal training in that area. So, I'm a pediatrician, with a focus in metabolic genetics.

Shiv Gaglani: Well, I think you're a great advocate for people going into the career of medicine, and specifically, I think, metabolic disease and pediatrics. Actually, before we get into the work you've done in teaching in rare disease, I did want to, as an aside, let you talk a bit about how passionate you are about getting people into the field of metabolic and genetic disease. Do you mind telling our audience a bit about that? Because I know several of them will probably be very interested in in following you and VMP Genetics as a result.

Dr. Mark Korson: Oh, well, I mean, genetics is sort of the way of the future. It's impacting every single aspect of medicine. Biochemical or metabolic genetics is actually one part of genetics which is dealing with the biochemistry where there's some sort of chemical imbalance where something is present in too great a concentration, something is deficient, and either one of those scenarios can cause symptoms. So once you know that, there's an automatic approach, there's an automatic way of thinking about how to treat that. You either bring down what's accumulated or supplement, and that's the beauty of biochemical genetics, because there are innumerable ways of treating the patient. 

These are lifelong diseases, so you get to follow patients over time. It's brought me lots of opportunities to interact with a lot of people, not just in the hospital, but also colleagues from around the country. It's a rather small community, so you get to know a lot of people elsewhere. I've spoken at state legislatures advocating for insurance mandates to cover some of the products that we prescribe. I've directed a PKU camp for a number of summers, and you see people, patients, in a very different context. Right now I co-direct the North American Metabolic Academy, which for almost fourteen years now has run a bootcamp for genetic trainees and it's a wonderful opportunity to get all these genetic trainees together for a week. We learn a lot, but we have all kinds of fun. We make up songs around the disorders, everyone is required to write a haiku, there's a talent show, there's a metabolic Jeopardy at the end of the week...it's sort of like camp and, and people love it and want to come back. So, if you're interested in biochemical genetics, you have a seat, you have a place at the academy.

Shiv Gaglani: That's awesome. That's really great to hear and I definitely will link out in the show notes so they can they learn more. I will say it's funny that you mentioned the song and the haiku because, as you know, Osmosis and Elsevier launched the Year of the Zebra and we’re doing a lot around rare disease education. One of the things I've been talking to our producer Michael about is ChatGPT. I don't know if you're familiar with it. It’s from this company called OpenAI that is probably one of the leaders in artificial intelligence. I actually had it write out a song and a haiku and a different poem and a children's book about rare diseases. 

The link is chat.openai.com and you can just ask it to do something like that, and it'll write something and give you some creative ideas around it.

Dr. Mark Korson: Okay, well. So there I was. I was invited to give the board review lectures on metabolism to the National Society of Genetic Counselors -- this was about fifteen years ago -- and what I realized when I got there is many of these genetic counseling students were in centers where metabolism wasn't very strong. So, their introduction to metabolic disease -- this whole area of genetics -- was at their board review course. The tension was exceedingly high and what I learned in that situation is find ways to break the tension in the room. 

So right in the middle of lectures, I would break into a song or tell a story or read a poem. I'll sing you a song right now that I wrote back during my pediatric residency. It's not specific for genetics or rare disease, but nevertheless, it tells a story, and it goes like this.

[Mark sings] 

C-B-C-B-D-R-L GI-GU-GC, 

MSU for CNS and PT PTT, 

PVCs on EKG S1 S2 S3, 

An IV with some KCL right down here if you please. 

CVP and JVP an IVP done stat,

When you want a chest X-ray write down PA and LAT, 

But if you should get sick one day, you'd better hope and pray 

Your MD knows her ABCs are you'll be DOA.

Shiv Gaglani: (laughs)Amazing. We've done over 350 episodes of Raise the Line and we've never had a guest sing a song, let alone one that that is a great way to learn medicine. So that's awesome. Thank you for sharing that, Mark.

Dr. Mark Korson: You're very welcome.

Shiv Gaglani: And since you shared that with me -- even though people are listening to this and aren’t seeing the video -- but I will share this with you because I think you'll find it really fascinating. It's just for our audience to follow along, because we're gonna be using ChatGPT at Osmosis increasingly and for the “zebra” initiatives we're doing. 

So Mark, if you can see my screen...I'll narrate it for our audience. I'm at chat.openai.com and I can just say, you know, write a poem about metabolic diseases. (Shiv types) and including -- if you want to give me like a favorite one that you want to include -- maybe PKU or something like that?

Dr. Mark Korson: Um, sure. PKU. Why don't we go with PKU.

Shiv Gaglani: Let's see what it says. And I'm just typing PKU because it's able to differentiate generally. Full disclosure: I'm doing this live with you, so I have no idea what's going to come out, but we'll see. So, I said write a poem about metabolic diseases including PKU. It says:

"Metabolic diseases, oh, how they do Vex

PKU is one, so complex 

A genetic disorder inherited at birth 

It affects the body's metabolism from the day of one's birth

Phenylalanine is a problem that can't be processed right 

It builds up in the body causing a fright

In babies PKU can cause severe brain damage

But with proper treatments, such damage can be managed 

Diet is key, low in protein is the rule

Special formula and foods must be the fuel 

For PKU patients, every meal must be planned 

To ensure their body's function as they should as best as they can

Metabolic disease is a burden to bear

But with proper care, a healthy life can be had without despair 

PKU may be tough, but it can be managed with grace

Allowing those affected to live a normal life with a smile on their face.

Dr. Mark Korson: Geez! So this comes from AI?

Shiv Gaglani: This was just generated by AI right now. 

Dr. Mark Korson: Well, please make sure this is forbidden from any genetic trainees, because I want people to generate their own stuff. I don't want people getting it from the internet. But that's amazing. That's amazing. And it's accurate. That's great.

Shiv Gaglani: Yeah. Another example I'm seeing: USMLE has a question about NGly1 deficiency, right? We had a feature on here, and we can just see what it does. So it'll write a question and I think this is where this will change the game for content generation and I think physicians, clinicians will hopefully be able to better use tools like this to take care of their patients, to make the diagnosis faster, etc. So anyways, it just wrote out a question and we can ask it to write out the ask explanation and things like that, too. So, just thanks for humoring me as we go through this.

Dr. Mark Korson: Yeah, that's quite remarkable.

Shiv Gaglani: Cool. Awesome. Let me go back to your story. You're very passionate about including the patient voice in your teaching. Can you give us an overview of how you started doing that and what are some of your activities right now as far as educating medical students, fellows, current nurses and others about genetic diseases, and specifically rare diseases?

Dr. Mark Korson: So, when I was at camp, I used to teach swimming. I love to teach swimming. I find teaching is magical. It's the transfer of knowledge and excitement and you see this...you really do see a light above somebody's head turn on, and they sort of get it and they have the smile on their face. So, I sort of run with that and I'm not afraid to experiment. Back in 2007, when I was at Tufts, recognizing that there was a workforce shortage in metabolism -- there are lots of centers that don't have an onsite metabolic geneticist -- I started going out to six regional academic medical centers in the northeast every month for a day, and I would discuss patients. I would bring patients to present their story. I would lead rounds about a general topic. What I realized in those four years is it was a focus group to try any number of different innovative things. Some things worked beautifully and some things bombed, but it was an opportunity to have a lot of fun and so that has resulted in many different things that I'm doing. 

One is the North American Metabolic Academy. Again, it's intense and it would be intolerable if there wasn't a humorous side, or if we didn't create innovative learning formats. We have the faculty debate in front of the students, and they kind of go back and forth and the students may change their mind, you know, in terms of the topic, and that sort of pushes faculty to try hard and try to influence the audience. Other things that we're doing...we have a Rare Disease Day speaker series with Rare New England. We’re entering Rare Disease Day Season. So between January and March, we bring patients with rare diseases or parents to different medical venues around the region. We went out to eleven different centers -- genetic counseling programs, medical centers, medical schools -- and brought these patients to tell their story and the audience is floored. They haven't heard this before. It gives them a new way of thinking about it. And then and families and patients feel empowered. 

If you ask patients if they could change medicine, what they would say is, "I wish more doctors knew about what I had. Why do I have to know more than they do all the time.” So, it's an opportunity for them to teach and so it empowers them and that makes me feel good. We're doing right now a number of online courses for professionals who work in this area of medicine, metabolism. Doctors are trained in this area, but nurses are not, genetic counselors are not, dietitians are not. I mean, they're trained in their discipline, but they have no idea about metabolism. So I'm sort of helping to do some of the formal training, give them some of that background, because they're already interested in the area because they're working in it, and I'm sort of giving them a better foundation of knowledge. 

We're running a couple of things through VMP Genetics because I believe that patients teach about disease a whole lot better than I do. I mean, I can talk about facts and I can even talk about cases. But patients tell stories and storytelling is so incredibly powerful as a teaching tool. Long after my lecture is over -- if I have co-presented with a patient -- a month later, they won’t remember who I am, but they'll remember the patient and they'll remember the story that the patient told. And so that helps me a whole lot, because if the patient can get into their brain because of some human-interest angle, then hopefully some of the stuff that I teach about will get sucked in with it.

So, since 2007, I've been teaching at Tufts Medical School and Boston University Medical School, not in genetics, but in biochemistry, because biochemistry is kind of dry. But if you bring a patient in to talk about what happens if one of those chemical pathways is defective, suddenly you're putting the human back in biochemistry. Metabolism is the direct clinical application of biochemistry. You show me a chemical pathway and I'll introduce you to someone who lives with a defect in that pathway. These are the highest-rated classes in those biochemistry courses.

So, now we're building a national patient teacher registry of patients and family members who will talk to medical audiences. That's on our VMP Genetics website. Anybody who's interested can go there and you can sign up and we'd love to have you. Right now, we have almost about ninety speakers representing about thirty different disorders. When we've looked for those speakers, we came across all kinds of patient videos online, and these are patients or caregivers talking three minutes, five minutes, some ten minutes about living with their condition, but nobody knows they're there. What we're doing is we're developing a catalogue of the video links. We find the videos and we're writing summaries of them and keeping them all in one place. If anyone wants to find a video that's already out there on the internet, they can come to us right now we have about forty-five different videos listed.

Shiv Gaglani: I love that. It’s very true to our origin story at Osmosis, where we realize that the best way to learn well is to teach but then the second best way to learn is through anchoring that content with real-life examples. So, putting patient videos right next to the USMLE questions right next to the videos about explanations are really important. I've already sent your link to a teammate named Lewis who's doing a fantastic job sending out a "Zebra of the Week” as part of our Year of the Zebra. It's not a metabolic disorder, but esophageal atresia, and we featured the video of a three-year-old named Grayson Workman whose video is up there front and center because it humanizes the condition as you're saying, and it makes it more memorable. For some people like yourself, when you were in residency, you meet a patient directly or through a video that changes the course of your life and makes you decide to focus in on that condition or that field or, you know, whatever it may be.

Dr. Mark Korson: Absolutely. It was that two-year-old in second-year pediatric residency who made me think about metabolic acidosis and she changed the direction of my career. I had planned to go into neonatology, but then she sent me with this question. I went to Boston, I loved the clinic, and thirty-five years later, I'm doing metabolic disease. It's amazing. 

Shiv Gaglani: So, given how much work you do in rare diseases, and even going into metabolic disease and biochemical education, what are some of the main opportunities and challenges you see for the space? We know that this is the fortieth anniversary of the Orphan Drug Act, there are more diseases being discovered every year that affect 300 million plus patients worldwide. What do you see as the opportunities and the challenges as we go into the next decade of the orphan drug act, as an example?

Dr. Mark Korson: As I said before, there are all kinds of treatment opportunities for biochemical disorders. And because of the Orphan Drug Act -- which enables and supports pharmaceutical interest in developing treatments -- it becomes lucrative, and so many major pharmaceutical companies are interested in developing products for the rare disease community. That is absolutely terrific and the treatments are getting better and better over time.

We're looking at messenger RNA (mRNA) treatments, we're looking at microbiome-based treatments, we're looking at gene therapy treatments. There is incredible promise. The challenge to us is our workforce shortage because there are not enough people going into this right now. That’s not only reducing access for patients -- and if you don't have a diagnosis, you can access treatment -- but it's having a negative effect on the clinicians who are actually treating because the workloads are becoming overwhelming. We're looking for ways to attract medical students and young professionals into this area of medicine, perhaps something like a medical school loan repayment program. Nothing attracts better than that, and so if people are willing to learn and work in the field for a set number of years, then we'll help them out.

Shiv Gaglani: Yeah, no, I love that concept. Working in this field is extremely meaningful. For those patients and their family members who have those conditions, they're so grateful and so appreciative and so engaged that it's very meaningful to go and help them, right? Obviously, chronic diseases such as diabetes and hypertension need help, too. But those are so common that oftentimes people aren't as engaged when they have those conditions as when they have a metabolic acidosis. 

Secondly, if you happen to discover something through a clinical trial or through bench research for that genetic or metabolic condition, that potential discovery could not only impact that community that has that condition, but more people beyond that. The classic example is familial hypercholesterolemia. Research on that led to the development of statins, which obviously saved hundreds of millions of lives in more common cardiovascular conditions.

Dr. Mark Korson: Agreed. I guess the other challenge is how do we help all the millions or billions beyond the ivory towers who live in countries where they have the same diseases, but there just aren't the resources. And are there ways of simplifying and reducing the costs so we make these amazing therapies available to them as well?

Shiv Gaglani: Absolutely. Like a one-in-a-million disease. We've had several people on the podcast whose kids are in that category. In the U.S. it’s only 330 people, but globally it would be over 8,000 people. And so if we're able to reach them -- both through content translation and localization so they get their diagnostic odysseys reduced -- but then also get that 330 patient group up to a couple of thousand, then the power of those clinical trials becomes much stronger for the development of these new drugs. So, very, very important. 

Obviously, you're a great teacher. We’re a teaching company. If you wanted Osmosis to develop a video or a course on something to teach any group of people, what would it be and why?

Dr. Mark Korson: Well, I would love for you guys to develop a promotional video about the field of metabolic genetics to sell to young medical students. Make it look exciting, make it look sexy. It is exciting! I would say most medical students, and certainly, most postgraduate trainees have no idea what a metabolic geneticist is, so they don't even know that this is an opportunity. There are students there who liked biochemistry, who never thought there was any clinical relevance. So if you could do that, I will be forever grateful.

Shiv Gaglani: We will take that under advisement. The podcast starts that and obviously, some of the things we're doing around the Year of the Zebra will hopefully get people excited about these fields, and these specific fields for sure. 

You began this interview describing why you chose medicine over law. I'm curious, what additional things would you say to a first-year medical student or a pre-nursing student about pursuing their careers in healthcare given how much healthcare has changed in the last few years?

Dr. Mark Korson 

Well, that's a good question. What I would say is, what you do in school has nothing to do with what happens after school. You just have to get through school and learn what you can, but most of your learning is going to occur on the outside. How you do in the classroom does not reflect on how you'll do with patients. So, don't be dismayed with the work, with the challenges within the school environment. Just push through it, because there's another world on the other side, so just be patient for that. 

Two, medicine is becoming increasingly complex and harsh and unfriendly, and medicine will consume you if you don't protect yourself. Actually, when I was a pediatric resident in Canada, there was a survey across the country to residents asking, "What are the major factors that determine how good your teaching program was?" Number one was how good your life was outside residency. It wasn't the lectures, it wasn't the quality of the conferences, it wasn't how good the faculty was. It was something that was very practical and personal. You have to protect your personal life, and protect it greedily because if you don't do that, at some point, you're going to regret it and it's going to impact how you like your career. Start that as early as you can.

Shiv Gaglani: Fantastic advice. Really great advice. This is now an increasingly personal question I ask, because I will be going back to Hopkins later this year to finish med school and so I'm personally intrigued by the answers that you and others have provided to that question.

Dr. Mark Korson: Good luck.

Shiv Gaglani: Thank you. Okay, I know we're at time. Is there anything else that you wanted our audience to know about you, VMP Genetics, metabolic disorders or anything else in the space?

Dr. Mark Korson: Well, we're always looking for or people with good ideas. People who are interested in us. This patient community is so in need of friends and allies. If you have something that you would like to share or be part of, or contribute, I'm always eager to hear. Some things are not practical. But let's see, let's talk about it.

Shiv Gaglani: Awesome. We'll make sure people get in touch, and what is the best way for people to get in touch with you?

Dr. Mark Korson: I would say, if you go to the VMP Genetics website, you can get in touch with me. Once I hear from you, then I will write to you and you'll have my email address and phone number and everything so we'll be able to keep in contact.

Shiv Gaglani: Awesome. Well, I recommend our audience who's interested to get involved and at least follow the links that you've provided, and hopefully, they will be writing some poems and stories about metabolic diseases soon enough. 

So, Mark, thanks so much for taking the time to be with us on the podcast and more importantly for the work that you've done to raise the line for so many people out there who've had rare metabolic and genetic diseases.

Dr. Mark Korson: It's been a pleasure speaking today and thank you for all the good work you are doing, and for raising awareness about rare diseases.

Shiv Gaglani: Thank you so much. And with that, I'm Shiv Gaglani. Thank you to our audience for checking out today's show and remember to do your part to raise the line and strengthen our healthcare system. We're all in this together. Take care.