Latest / CareTalk: Healthcare. Unfiltered. / How Genomics Is Transforming Rare Disease Care w/ Katherine Stueland, CEO, GeneDX

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How Genomics Is Transforming Rare Disease Care w/ Katherine Stueland, CEO, GeneDX · CareTalk: Healthcare. Unfiltered.

• 0:07
  John: Welcome to Care Talk, America's home for incisive debate on healthcare, business, and politics.
• 0:12
  John: I'm John Driscoll, the CE, the Chairman rather of the Yukon Health System.
• 0:18
  John: And today we have the CEO of Gene Dx.
• 0:22
  John: Katherine Stueland.
• 0:23
  John: Katherine, welcome to the show.
• 0:25
  Katherine: Thanks so much for having me, John.
• 0:28
  John: And maybe you could start by talking a little bit about your background and how you got to this fascinating area of genomics, healthcare, and science that's sort of exploding at this red hot moment, but set take, take us back a little bit in your career.
• 0:46
  John: Well, how did you get interested in this area and how did you come to become the CEO of this company?
• 0:52
  Katherine: Well, it's, it's interesting.
• 0:54
  Katherine: I, I think about the first time that, um, I learned about genetics was actually when I was around 11 years old.
• 1:01
  Katherine: I went to a, a family reunion and, um, sadly learned that I had, um, I had two family members who were young, who had been diagnosed with cystic fibrosis, um, one who had already passed away.
• 1:15
  Katherine: Before turning 16.
• 1:17
  Katherine: And her younger brother, um, was, was quite ill and I met him.
• 1:21
  Katherine: So I became interested at an early age, um, in about healthcare, about genetics, about why, um, why some people were, were facing.
• 1:34
  Katherine: Um, you know, at the time, cystic fibrosis was.
• 1:37
  Katherine: Um, was a, a, a lethal diagnosis.
• 1:40
  Katherine: Yeah, exactly.
• 1:42
  Katherine: Um, and I, I raised money for the Cystic Fibrosis Foundation, um, after, after leaving that, that family event.
• 1:49
  Katherine: And so, you know, I think very much this whole notion of science, genetics, advocacy, um, really was embedded in me, um, at, at a young age and, and started my career in the therapeutics world I worked on, um.
• 2:06
  Katherine: The first protease in inhibitor to be approved by the FDAI worked on the first cancer immunotherapy, but every step of the way, patient advocacy has been a huge, huge part of what has motivated me, what has inspired me.
• 2:20
  Katherine: Um, and without a doubt, the, the world of rare disease, um, is advancing not just because of better technologies, but.
• 2:29
  Katherine: Um, but because of the incredibly powerful voices of patient advocates, so that, that would be, I would say the, the most important role that I've played is as a patient advocate.
• 2:41
  John: But, but did you, did you start in the therapeutics or effectively drugs that are really been transformational in our generation at turning things like cystic fibrosis into a chronic disease?
• 2:52
  John: You know, when my sister had cystic fibrosis, it was a death sentence.
• 2:55
  John: She died before her first.
• 2:56
  John: Birthday, and I knew kids in high school who we, we, we were in our high school who we raised money for.
• 3:04
  John: To your point, when I was in high school and who didn't, didn't, didn't survive.
• 3:08
  John: And yet now kids with cystic fibrosis can grow to become adults, get married, have kids, and live to a, a, a, a, very healthy, at least middle age and hopefully old age through the advantages of, of drugs and therapeutics, um, that, that.
• 3:26
  John: Maybe talk a little bit about what's changed in cystic fibrosis so we could get a sense of the possibilities of what we otherwise might be able to do in other forms of, of, of genetics related chronic disease.
• 3:41
  Katherine: Well, I'm, I'm so sorry for the, the loss of your, your sister and I, I do think that, um, the, the example of cystic fibrosis is an incredibly powerful one.
• 3:53
  Katherine: Um, you, you know, firsthand how devastating it was back in the day, and yet, um, because of money that was raised through the Cystic Fibrosis Foundation, um, and because of, um, a really passionate.
• 4:09
  Katherine: Parents who were raising awareness of this problem, all of them trying to figure out how to save their child.
• 4:16
  Katherine: Um, all of them knowing that, um, the work that they were doing may not actually save their child, but could save a child in the future.
• 4:24
  Katherine: And indeed.
• 4:25
  Katherine: Um, those voices, that advocacy raised so much money that, that really fueled, um, the, the, the biopharma revolution that brought us, um, the, these now breakthrough treatments from Vertex and, and other companies that are enabling people to live longer lives.
• 4:44
  Katherine: So, so these conditions are no longer a death sentence.
• 4:47
  Katherine: So I, I think cystic fibrosis is that picture perfect example of research of good science of.
• 4:54
  Katherine: Uh, of parent and patient advocacy, um, uh, all coming together, uh, to be able to fuel, um, generational change in, in one disease.
• 5:06
  Katherine: And of course, there's 10,000 rare genetic diseases.
• 5:11
  Katherine: Um, we, we used to think that there were 7,000, but we're actually making new gene disease correlations through the work that we're doing at GeneDx.
• 5:19
  Katherine: That is, that's showing.
• 5:21
  Katherine: One, that there are more, um, rare genetic diseases than we believed, and two, that these rare genetic conditions are actually more prevalent than what we ever believed as we test more patients.
• 5:35
  John: Yeah.
• 5:35
  John: Just, just to pause there.
• 5:37
  John: Uh, I think the word rare disease gives people the sense that those are people over there and not, not folks who are relevant to.
• 5:48
  John: The rest of the population.
• 5:50
  John: As we become more precise in our analytics, we find that there, there a lot of these diseases have signatures or personalities or elements of, uh, identify that are smaller, but there's a lot of these small, I mean, how common are rare diseases for the general population?
• 6:08
  John: What, what qualifies in that, in that category?
• 6:11
  Katherine: You know, I, I'll give you an example about one in six children, um, have at least one developmental delay or developmental disability.
• 6:19
  Katherine: Um, and so, uh, it tends to be so much more common.
• 6:24
  Katherine: Um, patients with rare diseases, uh, constitute about 10% of the, the US population.
• 6:30
  Katherine: Um, there's 300 million people worldwide with these genetic diseases.
• 6:35
  Katherine: Um, and so that's massive.
• 6:38
  Katherine: It's, it's massive.
• 6:39
  Katherine: And, and when we think about, when we talk about rare disease and then we talk about epilepsy or autism or developmental delay, people, you know, the light bulb goes on and people say, you know, I, I'm of course familiar with epilepsy.
• 6:55
  Katherine: But when you think about in, in the case of autism, there's 800 genes associated with autism.
• 7:01
  Katherine: Um, and so it's a similar phenomenon as, as what we know in cancer, cancer is actually a constellation of all of these, um, uh, genetic diseases.
• 7:11
  Katherine: It's the same thing with rare diseases.
• 7:13
  Katherine: But I, I agree with your comment.
• 7:15
  Katherine: We, we actually need to shift the conversation from.
• 7:19
  Katherine: Rare to, to genetic medicine because ultimately any genetic disease, um, we should be able to diagnose as early as possible.
• 7:29
  Katherine: And with all of the investment that is being fueled into biopharma, into gene therapies, into gene editing, um, we're actually in a place where we're starting to talk about.
• 7:40
  Katherine: Cures, um, therapies come before cures, but we're starting to see in the case of baby kj, um, who, who is, uh, diagnosed and treated at chop.
• 7:50
  Katherine: Um, that's a great example of a child who is cured.
• 7:55
  Katherine: We have examples of children,
• 7:56
  John: and that's the use of crispr, right?
• 7:58
  John: That where, where, where, where the, the.
• 8:02
  John: Wonder, the amazing tool, the editing tool that was, well, it's unclear whether Jennifer Doudna or the Bang Bang Pang at, at, at, uh, MIT get credit for it since I think that's still being battled out.
• 8:16
  John: But the, the reality is we have now tools to, to, to potentially repair or replace some of the genetic, um, um, uh.
• 8:32
  John: Defects, if you will, that if if, if it care.
• 8:35
  John: I wanna be careful with my language here that can trigger.
• 8:38
  John: Disease and if we can reverse them or edit them, potentially save, literally save the child that was otherwise at a, at a short term, very terminal illness.
• 8:49
  John: I mean, it's, it's pretty amazing.
• 8:51
  John: I mean, it's a, it's a, it's a, it's a quite a powerful and dangerous engine, but one that could be transformational, Catherine, maybe.
• 9:00
  John: Now that we've sort of laid, laid out the playing field and the opportunity and the transformational possibilities of being able to fix what may be broken in our, in our, in our essential coding, um, talk a little bit about what your company does and what you, what you hope it will do in the future, and how it can play a role in helping us save more children.
• 9:23
  Katherine: Well, the, the company that I have, the, the privilege of leading, uh, is called Gene Dx.
• 9:30
  Katherine: We were actually funded and founded at the, the National Institutes of Health, um, more than 25 years ago by one of the leading geneticists, um, Dr. Sherry Bales, who, um, who is known as the person that if, if.
• 9:47
  Katherine: You couldn't diagnose a child if it was just too complex of a case you, you'd reach out to, to Dr.
• 9:54
  Katherine: Bales.
• 9:54
  Katherine: And she would be able to, to, uh, to break down the complexity and, and diagnose that that child.
• 10:01
  Katherine: And, uh, so the company grew out of her growing caseload.
• 10:07
  Katherine: Um, I joined the company five years ago really to help scale.
• 10:12
  Katherine: The business and to be sure that as many families, um, both in the US and around the world, have access to our technology today.
• 10:22
  Katherine: Um, and so we use whole exome sequencing and whole genome sequencing, um, on a growing number of, of families.
• 10:32
  Katherine: Um, in order to get them a diagnosis.
• 10:34
  Katherine: You of course cannot treat.
• 10:36
  Katherine: That which you cannot diagnose.
• 10:38
  Katherine: And so the importance of the earliest possible diagnosis, um, cannot be understated.
• 10:45
  Katherine: And, and the problem today is that it still takes, on average five years for a child with a, a genetic disease to get an accurate diagnosis.
• 10:56
  Katherine: And it's because these tests are used way too late.
• 10:59
  Katherine: Wow.
• 11:00
  John: Wow.
• 11:00
  John: Say that again.
• 11:02
  Katherine: It, it takes on average five years.
• 11:05
  Katherine: So if you think about a, a child who is, uh, two years old who has a seizure, that child is on average not getting diagnosed until they're seven.
• 11:16
  Katherine: Um, but we can in reality provide an answer within 48 hours, um, or, uh, just within a few days or weeks.
• 11:26
  Katherine: Um, and it's, it's
• 11:27
  John: and, and, and can, how, how do we get how.
• 11:31
  John: What, what would you tell a parent or a parents of a, a child with a potential genetic or, or potential undiagnosed genetic disease, and how would that parent know to, to, to, to get tested and, and, and cared for?
• 11:48
  Katherine: Yeah.
• 11:48
  Katherine: A, a big part of what we're, we're aiming to do is raise awareness of the fact that this technology is available to, to parents today, um, through their, through their doctors.
• 11:59
  Katherine: Um, in fact, the American Academy of Pediatrics updated their, their guidelines that, uh, directs.
• 12:06
  Katherine: General pediatricians to use this testing if there's a child where they believe that there may be global developmental delay.
• 12:13
  Katherine: Um, and so what we wanna do is educate pediatricians to utilize this testing so that way they're not, um, proliferating, um, this, this delayed diagnosis by referring the child out to a specialist.
• 12:29
  Katherine: Um, and, and just to quantify for you, um.
• 12:33
  Katherine: You know that that five year diagnostic odyssey.
• 12:37
  Katherine: It usually is the result of parent going to a pediatrician, pediatrician not being familiar with this testing, referring out to a pediatric neurologist.
• 12:47
  Katherine: The neurologist may not, um, uh, utilize the testing.
• 12:52
  Katherine: They refer out to a geneticist because there's only about 2000 geneticists.
• 12:57
  Katherine: There's on average a one to two year wait time to see them.
• 13:01
  Katherine: Wow.
• 13:02
  Katherine: And these are, so we've gotta solve these for
• 13:04
  John: vulnerable kids.
• 13:05
  Katherine: Exactly, exactly.
• 13:07
  Katherine: So we wanna be able to drive, uh, testing way earlier in that child's journey.
• 13:13
  Katherine: And,
• 13:13
  John: and so what does, what does your company do?
• 13:16
  Katherine: So we, we are educating clinicians and parents about this testing.
• 13:22
  Katherine: And then, um, they send in a sample to our lab, um, which is in, in Gaithersburg, Maryland.
• 13:29
  Katherine: Um, we take, uh, that it's either a saliva sample or a blood sample.
• 13:34
  Katherine: We run it through a sequencer.
• 13:36
  Katherine: Um, but realistically, anyone can buy a sequencer.
• 13:39
  Katherine: Um, the, the, the really hard part is taking a genome's worth of information and translating it, um, accurately and quickly and cost effectively.
• 13:49
  Katherine: So I think our secret sauce really comes down to taking that raw, um, genetic data from the, the sequencing and being able to turn it into an actionable result.
• 14:00
  Katherine: Um, so we're providing that report to the clinician and the parents.
• 14:05
  John: And, and does the parent call you and engage you as a, as a clinical support, if you will?
• 14:12
  John: Or does the doctor do it?
• 14:13
  John: Like how do, how do people find Gene Dx?
• 14:16
  Katherine: So we, we work with clinicians, so a clinician has to order our test today.
• 14:21
  Katherine: Um, we're not a direct to consumer company.
• 14:23
  Katherine: We think it's really, really important that, um, the information that we are providing is, um, is.
• 14:31
  Katherine: With the, the true custodian of that child's health, which is the, the doctor.
• 14:36
  Katherine: Um, so we work with doctors.
• 14:38
  Katherine: We're, we're starting to educate parents though, as well because there's no better advocate for a child that than their parents.
• 14:45
  Katherine: Um, and so we want to be able to arm them with the, the questions that might help, um, prompt the, the, the pediatrician to, to, to order our tests.
• 14:55
  John: Can, can any pediatrician order that test and is it covered by insurance?
• 15:01
  Katherine: It is, it is.
• 15:02
  Katherine: So any pediatrician can order a test today.
• 15:05
  Katherine: Um, and, uh, 80% of American lives are covered through, uh, commercial insurance as well as through agro growing number of state Medicaid programs.
• 15:16
  Katherine: About half of the families that, um, that we serve rely on Medicaid, um, in part because of the, the high costs associated with not having an accurate diagnosis.
• 15:29
  John: Well, and then half of the babies, nearly half the babies in the United States are born on Medicaid.
• 15:33
  John: So it, that, that stands to recent.
• 15:35
  John: So parents can, can, can advocate with doctors to get this, get these tests.
• 15:42
  John: You do the, the and and, and What would if, if you are a parent.
• 15:47
  John: You don't know that your child has a genetic disorder or a potential snip that's misplaced or something that needs to be adjusted, fixed, or, or, or you, how do you know to even ask Catherine, what would you tell the average parent of two or three kids to, to watch out for and to, and, and, and, and what, when, and when and when, when into whom?
• 16:10
  John: They should call you or advocate for your tests.
• 16:15
  Katherine: You know, I, a couple of things on this one.
• 16:18
  Katherine: You know, when, when you're noticing that your child is not reaching certain milestones, um, if you're concerned about that, that's when you should be going to your pediatrician and, and raising that.
• 16:29
  Katherine: Um.
• 16:29
  Katherine: What we find, of course, is so many parents are relying on Google and chat GPT today.
• 16:36
  Katherine: Um, and so we wanna make sure that we can show up there to, to be able to educate them so they can have a more, um, I would say educated and informed conversation.
• 16:47
  Katherine: With their clinician.
• 16:50
  Katherine: Um, but I think whenever, whenever you're, you're concerned and, and, and you are unsure of what may be going on, if it's, if it's missing milestones, um, that's the point at time in which Pay
• 17:02
  John: attention.
• 17:03
  Katherine: Pay attention.
• 17:04
  Katherine: Exactly, exactly.
• 17:05
  John: And call and, and a and ask for help.
• 17:08
  John: So a parent talks to a doctor, the tests come through.
• 17:13
  John: How often do you find something?
• 17:16
  John: That a doctor needs to think about in terms of adjusting or pursuing new forms of care for the children that are, that are being, that are being tested and sequenced.
• 17:27
  Katherine: Yeah, it, it depends a bit on what kind of sequencing that we're utilizing.
• 17:32
  Katherine: Um, you know, it's, it can be about 20 to to 40% of the time depending on if we're running an exome or a, a genome.
• 17:41
  Katherine: Um, and so it's, it is, it, it, it's, it's critically important, um, to be utilizing these broader technologies versus, um, single gene.
• 17:52
  Katherine: But those are big
• 17:53
  John: percentages of finding stuff.
• 17:55
  Katherine: Yeah, they, they are.
• 17:57
  Katherine: I mean, I, I think what's interesting, um, right now, um, in the outpatient setting, it's probably about 20 to 40% in the inpatient setting.
• 18:06
  Katherine: So if you think about in the nicu, um, and there there's various, I intensive the
• 18:12
  John: neonatal intensive care units.
• 18:13
  John: Yep,
• 18:14
  Katherine: exactly.
• 18:15
  Katherine: Exactly.
• 18:15
  Katherine: There's um.
• 18:17
  Katherine: There are in level three and level four NICUs, about 60% of babies actually, um, would benefit from this testing, but fewer than 5% actually get a genetic test.
• 18:30
  John: How can that be true?
• 18:31
  John: I mean, it basically, the clinicians just don't know.
• 18:36
  Katherine: Um, uh, part of it is access to a geneticist.
• 18:39
  Katherine: So as, as, as we talked about earlier, there's very few geneticists and, and their caseloads are, are really high.
• 18:46
  Katherine: Um, I think part of it is, is a lack of education.
• 18:50
  Katherine: So we're doing our part to educate neonatologists that, um, this is a test that they can order.
• 18:56
  Katherine: And then it is accessible to them.
• 18:59
  Katherine: We've generated research, um, actually with, um, with Seattle Children's, um, that, um, that demonstrated the, the, the, the data that showed that 60% of these babies would benefit from genetic testing.
• 19:13
  Katherine: Um, so we're, and
• 19:14
  John: so they get that genetic testing and what are, what, what happened, what follows?
• 19:19
  Katherine: Um, it can be, um, anything from, um, a surgical intervention.
• 19:25
  Katherine: Um, we actually were just involved, um, over the weekend with a, a baby who needed a, a heart transplant.
• 19:33
  Katherine: Um.
• 19:34
  Katherine: Uh, and we were able to, to play a role in, in, in finding a match for, for, for that baby.
• 19:40
  Katherine: Um, it can be, um, a clinical trial or an FDA approved therapy.
• 19:46
  Katherine: Um, and so there's any number of, of next steps that, that can be utilized.
• 19:51
  Katherine: Um, I think part of what's also interesting when we think about how many, um, how many people are impacted, we've actually done the largest newborn screening study.
• 20:02
  Katherine: Um, called the Guardian Study where we sequenced healthy newborns, um, and we were able to find in 3.2% of them that there was a clinically actionable finding.
• 20:15
  Katherine: Um, and so these are babies that would've gone on, um, to develop a symptom over time.
• 20:22
  Katherine: Um, and we were able to actually intervene early to say, you know, with a ketogenic diet or adding zinc to, um, to, to, as a supplement to, to this baby, um, you can actually prevent disease progression.
• 20:38
  John: Well, and, and dramatically changed probably the arc of that child's life.
• 20:42
  John: Um, 'cause you're, 'cause you're getting involved very early on in the developmental process.
• 20:47
  John: Maybe speak to the people have heard about, you know, genome sequencing.
• 20:53
  John: What is exome and when do you think about g fully exome versus genome and how is it relevant just to help the parents who might be listening or folks who might, might be thinking about it.
• 21:04
  John: Parents, like, what are we talking about here?
• 21:06
  John: Then, then what's the process to then act on that and, and get your, get your child profiled and then cared for?
• 21:14
  Katherine: Yeah, so an exome is just a precursor to a genome.
• 21:18
  Katherine: So by utilizing an exome, it was just, it, it's a, it's a very efficient way for, um, about 60% of, uh, of diseases that may be caused, um, by genetics.
• 21:31
  Katherine: Um, and exome has been a really cost effective approach to, to being able to, to get to an answer sooner for most of these families.
• 21:40
  Katherine: Um, but we've been able to make great advancements on the genome side of things and believe that, you know, in the future we're gonna be running genomes on everyone, um, whether it's at birth or, um, at the, the first, uh, concern about a, a health condition.
• 21:58
  Katherine: Um, but ultimately we view.
• 22:01
  Katherine: This technology is a way to shift healthcare from being reactive and diagnosing any genetic disease too late.
• 22:09
  Katherine: To getting to a place where we can have more of a proactive approach to healthcare, um, one that's more predictive.
• 22:16
  Katherine: Um, and so by, by generating this data earlier in all of our journeys, um, we wanna be able to put information that exists within you to work for you to help you stay healthier and live a longer life.
• 22:30
  Katherine: There's a lot of discussion.
• 22:32
  Katherine: Um, I would say more, um.
• 22:36
  Katherine: More geared towards, towards folks is adults about longevity.
• 22:41
  Katherine: Um, I'm a believer we, we all should be thinking about longevity and the best time to, to do that is actually when you're thinking about having a baby.
• 22:49
  Katherine: Um, how, how can we set this child up in the future to live the, the healthiest and longest lives?
• 22:55
  Katherine: So, um, we, we'd love to see a shift in our healthcare system from, um.
• 23:01
  Katherine: Any of us at any age waiting way too long to get an accurate diagnosis.
• 23:06
  Katherine: It's incredibly frustrating.
• 23:08
  Katherine: It's, it's, it, it, it's costly.
• 23:11
  Katherine: Um, it's inefficient.
• 23:13
  Katherine: Um, and that is true at any age.
• 23:16
  John: Well, but you're adv, but you're, you're also particularly given the target of pediatricians and
• 23:22
  Katherine: Yeah.
• 23:23
  John: Life at an early stage, it's when you can really set the program up to to, to work the best for the health of the child.
• 23:31
  John: But also you're talking about the constituencies that have the fewest advocates.
• 23:36
  John: That's
• 23:36
  Katherine: exactly right.
• 23:37
  John: Which are, which are infants.
• 23:38
  John: And I think what's exciting about what you're doing, Catherine, is you're, you're starting to deliver on the promise of personalized medicine where the, your own genetic signature and, uh, the idiosyncrasies of the bi your own biological structure are ones that we.
• 23:55
  John: Tailor the care, the drugs, the therapeutics to solve.
• 23:59
  John: I mean, if you can really get exome and genomic tests that can have relevant results for children and adults, we really can get to a level of personalized medicine to hopefully deliver the kinds of outcomes for.
• 24:13
  John: The vast category of diseases that are, that are currently considered rare, but we're identifying as all too common to one, two manageable diseases as opposed to death sentences like we've done with cystic fibrosis.
• 24:27
  John: It's super exciting.
• 24:28
  John: Catherine.
• 24:30
  Katherine: That you, you, you said it beautifully.
• 24:33
  Katherine: And, and we believe that that future of precision medicine that we've been talking about for decades, it's, it's actually happening today and it all starts with an accurate diagnosis.
• 24:44
  John: Well, that's it, Katherine.
• 24:46
  John: I think you, it's a perfect way to end there.
• 24:48
  John: So thank you for joining, um, for my subscribers.
• 24:52
  John: If you liked what you heard or you didn't, we'd love you to subscribe on your favorite service today.
• 24:58
  John: We've had the.
• 24:59
  John: Great opportunity to hear about not just the future of personalized medicine, genomics, sequencing, all the stuff that has been winning Nobel Prizes in getting headlines, but the practical application of precision medicine and genomics to saving lives today.
• 25:16
  John: Katherine, thanks so much for joining.
• 25:18
  Katherine: Thanks so much, John.
• 25:19
  Katherine: I appreciate it.