WEBVTT - Using Genetics as a Tool for Disease Diagnosis

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<v Speaker 1>Well, you might recall a November Bloomberg Business Week cover story, Tim,

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<v Speaker 1>remember this, it was about the company twenty three and

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<v Speaker 1>me and how it's looking to use all the genetic

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<v Speaker 1>information that collects and able to make and sell its

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<v Speaker 1>own therapy. So, you know, the world of genetic testing

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<v Speaker 1>and using it as a diagnostic tool continues to grow

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<v Speaker 1>and to really create new therapies. Yeah, far cry at

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<v Speaker 1>least for that company from the original premise right of

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<v Speaker 1>helping you identify where you're from. Well, this next guest

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<v Speaker 1>has spent more than two decades in healthcare. She's president

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<v Speaker 1>CEO of the genetic testing and genomic company. She's Katherine

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<v Speaker 1>steulin Uh and, as I said, CEO of gene d X,

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<v Speaker 1>and she's on the phone in Bethesda, Maryland. Catherine, so

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<v Speaker 1>nice to have you here with Tim and myself. You know,

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<v Speaker 1>tell us a little bit about your company and what's

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<v Speaker 1>going on when it comes to genomics and genetic testing

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<v Speaker 1>being used to really develop therapies and improve the way

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<v Speaker 1>we address healthcare. Certainly, and and I'm excited to share

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<v Speaker 1>with you what I think is really a new era

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<v Speaker 1>and her of delivering on the promise of the human

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<v Speaker 1>genome project as well as UM something that we've been

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<v Speaker 1>talking about quite a bit, which which is precision Medicine.

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<v Speaker 1>UM gen d X was fun out of the n

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<v Speaker 1>i H twenty years ago and really was known as

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<v Speaker 1>a company that was who doctors relied on to the

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<v Speaker 1>hardest to diagnose patients. But over time, our scientists have

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<v Speaker 1>been quietly pioneering the next generation of genetic testing that

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<v Speaker 1>looks deeply at the totality of the human genome to

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<v Speaker 1>be able to provide a faster diagnosis for patients and

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<v Speaker 1>in turn be able, based on the results of our

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<v Speaker 1>genetic tests, be able to tell you what therapeutics might

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<v Speaker 1>be able to help you get on a healthier path sooner. Well,

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<v Speaker 1>help me understand where patients use this and at what

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<v Speaker 1>point in their lives they use it, because up till now,

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<v Speaker 1>and you know, I don't want to give away too

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<v Speaker 1>much of my medical history. I'm talking on you know,

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<v Speaker 1>national radio here, Uh, but my only encounter with genetic

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<v Speaker 1>testing personally has has been when my wife got pregnant

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<v Speaker 1>with our son, And I think that's where a lot

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<v Speaker 1>of people first interact with it. When you know the

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<v Speaker 1>person who's pregnant and in the partner get tested. But

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<v Speaker 1>that was it for me that that's true for so

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<v Speaker 1>many people. UM. Right now, genetic testing is being used

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<v Speaker 1>in that setting. UM. You know, frequently when a woman

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<v Speaker 1>is thinking about having a baby or she's pregnant, and

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<v Speaker 1>she will still do a test, she and her partner

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<v Speaker 1>will do a test called carrier screening. UM. But then

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<v Speaker 1>what we're able to do on the other side, once

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<v Speaker 1>there is hopefully a healthy baby, is be able to

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<v Speaker 1>ensure that when there is a symptom um that that

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<v Speaker 1>child may be displaying if God forbid, the babies in

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<v Speaker 1>the neonates neonatal intense of care unit or as a toddler, UH,

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<v Speaker 1>we're able to provide based on that baby's genome UM

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<v Speaker 1>rapid information that helps get to a diagnosis, a definitive

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<v Speaker 1>diagnosis sooner, which is critically important when you're thinking about

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<v Speaker 1>neurological conditions that could be impassing that child and then

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<v Speaker 1>getting them on that treatment. UM. The other time that

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<v Speaker 1>people are utilizing genetic information often is when they have

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<v Speaker 1>a cancer diagnosis. So right now it really is being

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<v Speaker 1>used UM in the symptomatic setting. UM. But genetic information

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<v Speaker 1>can actually be used in a preventive way UM to

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<v Speaker 1>be able to get ahead of UM developing symptoms and

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<v Speaker 1>being able to keep people healthy versus diagnosi disease. It's

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<v Speaker 1>already in progress. So I think about things, you know, um, Katherine,

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<v Speaker 1>that are just like diabetes, right, which is really we

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<v Speaker 1>talk about pandemics, right, you know, it's really becoming a

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<v Speaker 1>global pandemic in terms of the amount of people who

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<v Speaker 1>have diet beats. How can we use genetic testing? How

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<v Speaker 1>are we maybe already in terms of anticipating it or

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<v Speaker 1>somehow getting better control of it, because it really just

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<v Speaker 1>seems like it's out of control. So genetic testing right

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<v Speaker 1>now is really best utilized UM and and setting such

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<v Speaker 1>as cardiovascular disease and oncology, and the pediatric setting for

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<v Speaker 1>neurological disorders or autism UM, as well as as you

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<v Speaker 1>mentioned earlier, in the prenatal setting when when we're trying

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<v Speaker 1>to assess risk when it comes to a pregnancy for

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<v Speaker 1>for more common conditions that are metabolic in nature, like diabetes.

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<v Speaker 1>There's still a lot of work that needs to be

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<v Speaker 1>done from a technology standpoint to really help us better

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<v Speaker 1>understand the specific role of genetics that might predisposite predispose

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<v Speaker 1>somebody to to being uh, somebody who will have a

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<v Speaker 1>more so beer condition. Um. So there's a lot of

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<v Speaker 1>work going into that. You'll hear in the future more

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<v Speaker 1>about something called polygenic risk risk scores, which is for

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<v Speaker 1>the broader um more common conditions like diabetes. UM. And

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<v Speaker 1>I think that that's going to be on the horizon

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<v Speaker 1>over the next five to ten years. We're still on

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<v Speaker 1>the earlier stages for those sorts of conditions. Sit tight

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<v Speaker 1>for a second. We've got to do a little bit

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<v Speaker 1>of news, Katherine, but we'll come back and continue. Really

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<v Speaker 1>interesting and curious about the medical community, the health insurance company,

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<v Speaker 1>how they are increasingly embracing, uh, this era area when

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<v Speaker 1>it comes to its helpfulness in terms of figuring out

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<v Speaker 1>healthcare or or possibilities. What were you think, hey, And

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<v Speaker 1>one interesting thing is talking to friends about, you know, Matt,

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<v Speaker 1>that age where a lot of our friends are getting

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<v Speaker 1>pregnant or worse, are having the second kid. Uh. We

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<v Speaker 1>talked to some friends who had a second kid. They

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<v Speaker 1>repeated the genetic testing again, even though they had done

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<v Speaker 1>it ahead of time before their first baby. And they

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<v Speaker 1>did that because the company had actually identified more genes

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<v Speaker 1>in the two or three years since they had their

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<v Speaker 1>previous baby. So you're it's just an acknowledgment of all

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<v Speaker 1>the information that continues to come out. All right, we'll

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<v Speaker 1>continue with Katherine Steulin. She is the CEO of gene

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<v Speaker 1>d X, and we'll get to her once again in

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<v Speaker 1>just a moment. Let's get right back to Katherine Steulin,

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<v Speaker 1>the CEO of gen d X. It's a medical genetics company.

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<v Speaker 1>It's got the largest clinical X own data set in

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<v Speaker 1>the world. Katherine, I want to talk more about the

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<v Speaker 1>business here because I think when it comes to products

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<v Speaker 1>such as yours, the customer isn't necessarily the end patient.

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<v Speaker 1>The customer is the provider who is prescribing it or

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<v Speaker 1>who is actually UM telling the patient that they should

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<v Speaker 1>get it. How do you how does that, how does

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<v Speaker 1>that sales process work? And how do you get your

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<v Speaker 1>product more in the hands of more providers? So it's

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<v Speaker 1>it's a really important partnership that we have with a

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<v Speaker 1>provider a patient as well as with a payer UM

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<v Speaker 1>and and we very much believe that it is the

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<v Speaker 1>most responsible approach to be working UM in that partnership

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<v Speaker 1>because we're delivering information that is actionable UM, meaning we're

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<v Speaker 1>providing a genetic report that is saying whether or not

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<v Speaker 1>somebody may have a health condition that they may need to,

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<v Speaker 1>you know, go undergo some sort of therapy for um

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<v Speaker 1>or change another aspect of their life. So it's really

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<v Speaker 1>important that we are working in partnership there. UM. The

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<v Speaker 1>way that we work today is we we sell our

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<v Speaker 1>testing directly to clinicians. Mainly this has been to medical geneticists,

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<v Speaker 1>who are kind of the the experts expert when it

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<v Speaker 1>comes to genetics, but we're seeing a broader group of clinicians.

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<v Speaker 1>As we mentioned earlier, OBEs are using it in terms

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<v Speaker 1>of assessing risk for pregnancy. On cologists are using it

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<v Speaker 1>to assess risk overall as well as what treatment might

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<v Speaker 1>be best for a patient. So we're starting to see

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<v Speaker 1>a shift from um the expert setting of medical geneticis

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<v Speaker 1>us into broader mainstream medicine. And so we educate providers

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<v Speaker 1>about our services and we work with them to ensure

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<v Speaker 1>that they have all the tools that they need to

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<v Speaker 1>inform their patient as clearly as possible. You know, let

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<v Speaker 1>me ask you something, do you think all babies should

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<v Speaker 1>get genome sequencing? And and mind you, this is your business. Um,

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<v Speaker 1>you know, I understand where you're coming from, but but

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<v Speaker 1>do you think it's a smart strategy. So I think

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<v Speaker 1>that there's a lot of nuance involved in in the

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<v Speaker 1>question because ultimately, what we want to be able to

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<v Speaker 1>do is UM have information on hand to be able

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<v Speaker 1>to provide a rapid diagnosis as soon as somebody is

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<v Speaker 1>showing up with the symptom UM. And I can tell

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<v Speaker 1>you if you look in the case of pediatric conditions

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<v Speaker 1>UM right now, as it's utilized today, genetic testing can

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<v Speaker 1>be used too late UM, meaning that there's damage being

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<v Speaker 1>done to that child and they may not be eligible

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<v Speaker 1>if they get a diagnosis too late for certain therapy.

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<v Speaker 1>So one of the keys to using genetic testing is

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<v Speaker 1>having it on hand to be able to use it

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<v Speaker 1>as rapidly as possible to rule in or rule out

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<v Speaker 1>what they're not There is UM an underlying genetic conditions,

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<v Speaker 1>so I think it's important that we all have access

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<v Speaker 1>to that information. UM. There have been some cases where

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<v Speaker 1>there have been studies where they've done sequencing at birth

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<v Speaker 1>and just provided the parents with an entire litany of

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<v Speaker 1>information that the parent doesn't need in that moment at all.

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<v Speaker 1>And that's not the way that we see this happening

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<v Speaker 1>in the future. UM. What we see happening almost similar

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<v Speaker 1>to to cord blood but being medically actionable here, UM

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<v Speaker 1>is being able to sequence a baby at birth and

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<v Speaker 1>just hold that information on behalf of the parents and

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<v Speaker 1>the clinicians and individual and when there is information that

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<v Speaker 1>they need, were able to come in and provide a

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<v Speaker 1>definitive diagnosis or tell them there's not a genetic as

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<v Speaker 1>who you here and then they can quickly move on. Hey,

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<v Speaker 1>Catherine Moore on the business, Uh, you recently announced that, uh,

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<v Speaker 1>Semaphore was buying you guys. Semaphore is an AI driven

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<v Speaker 1>genomic and clinical data intelligence platform company. You are going

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<v Speaker 1>to service co CEO after the acquisition is complete. Why

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<v Speaker 1>does this make sense? What are the you know, for

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<v Speaker 1>lack of better term synergies here, So semaphoreg gen d

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<v Speaker 1>X are completely complementary. Um, each of us is doing

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<v Speaker 1>something distinctly different. But UM, we have technologies that are

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<v Speaker 1>going to accelerate the use of one another's technology. So

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<v Speaker 1>in the case of Semaphore, they do carrier screening. UM,

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<v Speaker 1>they have built a patient experience where they're able to

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<v Speaker 1>connect with a mom to be And I'm sure that

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<v Speaker 1>she has an understanding of what happens when she's doing

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<v Speaker 1>her carrier springs UM. Once the child is born, that's

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<v Speaker 1>where gene d x is technology comes to bear and

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<v Speaker 1>we're able again in the event that there is some

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<v Speaker 1>sort of symptom that the child is showing, to be

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<v Speaker 1>able to then provide a diagnosis. So we're able to

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<v Speaker 1>essentially pick up where Semaphore leads off from the pregnate,

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<v Speaker 1>from the pregnant mom to be to now a mom

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<v Speaker 1>who has a child who needs an answer for her

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<v Speaker 1>her baby. UM. The other thing that we've done with

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<v Speaker 1>our xome and our genome that is ultimately going to

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<v Speaker 1>be the backbone for UM all of the testing that

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<v Speaker 1>Semaphore does, so we're able to get a more comprehensive

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<v Speaker 1>set of data that feeds their data engine called Centrellis

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<v Speaker 1>that also takes a look at e m R data

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<v Speaker 1>clinical note and is able to then ingest it and

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<v Speaker 1>ensure that every patient that we're testing it's the most

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<v Speaker 1>accurate information possible. Hey, Katherine, one last question. I kind

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<v Speaker 1>of want to end with where we started UM. We

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<v Speaker 1>talked about a Bloomberg Business Week story that talked about

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<v Speaker 1>the company twenty three and me how they are working

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<v Speaker 1>on drug developments in house. They're using the genetic material

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<v Speaker 1>that they're capturing from all of us. And I think

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<v Speaker 1>one in five Americans have done one of these, whether

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<v Speaker 1>it's ancestry or twenty three and me kind of tests.

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<v Speaker 1>Do you think this is a good idea? And just

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<v Speaker 1>got about a minute or so about certainly, And I'm

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<v Speaker 1>one of those people who have done twenty free me

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<v Speaker 1>um and and and found twenty three and me kind

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<v Speaker 1>of scratches the surface of the genome. What we do

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<v Speaker 1>at gen X is deep genomic sequencing, and it's the

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<v Speaker 1>totality and richness of the genetic information that we provide

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<v Speaker 1>that in working with pharma companies is going to actually

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<v Speaker 1>be the key to being able to more rapidly discover

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<v Speaker 1>new treatments, more rapidly bring new treatments to market, and

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<v Speaker 1>make sure that we really bring the promise of precision

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<v Speaker 1>medicine to life. Well, it's certainly an interesting field. Katherine,

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<v Speaker 1>thanks so much for carving out so much time for us.

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<v Speaker 1>Katherine Stoutland, she is the CEO of gen d X,

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<v Speaker 1>joining us on the phone from Maryland