How GeneDx Is Shrinking Rare Disease Diagnosis From Years To Days

0:00Rare diseases sound rare, but did you know that one in every 10 Americans has a rare condition? Our next guest is working to diagnose every single one of them. Welcome to C-Suite Unscripted. I'm Maggie McGrath, your host, and today I sat down with Bryan Dechairo. He is the Chief Technology and Innovation Officer for GeneDX, a$2.4 billion market cap company working in rare disease diagnostics. Brian and I talked about how he's getting faster testing into the hands of patients and families who need it most, whether or not every baby in America should get their genome sequenced, and how much genetic information is too much information.

0:39Let's dive in.

0:46Brian DeCaro, thank you so much for sitting down with Forbes. Hey, thank you for the invitation. It's great to be here. You are the chief technology and innovation officer for a really groundbreaking company. Can you give our listeners and our viewers the 60-second elevator pitch for what you do? Yeah. GeneDx is the leader in diagnosing rare disease. You know, people think rare disease is rare, but rare is everywhere. And in fact, one out of every 10 people today have a rare disease and 50 % of them are children. A lot of people don't know this because they think of each disease as an individual disease, cystic fibrosis, learning disabilities, autism, epilepsy, and seizure conditions.

1:27But together, it's very, very common. And we've been in this field for over 26 years, diagnosing children ever since we came out of the NIH and have the leading genetic test for diagnosing children with rare disease. And just earlier today, you came out with some news that I think speaks to part of the mission of the company, but you have this digital access for parents to basically access telehealth, to access testing. Can you talk about what you announced today? What's newsy about this? And I think what I understand the value proposition to be is where there once could have been a weight of two to three years for a test, what you're unveiling today is much faster.

2:06Is that correct? It is. Let me give you a little bit of background to get to that piece, because today it takes over five years for a child with a rare disease to get diagnosed. And you can only imagine the amount of anxiety that the families go through, just not knowing what's wrong with their children, going from doctor to doctor. I have children, and then just when they're sick, I'm worried for them, but I can't even imagine if somebody had a rare condition and we're trying to figure out what's going on and have to spend five years to get an answer. And so that's what we call the diagnostic odyssey.

2:37And it's a shame because today we can diagnose a genetic disease within 48 hours. We do not need to wait five years to get that. And so what we need to do is we need to give access at the very first symptom to these families. Luckily, last year, the American Academy of Pediatrics expanded their guidelines to say that our testing should be offered for children that have learning disabilities or intellectual delays, epilepsy, by primary care physicians. Instead of needing to go to specialists for that care. And so today we are very excited to announce that we've created a digital path so that when families need answers, they can go directly to our website, get connected asynchronously to a clinician and get access to testing today without having to wait five years.

3:22They can now do that within a matter of days in order to get their results. I have so many follow up questions. Please. Starting with, I grew up with one pediatrician. I was diagnosed with asthma as a kid. Nothing dire, right? But that could be a situation where a parent wants a specialist. In this scenario, let's say someone, a child does have a breathing disorder that a pediatrician thinks is tied to a rare disease. Are the parents then bypassing the pediatrician by going to your platform? No, we actually keep the pediatrician in the loop. So as we were moving out to pediatrics, we learned a lot of things about the pediatric channel.

3:59One, you have 15 minutes to see a patient. And in that 15 minutes, you're doing things like vaccination conversations, milestone checking, understanding that they're missing milestones, and that might be a rare genetic disease, looking at their heart, giving them the physical. It's a lot of things to do in that compact 15 minutes. Imagine if you have some type of rare disease, the doctor doesn't have 15 minutes to order that test. So we needed to make these testing very, very fast for them. One minute testing, very easy to understand which test to order, give them very simple results. But it's still complex.

4:34When we have this digital offering for families today, they asynchronously can provide all the information about their child. We can get clinicians to see that information, order asynchronously, and then those results go back to our pediatrician. So we're keeping the pediatrician in the loop. We're just taking a lot of the effort around ordering, understanding, and results determination out from their complexity and then bringing it back to them to seek the care, the referral networks to specialists and others. So it's critical to keep the pediatricians in the loop on the care of the patients.

5:06How does insurance come into play? Are parents paying out of pocket to get these answers for then insurance provided coverage from the pediatrician or is insurance covering even the testing and access to your platform? Insurance is covering the testing. Luckily, you know, we've seen over time insurance coverage increase and increase and increase. And so today, the vast majority of Medicaid plans across the United States cover our testing for rare disease. We've seen commercial coverage as well expand. So around 80 to 90 percent of plans now cover our testing, which is great because in our health care system, if things are not reimbursed, they're not paid for.

5:45I mean, they're not actually utilized or covered and doctors don't want to deal with this type of complexity. And so we go through insurance with this offering. There's a small fee for the telemedicine visit for the patients. But then after that, we use insurance to pay for the testing and to then link it back to their pediatricians. I've heard you talk before about how GeneDx is integrated in Epic and regular GPs, pediatricians, et cetera, could go into their Epic and order tests, but then you have to know what test you're ordering. Can you kind of zoom out and talk about the data and technology problem that you're solving for, particularly in your role?

6:22How do you make sure that every stakeholder is educated and that parents aren't ordering tests that they don't need for their kids? Pediatricians aren't getting confused in the back end, not to say that they're confusable, but sometimes there are so many, as you've described, a constellation of rare diseases and only 15 minutes with a patient. I imagine there's a data and communication element to what you present to providers and parents. Yeah, it's technology across the board is rapidly changing. In fact, it's changing so fast that the standard of care and medicine cannot keep up with these changes and reimbursement structures can't keep up with these changes.

7:00So we're using AI, we're using different platforms like Epic, as you mentioned, and our own portal. But we also have different types of customers. the reason that the odyssey takes five years is that originally patients had to go see a generalist, like a pediatrician, and then they had to go to a specialist. Let's say you had the seizure, you're going to go to a neurologist. And then the neurologist is going to try some medications, some treatments for like general epilepsy, realizing that it's not general epilepsy. They're going to then refer that patient to a geneticist. That geneticist's wait time, there's only 2 ,000 geneticists in the United States, is going to take at least a year of wait time to go see that doctor.

7:38Those geneticists are experts. They're great at understanding all the complexity of the genes, the tests, the things that we do every single day. And so they like having huge menus of testing from us, different ones that they can pick from, ones that they can go through the results. And so we've created over 26 years, a great ecosystem for them, which we call our portal that those experts can work in, but that's not what worked for them is not what's going to work for the generalist, as we mentioned. They just need to know what is the test I need to order? Is it going to be covered? How do I interpret the results very easily?

8:11And what do I do next? And so that's what we've been trying to solve. Epic is one of those solutions because, you know, when you go to your doctor, 70 % of all health plans, I mean, all health systems are on Epic, right? Everybody knows my chart. That's how you're communicated with as a patient. And so when you're inside Epic, the doctor, we can limit the tests that they can order to like two or three. It's simple. They can just drop down the menu. Everything we need about the patient's history, their symptoms is already in the EHR. We can extract that with our AI tools. We can preload that. We know what their insurance is.

8:44So all the information that we would normally ask, we can just automatically pull through an EHR integration. So is that personalized? So for someone showing, let's just go with rare breathing disorder. So someone shows symptoms of asthma and other symptoms, XYZ, your AI pulls that data from the patient's EPIC chart and then suggests two or three tests related only to rare breathing disorders and not to the whole host of rare disease. It's a little bit like that, but just a little bit reversed. So we have really like two flagship tests that we offer based upon covering the entire genome, entire genome of a patient.

9:24Some are more narrowed onto what codes genes, like we call that the exome, and others are just the full genome. So those are our two main offerings. When you talk about geneticists, as I was mentioning, they like to pick out the panel for their breathing disorders, or I want a panel for seizure conditions, or I want a specific testing for learning disabilities or intellectual delays. And so they like to pick and choose where the average doctor can't pick and choose. So we offer them the whole genome, so they don't have to pick and choose. So we keep that simple. But the hard part for what we do is we're trying to discover a unique mutation in this patient that they did not inherit from their parents often and that has never been seen in the world today.

10:06And in order to filter that down, we use a lot of machine learning, a lot of AI tools to get that down to what is the cause. We need to get all of the symptoms out of the medical records in order to narrow that down. If all I heard was that you have a breathing disorder, I may not find the answer. But if I find out that you have a breathing disorder, you also have microencephaly, like a smaller shaped head. You also have had a seizure in your past life. That constellation of symptoms completely will change what I look at as a genetic expert and what I now can find is what's causing your disease.

10:40That's interesting. As you're describing geneticists and how rare they are, I'm thinking of a friend of mine who had an experience. And you talk about the odyssey to get a diagnosis. This friend has a child that was initially diagnosed as autistic based on the symptoms that we're presenting. And a geneticist looked at this child and said, I think you want a genetic panel for Rett syndrome, which is a very rare genetic but not hereditary condition that affects children's. It's a developmental disease. That feels like an, I don't want to say common path, but the misdiagnosis to a diagnosis. Is one of your goals to cut down that patient odyssey from five years to what's possible?

11:19How short could that journey get? Our desire is to get it down to the very first instinctual symptom or sign that a parent feels about their child. Because what we found, we did a large study based here in New York called the Guardian Study, where we were looking at not the new discoveries, but just all the discoveries was we already made over the past 26 years and said, what are those genes and variants that we've seen in the genome that we know caused problems? And which ones caused problems in the first two years of life? And we then tested children at birth without any signs or symptoms. And we were actually able to find that 3.5 % of every child born was positive for one of those genes, one of those variants.

12:02And so it kind of shows you that we could actually get to a large number of them without even a sign or a symptom right at birth. That would be the ultimate goal. But today, my first goal is let's not have this odyssey be five years after that first symptom. Let's get the answer at that first symptom. How does shortening that path affect treatment outcomes? Oh, huge. So like diagnosis is the first step to getting treatment. If you don't have an accurate diagnosis, you are on a odyssey of all bad treatments, wrong treatments, mistreatments, medications that are not working for you. It's a lot of time off work.

12:39And in fact, you know, one of the things that I've seen in this odyssey is that parents give up hope. They're not only are they anxious, very, very anxious to find out, but after a while of getting, no, I don't know, I don't know this is wrong and treating your child like guessing game, they just give up and say, I'm not going to keep going to the doctor anymore. I'm just going to live with this the way it is. And that's the worst part of this, in my opinion. If we can get an answer for a child right when the parent sees something, we can get that diagnosis. And that diagnosis is power. At that point, you now know what specialist to go to.

13:14You know what medications have worked for other people. You know a whole community of other patients have had the same diagnosis. And now you can work together in a community and really change your life. It really gives the power back to the family to take control and help that child. You mentioned that one in 10 Americans have a rare disease and GeneDx is really focused on rare diseases in children. How often are new rare diseases brought to your attention? I heard you give an interview where you kind of talked about an experience where a family reports a child has XYZ symptoms and it gets entered into a database and you kind of have to wait for another child somewhere else in the world to exhibit those exact same symptoms in order to create a match and to kind of start the the odyssey, if you will.

14:00Yeah, that's what I'm talking about, about like we're in the business of discovery. A lot of people's tests are just known information, but every single day we are discovering a new variant, a new gene that causes a symptom or causes a disease. And we need those two children to replicate that. Absolutely. We need one. And then we're like, that may be linked to the right gene that actually is in the pathway for these phenotypes. It is a brand new mutation that we know causes a problem, but we've never seen it before. It may not be real, right? And when you find that second child that has that same thing, we can actually replicate that and then not only give that child a diagnosis on that day, but go back and give that child from two years ago that accurate diagnosis as well.

14:45And imagine if that was one day into your odyssey and then two years later you got that. That's different than a five-year odyssey for that child as well. So everybody is a lot faster. In addition, we're doing this at scale. So today we are doing over a thousand genomes a day per calendar day at our labs in Gaithersburg, Maryland. And so we are the largest contributor of new genes, new variants into the government public databases than anyone in this space. And we're discovering a new gene, a new variant like every single day. That's the rate of what this is doing. I, earlier in my career, I spent my entire PhD of, let's say, four years studying the Crohn's disease, and it took me four years to find one gene.

15:28We are finding a gene or a variant every day at GeneDx. That's brand new. We get into some maybe potentially murky ethical territory here when I ask this next question, but should everyone be getting their genomes sequenced? And is that better for human health or is that worse for human existence? because of data concerns? And then could you know too much? So these are all three good questions. So like number one, data concerns and data security has been number one for us for the 26 years we've been in business. We always make sure that we have a secure system for all of this data. And in fact, we talked often about AI.

16:04One of the earlier times with us, we using things like CLOD or other, these hyperscaler ways to do AI coding was that they weren't HIPAA compliant. They weren't able to handle PHI. And we had to make sure that we could first secure our data before ever using those types of tools. And now we're using them and we have great advancements, but security is at the forefront of everything we do. That's number one. And we've never had any issues with breaches or anything on the data side. So once we have that secure layer of how we handle that data, because this is very valuable and secure data that we need to, that these patients trust us to hold, we need to take care of it.

16:37But I think the data is what then drives the discoveries. I think that's very, very important aspect is that without the million exomes and genomes of 2.5 million patients that we've tested, we wouldn't have the data that AI can then sit on top of with our machine learning algorithms and our agentic approaches and actually find these discoveries and make them available to the public as well. I missed a part of two parts of your questions, but - I think I was, this was more broad because I was asking about everyone and not just kids, which is the patient population that we deal with the most. But in terms of genomic sequencing, Is that something that every new baby should have?

17:16Are we moving in that direction? We are completely moving in that direction. In fact, we're leading the way with studies, like I mentioned, the Guardian studies. We're part of the Bridges study right now. We're working with the state of Florida with the Sunshine Act in order to get genomic newborn screening. As I mentioned, 3.4 % of every child born is positive on a known, not a new discovery by us, but a known past discovery by us today. And that's just growing and growing every day. as I mentioned. If you kind of relate back to the time like I, when I was at Myriad, Myriad was the finder of this breast cancer gene called BRCA.

17:53And today, BRCA testing for hereditary breast cancer is offered to every woman as standard of care, and it's only positive in 3.4 % of people as well. So if we're offering something that is standard of care for breast cancer that's only positive 3.4 % of the time, then shouldn't we be offering our testing that's positive 3.4 % of the time for every single baby born? And as I said, today, we're doing about 1 ,000 genomes a day. But imagine doing 4 million patients born in the United States every day for this type of testing. That's the world it should go to. I think your next question, which I would just like to touch on, was, but then what's the right time to release that information?

18:36Because I have two children, And I could tell you that when they're born and you're going through the struggles of like just your first child breastfeeding the right milk, like it's a very hard time to find out about something. My sister, my niece has PKU. It's a rare genetic condition that doesn't allow you to break down protein. And if you don't know about it, it's toxic. Luckily, they test for, you know, at birth and the hill prick test that we're all used to seeing. That ability to get that information while you just gave birth and then have to deal with that struggle is very challenging. And you already had a diagnosis.

19:13Imagine being in the NICU, having these issues. You need answers, but you need them at the right time. You don't need to find out that you're going to have breast cancer at 20 or 25 when you're born. It's not the right time to learn about that finding. It's not the right time to learn about Alzheimer's when you're born. You need to learn about Alzheimer's when you may get Alzheimer's later on. And so we need to release the information at the right time to patients, which is why I'm very excited about EHR data and the ability to constantly monitor patients and what's happening over their lifetime, and then let them know more and more about their blueprint and their DNA as their life develops and not a big bolus of it right at the very beginning.

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20:21No brain dump at the beginning. No. Makes sense to me. No brain dump at the beginning. That makes sense. We could probably have a five-hour discussion about whether or not people want to know about some of these conditions that you just named because I spoke to a founder in the cognitive neurospace, and she is building something with therapeutics now. She was initially building a detection tool for neurocognitive decline, and she had investors tell her, there are no treatments for the diseases that you are trying to detect. We don't want to know if we have them because what's the point in knowing if we have them if there are no treatments?

20:54What's your response to investors who would say something like that? Yeah, it's interesting. So when I was at Pfizer, I was part of the neuro area for Pfizer for molecular medicine and mild cognitive impairment, early diagnosis of Alzheimer's disease was one of our main goals. In fact, my mother has Alzheimer's disease. And it's so important. Knowledge is power, right? Diagnosis is power. When you know that something is going to happen to you down the road, you can take action. You can talk with your family, you can make plans, you know, you can have high quality of life, even if there's not a therapeutic.

21:30But the other big power of knowing is it allows us to actually start working on therapeutics in bigger populations earlier. So a lot of the recent releases of new antibodies for Alzheimer's disease were things that we were working on at Pfizer 20, 25 years ago. And now they're finally being out in the market. Takes a long time to make a drug, but they work early. If you give them too late, there's no benefit to the family. There's no benefit to quality of life. That would have never been possible without early diagnostics. So it begins with the diagnosis and then opens up the ability for pharma to then go in and find new therapeutics.

22:06Brian, you mentioned AI and some of what GeneDx does. And we've talked to a number of C-suite executives about just how fast AI technology is evolving. It can be hard to keep up. healthcare can move in sometimes a slower pace. How do you reconcile that dichotomy and how do you make sure you have the AI tools you need to do the work that you most need to do? Yeah, it's interesting because AI is now fashionable because of chat GPT and large language models. But AI tools have been around for like 30 years. Earlier on, we would use a bunch of tools in our toolbox at that point, principal component analysis, regression analyses.

22:45We do like rules-based algorithms, which is some of the earlier diagnostics we created were based upon that. And then we moved into the machine learning phase. And in fact, GeneDx has been using machine learning on the power of our Infinity database, which has, again, over 2.5 million patients in it. We have over a million genomes or exomes. All of this phenotypic information is diverse. And machine learning loves big data sets. And we have the largest disease, rare disease data set in the world. and our ML tools, we're trained on that to then find those new discoveries. As I mentioned, we're discovering every day.

23:21The ML tools have that discovery. Now people are talking about large language models. And of course, DNA is a language. DNA is letters and letters create little like sentences. And those sentences are your genes and they're your blueprints. And we have different chapters, different chromosomes and different chapters of that book. And all of those books make us. And so you would think that these large language models would be perfect to be trained on DNA because DNA is a language. And they are, and they're good foundational models for us in there. But what we've seen is that actually our ML models on the power of our data are even still better at predicting the new genes, the new discoveries, than the agentic LLM approaches are today.

24:02But now we're harnessing the power of agentic approaches in so many places. EHR, I mentioned to you that we are a phenotypically driven diagnostic. And at the very first symptom, that's your first symptom. But then if you go on to get seizures, or as you mentioned earlier, you have autism, but then you have an autism plus some other features. Each time you have a new symptom, it can change your diagnosis. And we want to be able to capture that information and then relay a new discovery, a new thing to that patient over that lifetime as we get that data. And then also use that EHR data to predict, like based upon all these other people that have your same diagnosis, this is what's happened to them.

24:39This is what might happen to you. Here's what worked for them. Here's what's not. The power of the agentic approach to look at all of those clinical notes, all of that information, and harness it to predict the future is something I'm very, very excited about. But I've seen a lot of risks when it comes to AI. Number one, AI is only as good as the data you point it to. And so we've seen where people are pointing their agents at just broad databases. GNDX has the largest compendium of specialized information with our geneticists about rare disease. So we point our compendiums at our patient population, at our knowledge base, and then clinicians can have access to that about what to do next.

25:20Instead of looking at a chat GPT, they can look at the rare compendium database and get the best answers for their patients. So we have to have the right data. And then we also have to have what I think is really important is this trio or this three-legged stool that we are using today at GeneDx every day, which is you need to have subject matter experts. And at 26 years in our business, we have a lot of subject matter experts. In fact, of the 2 ,000 geneticists in the United States today, like 100 of them work at GeneDx because we're always keeping experts in the loop. So we need to have those subject matter experts.

25:57But then we also need to have these, you know, technology experts who really know prompting, coding, cloud coding, Gemini coding, all different ways to use the different tools in their best ways. And then we need to have the vision person. Oftentimes these subject matter experts are stuck in the way that they've done things. So they just want faster horses. We need people that can imagine a future that's completely different. And when you combine these three people in the same room, you actually will get faster acceleration to better products that you could have never imagined without AI helping you get there.

26:31Well, you've alluded to your career and to your journey to your current seat. And we do always like to ask executives, how did they get to the C-suite? So I'd like to go back to the beginning. You did your PhD in common human genetics and you have ended up in rare disease. But let's start with that first job. You were a scientist at Roche. You were fungal diseases, so that sounds pretty common. What made you get that first job and what did you learn? Was there one hard skill and one soft skill that you learned? Well, the soft skill I learned is like being at the right place at the right time and getting a hold of it, right?

27:04Like pursuing it. So I was very lucky. I was a biology major at Berkeley at the time. And interestingly enough, they want you to take two plant courses. And I was like, I'm not that interested in plants at that point in time. And so I was like, well, what else is not the animal kingdom? Oh, the fungal kingdom and the algae kingdom are not the animal kingdom. So I went into mycology, and my professor was in this great relationship with Roche with early access to the very first ability to sequence human DNA and other DNAs. And because he was a fungal expert, he was trying to identify the sequences of various different fungal diseases.

27:44And at that point, we didn't have the tools to understand the difference within a human, but we could easily see what was fungal and what was human. And so we have finally started creating accurate diagnostics at Roche where we could say, I get a specimen. I can tell you that this is fungal and I can tell you exactly what type of fungus it is. And that changed all of the treatment paradigms for those individuals. And that was differences between species. I think we're very different at the species level. Very different at the species level. So from Roche, you go to Sequana Therapeutics. There's a lot of scientific jargon in this job description.

28:20So I'm just going to ask in layman's terms, what did you do there and what were the practical skills that you learned? This is where we began working on common diseases, right? So we were then starting to really go to populations of people that had one specific disease, a common disease like asthma, as you're saying, or Crohn's disease and or breast cancer, for example. And taking that group of people that have a disease and then a group of people that have never had it in their life and seeing what is difference between their genomes? Like, what is different? And then find those disease-causing genes.

28:53And we found a lot. As I mentioned, Myriad, who was a competitor to Sequana Therapeutics, found breast cancer genes. Sequana did not really find many genes on their front. But subsequently, I went to another company called Oxford Applied Genetics or Oxygen in the Wellcome Trust Center in the UK where I did my PhD. And we found what caused Crohn's disease for inflammatory bowel disease. We found what caused thyroid disease and Graves' disease. And so we started ramping up our ability to discover these common causes of diseases. It's interesting to talk about discovering these genes. Crohn's disease, Graves' disease, they feel like common parts of the vernacular now.

29:35But at the time, did they feel like rare diseases or were they considered common then? It's interesting. They were called inflammatory bowel diseases, right? And so like, just like cancer, where it was like cancer. And then it was like, no, there's like breast cancer. There's like colon cancer. And then there was like subtypes of cancer. Inflammatory bowel disease, it's the same way. It was like polyps. No, there's inflammation. There's like all sort of colitis. There's Crohn's disease. And so once they started getting names, that allowed you to break populations into different groups and then really find what was causing those.

30:06The smaller you break a group, it's easier to find what the cause is. Which we are seeing in oncology quite a bit. And hopefully neurology continues in that direction, too. From Oxygen, you went to Pfizer, where you led a 15-plus matrix-based organization, including translational medicine, personalized medicine, clinical technologies, molecular profiling, statistical analysis, and more. I imagine there were a lot of communication skills you learned in that job that's important for rare disease and genetics and medicine in general. I often find there are scientists who are brilliant. But if you can't break that down for the regular audience, it's hard to grow a company.

30:44It's hard to gain patient trust. Maybe you can get clinician and provider trust. But nonetheless, that's my projection of what you learned. But talk to me about that job and everything that it gave you. That was probably the best learning ground I ever had was my time at Pfizer. I sat in the world of development, which is my favorite place to be because you're bridging research and commercialization, right? And you have to be strategic about it. As you said about scientists, scientists love the gadgets that they create, right? So like, I like DNA. I like proteins. I like wearable technology. I like blister pack technology for a pill.

31:19And so I had all of these really cool, innovative technology people, specialists who really thought that their hammer was what was important for every drug development program. And my role there as a head of molecular medicine was to look at all of the different technologies, look at what the commercial business needs were that the commercial team at Pfizer here in New York was setting and say, how do I bring these tools together in a unique combination to then maximize the value to the patients of these medications across research development and the commercial space for all of our drugs at Pfizer.

31:54And it was great. It's like, I love things where there's like a whole bunch of options. You have to pop some of the balloons. You have to put balloons uniquely together in a new arrangement. And then you have to get everybody's buy-in. Like, let's go launch this one. This is the way to go. And I find this important. And at GeneDx, that's what we're doing all the time because we can use AI all across our platform. We can make things faster. We can go give the genome for life to patients for out there. We can move back to genomic newborn screening. We can get out to generalists. They all need different tools.

32:24And my job is to say, how do I make the trade-offs between our platform, our speed, our cost of goods, our scalability, AI, and all of these innovations and package them up in a way that will best deliver the value to end the odyssey and get to that very first sign or symptom for these patients. I imagine the answer for the how do I make that decision depends on the use case that you're analyzing at the time. And likewise, you mentioned every scientist thinks their hammer is perhaps the best hammer to use. Are there negotiation tools that you learned or absorbed in that role at Pfizer that people in other industries could perhaps learn from?

32:57Like, did you ever have to say to a scientist, like, I know you think that this is the best possible solution, but actually we're going to go with this other team because they have this distinguished factor in what they're producing? Yeah, I think data for me, data has always been the key translator when you're translating to scientists. Right. And even translating to the business. which is, you know, what is the goal? Why do we feel like these tools will actually give you that success? What's their risk? What's their timeline? And really have that matrix between like risk, benefit, and time. It's like a three-dimensional plot.

33:29And then communicate to people where they are and get people to have buy-in. Like my favorite leadership book, as I always mentioned, is like Koons and Posner. It's like the leadership challenge. And they talk about the four skills of great leaders. And one of them is competency in what you do. One of them is transparency, which I live every day, like being open and transparent with people. But the two most important ones is casting an inspirational vision of the future and being forward-thinking enough to know that with long timelines, here's where the world and this technology is going to convey at the right time.

34:03And like building that path, because what's working today will not be what's working tomorrow. and if you don't know what tomorrow looks like and you can't imagine it, then you will actually build something for two years, launch it in a new world, and that world has changed and it no longer has value. And so it's communicating back to why I love this idea today to these scientists, but here's the data, here's where we're going, and here's why I think it won't be a big enough solution for what we need. I think that's a good lesson for anyone working in tech right now, not even science, just tech writ large.

34:32I'm gonna leapfrog Medco Health to go to, Well, it's funny because you've been at all these commercially available places and then you end up at the University of Cincinnati in academia. Yeah. Why? Well, I will. I'm going to jump to that. I'm just going to say one thing about my Medco days and why I went there because I completely I went to the payer side. OK. And I will say that at Pfizer, what I realized was therapeutics, they get approved and they immediately get paid for at high values. And everyone in the U.S. has access to these new medications. In diagnostics, we get regulatory approved and no one has access to it.

35:12No one pays for it. And so you have to get guidelines and you have to get payer coverage. Then you have to prove that you have value. And then you finally get paid. And I was like, and they get paid at a lower price than therapeutics. And I was like, this ratio is wrong because diagnostics is what informs which treatments will work and what will not work and what you should get. So without the diagnosis, treatments don't matter. And so it was like the value should be on the most accurate diagnosis, not on the therapeutic side. And so I wanted to rechange that balance at Medco, which is one of the attempts I tried to do there.

35:46But going back to your question. Well, actually, hold on. Now that you made that argument for talking about this, the industry versus academia is a debate that a lot of my friends have, which is why I jumped over Medco. But when you talk about diagnostic versus therapeutic and what's reimbursed, it gets back to preventative care versus reactive care. And where is there more money? And as the editor of Forbes Women, which is a hat that I wear when I'm not hosting C-Suite Unscripted, I see a lot of founders working in the preventative care space. But there seems to be less money for those founders than those who are working in a more, quote unquote, reactive capacity to disease that has already taken hold.

36:25And sometimes you can attribute the funding gap to the gender gap. But I think other times I think that gap still persists. You alone did not close it, cannot close it. But what did you learn while at Medco about working towards a future where there isn't quite that gap? You have to really work on the triple play. I always call this triple play. But like there is the payer in our industry. There is the provider and what they want. And there is the patient, which is the most important and what they want. Right. And you need to be able to engage in them all and to understanding like why this is valuable and why is it a value to the patient?

37:01They should be aware of it. They want that diagnosis. They want that anxiety to end. They want to have a clear path. The provider, they want to do what's right for their patients, but they only want to do things that are actually going to be paid for and reimbursed because they don't want to deal with the complexities of technology not getting paid for. And the payers only want to pay for technologies that actually are proven and work. And so you actually have to make sure that you're working with all three simultaneously and have a win-win-win scenario for all three of those players. Obviously, in the rare disease space, five years of an odyssey down to 48 hours, you know how much cash savings you're saving after all these appointments and all of these different issues.

37:41The issue becomes reimbursing new technology versus old technology because going to a doctor has been reimbursed for decades. And so going to the pediatrician to go to a specialist, to go to another specialist, to go to another specialist is paid, paid, paid, paid, paid, right? Right. The novel advanced diagnostic is not they're not keeping up with the innovations that we have today. And so if they if that was paid for and used up front, then all of those other things that are paid for will no longer need to be needed. And that would save a lot of money. But doctors do what's paid for today. We just have to change the system a little bit.

38:16Just a little bit. OK, now I will ask the academia question. You've been in industry most of my entire career, your entire career. And then we see University of Cincinnati, a great institution, I will say. Wonderful research comes out of there. But again, industry to academia is a bit of the reverse of what we see sometimes. Why? So it wasn't academia. So I was at a company called Assurex Health. It was a spin out of Cincinnati Children's and the Mayo Clinic. And so I've always been in this area where I have these great, great companies that have founded us. Like GeneDx came out of the NIH 26 years ago to take their discoveries and turn them into clinical testing to have access for all patients in a clinically regulated way.

38:55Cincinnati Children's and the Mayo Clinic created the first test to help find what medications would work, would not work for you in the mental health space. In the mental health space right now, the number one thing is treatment. Psychiatrists will prescribe something and there's like over 55 medications and we don't know which one to use. And so I've always wanted to be at the forefront of being able to use genetics to do something different. And at AssureX, we use genetics to say, here are all the medications that won't work for you. I can't tell you what will work for your mental health, but I can tell you that if there's a needle in your haystack, I will remove as much hay as possible to make that needle easier to find.

39:35And so I've always been trying to change paradigms with genomics. And now at GeneDx, we have the paradigm shifting of, I have to get sick, I have to have five years of symptoms to a point where every child at birth should be getting this because 3.4 % of you are positive every single day when you have a child born. I do realize I read your resume from the bottom up instead of top down, and I would have realized the Assurex spin-out part. But this is, is this your first time in the C-suite at Assurex, your chief medical officer, chief science? It was, yes. I was chief science officer and chief medical officer there at Assurex, my first time in the C-suite.

40:12It was a small startup company. We had 50 employees when I I joined and we grew up to 500 employees. We scaled the access. We showed the evidence in the American Psychiatric Association, created guidelines for it. We got coverage by Medicare, coverage by United. It was like the first time taking something brand new and building the entire package to get it fully reimbursed and fully utilized. And now that test, which was acquired by MiriGenetics, the GeneSci test is the most common test for mental health conditions. And you end up at Myriad Genetics. But just to kind of zoom out, you're in the C-suite now.

40:49You are a doer, it seems like. You like the research. You like the doing. I do. How do you like being in the C-suite? Is that something you aspire to, or is that just a natural byproduct of gaining seniority within your industry? No, I've, I've, I, from day one, like my family has always been in healthcare. My, both, my grandfathers were physicians. My father was a pediatrician. My mother was chief nursing officer in, in, in California. Um, my grandmother created the first hospice, uh, in the United States, Elizabeth Hospice in Southern California. Uh, so we've always been in industry and we've always been in healthcare.

41:24So like, I knew I wanted to do that from the start. And I wanted to like work my way up to be a successful businessman as well as a scientist. I didn't want to be an academic scientist. I wanted to bridge that gap from great discoveries to true clinical utilization and getting as many patients helped with these technologies today. And you do that by being able to move up in companies and deal with all of the complexities of the day-to-day, the quarterly earnings, the quarterly needs, the yearly needs, the long-term plan, and that ability to have all of these different pieces and moving parts and balls in the air, juggle them, and keep that long view and that forward thinking and that inspiration, but have the ability to take us from present state to that state is where I get most excited every single day.

42:09Okay, so since you like going from present state to future state, I'm going to end by asking, if we were to speak one year from now, what would you hope to report to Forbes that you and GeneDx has accomplished in the ensuing year? In one year, and I'll tell you where I want to be in five years too. Okay, great. In one year, I would love to come back here and say to you that this generalist channel that we've just opened up and we've also now opened it up through this digital offering for parents to go directly to clinicians and get testing, that that, which is currently a new part of our business, becomes at least 50 % of our volume growth in our business.

42:43It'd be great to get to that point. One year would be a challenge goal, but it would be wonderful to get to that point. And I believe that that's where all the patients are because so many give up hope, they never even make it specialists. So that would be my goal. In five years, I would love for us to be predominantly in that first symptom space and that we're starting to see a lot more children being tested at birth because that's where we can offer from the point of entry into life through the rest of your life, the help that your genome can give you. We will have to have you back to report on that progress, but in the meantime, Brian, thank you so much for sitting down.

43:17Thank you, Maggie. Appreciate it.