Well, you might recall a November Bloomberg Business Week cover story, Tim, remember this, it was about the company twenty three and me and how it's looking to use all the genetic information that collects and able to make and sell its own therapy. So, you know, the world of genetic testing and using it as a diagnostic tool continues to grow and to really create new therapies. Yeah, far cry at least for that company from the original premise right of
helping you identify where you're from. Well, this next guest has spent more than two decades in healthcare. She's president CEO of the genetic testing and genomic company. She's Katherine steulin Uh and, as I said, CEO of gene d X, and she's on the phone in Bethesda, Maryland. Catherine, so
nice to have you here with Tim and myself. You know, tell us a little bit about your company and what's going on when it comes to genomics and genetic testing being used to really develop therapies and improve the way we address healthcare. Certainly, and and I'm excited to share with you what I think is really a new era and her of delivering on the promise of the human genome project as well as UM something that we've been talking about quite a bit, which which is precision Medicine.
UM gen d X was fun out of the n i H twenty years ago and really was known as a company that was who doctors relied on to the hardest to diagnose patients. But over time, our scientists have been quietly pioneering the next generation of genetic testing that looks deeply at the totality of the human genome to be able to provide a faster diagnosis for patients and in turn be able, based on the results of our genetic tests, be able to tell you what therapeutics might
be able to help you get on a healthier path sooner. Well, help me understand where patients use this and at what point in their lives they use it, because up till now, and you know, I don't want to give away too much of my medical history. I'm talking on you know, national radio here, Uh, but my only encounter with genetic testing personally has has been when my wife got pregnant with our son, And I think that's where a lot of people first interact with it. When you know the
person who's pregnant and in the partner get tested. But that was it for me that that's true for so many people. UM. Right now, genetic testing is being used in that setting. UM. You know, frequently when a woman is thinking about having a baby or she's pregnant, and she will still do a test, she and her partner
will do a test called carrier screening. UM. But then what we're able to do on the other side, once there is hopefully a healthy baby, is be able to ensure that when there is a symptom um that that child may be displaying if God forbid, the babies in the neonates neonatal intense of care unit or as a toddler, UH, we're able to provide based on that baby's genome UM rapid information that helps get to a diagnosis, a definitive
diagnosis sooner, which is critically important when you're thinking about neurological conditions that could be impassing that child and then getting them on that treatment. UM. The other time that people are utilizing genetic information often is when they have a cancer diagnosis. So right now it really is being used UM in the symptomatic setting. UM. But genetic information can actually be used in a preventive way UM to be able to get ahead of UM developing symptoms and
being able to keep people healthy versus diagnosi disease. It's already in progress. So I think about things, you know, um, Katherine, that are just like diabetes, right, which is really we talk about pandemics, right, you know, it's really becoming a global pandemic in terms of the amount of people who have diet beats. How can we use genetic testing? How are we maybe already in terms of anticipating it or somehow getting better control of it, because it really just
seems like it's out of control. So genetic testing right now is really best utilized UM and and setting such as cardiovascular disease and oncology, and the pediatric setting for neurological disorders or autism UM, as well as as you mentioned earlier, in the prenatal setting when when we're trying to assess risk when it comes to a pregnancy for for more common conditions that are metabolic in nature, like diabetes.
There's still a lot of work that needs to be done from a technology standpoint to really help us better understand the specific role of genetics that might predisposite predispose somebody to to being uh, somebody who will have a more so beer condition. Um. So there's a lot of work going into that. You'll hear in the future more about something called polygenic risk risk scores, which is for
the broader um more common conditions like diabetes. UM. And I think that that's going to be on the horizon over the next five to ten years. We're still on the earlier stages for those sorts of conditions. Sit tight for a second. We've got to do a little bit
of news, Katherine, but we'll come back and continue. Really interesting and curious about the medical community, the health insurance company, how they are increasingly embracing, uh, this era area when it comes to its helpfulness in terms of figuring out healthcare or or possibilities. What were you think, hey, And one interesting thing is talking to friends about, you know, Matt, that age where a lot of our friends are getting pregnant or worse, are having the second kid. Uh. We
talked to some friends who had a second kid. They repeated the genetic testing again, even though they had done it ahead of time before their first baby. And they did that because the company had actually identified more genes in the two or three years since they had their previous baby. So you're it's just an acknowledgment of all the information that continues to come out. All right, we'll continue with Katherine Steulin. She is the CEO of gene d X, and we'll get to her once again in
just a moment. Let's get right back to Katherine Steulin, the CEO of gen d X. It's a medical genetics company. It's got the largest clinical X own data set in the world. Katherine, I want to talk more about the business here because I think when it comes to products such as yours, the customer isn't necessarily the end patient. The customer is the provider who is prescribing it or who is actually UM telling the patient that they should get it. How do you how does that, how does
that sales process work? And how do you get your
product more in the hands of more providers? So it's it's a really important partnership that we have with a provider a patient as well as with a payer UM and and we very much believe that it is the most responsible approach to be working UM in that partnership because we're delivering information that is actionable UM, meaning we're providing a genetic report that is saying whether or not somebody may have a health condition that they may need to,
you know, go undergo some sort of therapy for um or change another aspect of their life. So it's really important that we are working in partnership there. UM. The way that we work today is we we sell our testing directly to clinicians. Mainly this has been to medical geneticists, who are kind of the the experts expert when it comes to genetics, but we're seeing a broader group of clinicians. As we mentioned earlier, OBEs are using it in terms
of assessing risk for pregnancy. On cologists are using it to assess risk overall as well as what treatment might be best for a patient. So we're starting to see a shift from um the expert setting of medical geneticis us into broader mainstream medicine. And so we educate providers about our services and we work with them to ensure that they have all the tools that they need to inform their patient as clearly as possible. You know, let me ask you something, do you think all babies should
get genome sequencing? And and mind you, this is your business. Um, you know, I understand where you're coming from, but but do you think it's a smart strategy. So I think that there's a lot of nuance involved in in the question because ultimately, what we want to be able to do is UM have information on hand to be able to provide a rapid diagnosis as soon as somebody is
showing up with the symptom UM. And I can tell you if you look in the case of pediatric conditions UM right now, as it's utilized today, genetic testing can be used too late UM, meaning that there's damage being done to that child and they may not be eligible if they get a diagnosis too late for certain therapy.
So one of the keys to using genetic testing is having it on hand to be able to use it as rapidly as possible to rule in or rule out what they're not There is UM an underlying genetic conditions, so I think it's important that we all have access to that information. UM. There have been some cases where there have been studies where they've done sequencing at birth and just provided the parents with an entire litany of information that the parent doesn't need in that moment at all.
And that's not the way that we see this happening in the future. UM. What we see happening almost similar to to cord blood but being medically actionable here, UM is being able to sequence a baby at birth and just hold that information on behalf of the parents and the clinicians and individual and when there is information that they need, were able to come in and provide a definitive diagnosis or tell them there's not a genetic as
who you here and then they can quickly move on. Hey, Catherine Moore on the business, Uh, you recently announced that, uh, Semaphore was buying you guys. Semaphore is an AI driven genomic and clinical data intelligence platform company. You are going to service co CEO after the acquisition is complete. Why does this make sense? What are the you know, for lack of better term synergies here, So semaphoreg gen d X are completely complementary. Um, each of us is doing
something distinctly different. But UM, we have technologies that are going to accelerate the use of one another's technology. So in the case of Semaphore, they do carrier screening. UM, they have built a patient experience where they're able to connect with a mom to be And I'm sure that she has an understanding of what happens when she's doing
her carrier springs UM. Once the child is born, that's where gene d x is technology comes to bear and we're able again in the event that there is some sort of symptom that the child is showing, to be able to then provide a diagnosis. So we're able to essentially pick up where Semaphore leads off from the pregnate, from the pregnant mom to be to now a mom who has a child who needs an answer for her
her baby. UM. The other thing that we've done with our xome and our genome that is ultimately going to be the backbone for UM all of the testing that Semaphore does, so we're able to get a more comprehensive set of data that feeds their data engine called Centrellis that also takes a look at e m R data clinical note and is able to then ingest it and ensure that every patient that we're testing it's the most accurate information possible. Hey, Katherine, one last question. I kind
of want to end with where we started UM. We talked about a Bloomberg Business Week story that talked about the company twenty three and me how they are working on drug developments in house. They're using the genetic material that they're capturing from all of us. And I think one in five Americans have done one of these, whether it's ancestry or twenty three and me kind of tests.
Do you think this is a good idea? And just got about a minute or so about certainly, And I'm one of those people who have done twenty free me um and and and found twenty three and me kind
of scratches the surface of the genome. What we do at gen X is deep genomic sequencing, and it's the totality and richness of the genetic information that we provide that in working with pharma companies is going to actually be the key to being able to more rapidly discover new treatments, more rapidly bring new treatments to market, and make sure that we really bring the promise of precision
medicine to life. Well, it's certainly an interesting field. Katherine, thanks so much for carving out so much time for us. Katherine Stoutland, she is the CEO of gen d X, joining us on the phone from Maryland