GeneDx at Goldman Sachs Conference: Strategic Focus on Rare Disease Diagnostics

Published 09/06/2025, 22:04
GeneDx at Goldman Sachs Conference: Strategic Focus on Rare Disease Diagnostics

On Monday, 09 June 2025, GeneDx Holdings Corp (NASDAQ:WGS) presented its strategic initiatives at the Goldman Sachs 46th Annual Global Healthcare Conference. The company highlighted its focus on expanding its market share in rare disease diagnostics, particularly in pediatric and NICU settings, while addressing reimbursement challenges and cost efficiencies. Despite a strong position among expert geneticists, GeneDx faces hurdles in broader market penetration.

Key Takeaways

  • GeneDx holds an 80% market share among expert geneticists.
  • The company aims to increase genetic testing rates in NICUs, currently below 5%.
  • Efforts are underway to improve reimbursement rates and reduce denial rates.
  • Automation and AI are key to reducing costs per test.
  • GeneDx plans to expand into adult markets as reimbursement pathways improve.

Financial Results

  • GeneDx is committed to profitable growth with a gross margin of around 80% for exome and genome testing.
  • The company is working to improve reimbursement rates by lowering the current denial rate, which is in the mid-40s.
  • Medicaid covers 45% of their volume, with services available in 35 states.
  • Cost reduction efforts focus on lab automation and AI, aiming for improved gross margins.
  • Investment in a brand campaign is underway to enhance awareness.

Operational Updates

  • GeneDx launched a brand campaign to increase awareness of its diagnostic services.
  • The company introduced a two-day turnaround time for whole genome sequencing in NICUs.
  • New call points include pediatric neurology and immunologists.
  • GeneDx ceased outreach to expert geneticists in Q2 2023, focusing on other markets.

Future Outlook

  • GeneDx plans to expand its market to include adult segments as reimbursement pathways develop.
  • The company aims to increase genetic testing in NICUs, targeting 225,000 tests annually.
  • They seek to leverage their data assets for collaborations with biopharma to accelerate drug discovery.
  • GeneDx emphasizes the importance of early diagnosis for therapeutic and supportive interventions.

Q&A Highlights

  • GeneDx has diagnosed more children with rare diseases than any other lab, leveraging its extensive data assets.
  • The company’s competitive advantage lies in its robust data set of 800,000 exomes and genomes.
  • GeneDx aims to benefit a quarter million children annually with rapid genome sequencing in NICUs.
  • The company recognizes the need for updated genetic testing guidelines, last revised by the American Academy of Pediatrics in 2014.

For further details, readers are encouraged to refer to the full transcript.

Full transcript - Goldman Sachs 46th Annual Global Healthcare Conference:

Matt Sykes, Life Science Tools and Diagnostics Analyst, Goldman Sachs: afternoon, everyone. My name is Matt Sykes, Life Science Tools and Diagnostics Analyst at Goldman Sachs. And I have the pleasure of welcoming Kathryn Stuhlen and Kevin Feeley, CEO and President and CFO of GeneDx. Kathryn, Kevin, thank you.

Kathryn Stuhlen, CEO, GeneDx: Thank you so much for having Thank you.

Matt Sykes, Life Science Tools and Diagnostics Analyst, Goldman Sachs: Really appreciate you guys being here. Maybe if we just kind of start off for the benefit of everybody, just give us an overview of the business today and kind of touch on some of the strategic initiatives that you guys are focused on.

Kathryn Stuhlen, CEO, GeneDx: Certainly. So GeneDx was actually formed twenty five years ago at the National Institutes of Health. And the team really became renowned for being able to diagnose the hardest to diagnose patients. Over the past four years, we’ve really been focused on driving utilization of our exome testing and our genome testing. And what we’ve been able to amass over the past decade or so is the largest rare disease data asset that exists in The United States.

So we’ve diagnosed more children with rare diseases than any other lab. And it really comes down to the underlying data asset that is informing every single patient that we’re able to analyze. That data asset is comprised of over 800,000 exomes and genomes, all enriched for rare disease, and is complemented by a phenotypic data asset of more than 6,100,000 phenotypic data points. And it’s the combination of those two data assets together that sets us apart in terms of our ability to drive a more definitive diagnosis for more patients. So we’ve been focused on solving what today is still a five year diagnostic odyssey, which we can solve within a matter of weeks, if not hours now.

And so as we think about this year and beyond, we’re driving utilization in the pediatric outpatient setting. And we’re starting to drive utilization more meaningfully in the NICU setting as well.

Matt Sykes, Life Science Tools and Diagnostics Analyst, Goldman Sachs: Got it. And then maybe just as a follow-up to that. And we actually still get this question a lot from investors. What makes GeneDx test so differentiated? And kind of what has created your market leading position up to this point?

Kathryn Stuhlen, CEO, GeneDx: So there’s really two things that have set us apart, and then I’ll add a for our future. So our data assets, as I mentioned, it’s comprised of more than 800,000 exomes and genomes, all enriched for rare disease. 60% of the time, we’re running mom and dad as well. And we started investing in Medicaid populations before there’s been Medicaid coverage. So we have a database that is highly representative population, which is really unique in the genomic space.

As I mentioned, the more than 6,000,000 phenotypic data points are all of the clinic notes that we get that give us insights in terms of symptoms, of family history, and other relevant medical information. And it’s the combination of that that informs our expert geneticists on whether or not they can upgrade or downgrade a variant of unknown significance. They want to get to about a 90% confidence interval before they’re upgrading or downgrading, which then ensures that our test is even more conclusive and more accurate for the next patient that we’re actually sequencing and interpreting. So it’s a virtuous cycle of product improvement data assets. So that has been, at the core, what sets us apart.

It’s the reason why an exome is not an exome. A genome is not a genome. There are other exomes and genomes on the market. But without that underlying data asset, it’s a less conclusive and therefore less reliable answer that clinicians are getting. And that’s why eight out of 10 geneticists rely on us for an exome or a genome.

So the robustness of our data asset is a really important reason why you can’t just buy a sequencer and start running exomes and genomes. You’d have to actually recreate the breadth and depth of that unique data asset. The piece that sets us apart is the scale that we’ve built. So in addition to having the most accurate test out there, we also can run testing faster and more cost effectively, which means that if it is in the NICU, we were able to make a significant product improvement, where now we can run a test and interpret a whole genome for a baby in the NICU in forty eight hours. So it’s that scale that we’ve been able to build that also contributes to our strength.

That scale also contributes to our ability to lower our cost of goods, which then enables higher gross margins, which means we can really start investing back in even more scale. So scale is the pillar. I would say the part, as we think about the future, our commercial might and muscle. So we have built what we believe is a best in class commercial team with our sales team, complemented by medical science liaisons. And just last week, we launched a brand campaign to really start raising awareness of GeneDx and the benefit that we’re providing to more and more families to put an end to that diagnostic odyssey.

Matt Sykes, Life Science Tools and Diagnostics Analyst, Goldman Sachs: Got it. One of the things that I was so impressed with a few years ago is when you have a number of different potential end markets to go into. You have expert geneticists, ped neuro, NICU, general pediatricians. I think you realized very early on that you were only getting paid by some of those cohorts and therefore you shifted your commercial attention to where you were getting paid. Which sounds very simple, was actually contrary to what a lot of your peers were doing which got them into trouble.

Now that you’ve actually established some pretty nice market share and penetration in these markets, I’d love to kind of get a mark to market on sort of what your penetration and market share is in expert geneticists, where I think it’s the highest, ped neuro, NICU is new, but then general pediatricians. Maybe just help everyone understand where you are in each of those markets and I guess how those S curves kind of stack up so that you can keep driving growth momentum as you move through those markets.

Kathryn Stuhlen, CEO, GeneDx: You’re absolutely right. The starting point for us and where we historically have enjoyed the support of clinicians has been an expert geneticist. So if you’re a geneticist, you typically know who GeneDx is. Most other clinicians have not known who GeneDx was. And we have about 80% market share in those expert geneticists.

And we want to continue to make sure that we have a predominant market share because they’re an important ambassador for other clinician types moving forward. Part of the problem is there’s about a nine to eighteen month wait time to get to see a geneticist. So if you think about that five year diagnostic odyssey, what’s typically happening is a family is going in to see a general pediatrician. They get referred out to a specialist. The specialist may run some tests, and then they would historically be referred out to a geneticist.

So that nine to eighteen month wait time contributes to that five year diagnostic odyssey. By driving utilization earlier on into that specialist setting so the pediatric neurologist we’re only about fourteen percent penetrated into the patient population that a ped neurologist is seeing. So we still have a lot of room to continue to grow in that segment, diagnosing epilepsy, developmental delay, autism. And now we’ve started moving into cerebral palsy as well. So we’ll continue to find additional symptoms and use cases and indications in that pediatric neurology setting, because we’re only about fourteen percent penetrated.

As we think about the general pediatrician setting, our team’s not spending time there. You’re absolutely right. That’s an area where there is not sufficient reimbursement. And we want to continue to ensure that as we drive volumes, we can get paid for those services, not an unreasonable ask. And part of what has enabled us to reach profitability last year.

So we’re committed to profitable growth, which is part of the reason why the general pediatrician has not been a focus for us. But strategically, we do want to get there once AAP guidelines, which are more than a decade out of date, and once we can feel confident that there’s a clear path to reimbursement, we’ll move there in the future. As we think about the NICU setting, it’s a really interesting dynamic. Fewer than five percent of babies in a NICU actually get a genetic test. Yet we’ve been able to publish data that shows that sixty percent of babies in a level four NICU would benefit from that test.

So of the 800 or so level three or level four NICUs, about 20% of them are customers today. Yet they’re only using, I would say, a smattering of testing. We want to drive broader utilization in those settings.

Matt Sykes, Life Science Tools and Diagnostics Analyst, Goldman Sachs: Got it. And then could you help us sort of you size sort of the penetration. Can you size the NICU opportunity in general? And how quickly can you drive penetration in that setting? Like how should we think about pacing in this segment?

Kevin Feeley, President and CFO, GeneDx: Yeah. So there’s 800 level three and level four NICUs in The US. They’re 800 approximately. We would only target level three and level four NICUs. The level one and level two is where you would typically end up with premature birth, low birth weight, or some physical abnormality.

There’s about four hundred and fifty thousand babies that go through those level three and level four NICUs. And we’ve always assumed about fifty percent of those babies would have a meaningful change of care with intervention of a rapid genome. We published a definitive study, peer reviewed study in February called Seek That was in partnership with Seattle Children’s and University of Washington, which laid out inclusion and exclusion criteria and demonstrated that sixty percent of level four babies had a meaningful change of care. And so that would say there’s roughly a quarter 225,000 tests a year that should be run-in the NICU. Today, than five percent of all babies in the NICU are getting any genetic test.

If you look at GDX over twenty years, we’ve developed entrenched relationships with every expert geneticist around the globe and many children’s hospitals. About twenty percent of those NICUs are existing GeneDx clients, but have been reserving exome and genome just for their most complex cases. And it’s building on that seek data. It’s implementing a more seamless ordering process through Epic Aura. It’s recently launching a two day ultra rapid turnaround time for that old genome.

And then it’s a whole new subset of health economic data that we’ve armed the commercial team that tells us we’ve now built the foundational pieces to begin to open up that NICU market. And so it will be a core part of our growth strategy, not just the half of this year, but into ’twenty six and into ’twenty seven as ultimately we get to what we think is a quarter million children a year that would benefit from a rabbit genome in the NICU.

Matt Sykes, Life Science Tools and Diagnostics Analyst, Goldman Sachs: And just given the I know you just recently launched it in April. But any sort of feedback on initial uptake for the ultra rapid, the forty eight hour turnaround time test?

Kevin Feeley, President and CFO, GeneDx: Yes. It’s early. I’d say the ultra rapid became orderable in April, but really is part of a suite of enhancements around the experience. So that two day turnaround time, but then also coupled with Epic Aura and other features that we launched. So it’s very early days.

But through two months of experience, it’s tracking to where we expect it to be. Ultimately, in the near term, see a place in the market for both the two day and the five day turnaround time products that we have. There are very different price points. We believe the clinical and economic argument is even more compelling for the two days. But it’s going to take time for us to get in front of hospital administrators in the C suite to bring them through that health economic data using their hospital’s data.

And we’ve now put the commercial team to have that tool available. And so more to come on where we think ultimately the mix will land. But do see a place in the market for both that five day and two day price point.

Matt Sykes, Life Science Tools and Diagnostics Analyst, Goldman Sachs: Got it. And you’re adding some additional indications this year in the specialist space. So cerebral palsy, you mentioned hearing loss and a couple of other indications. Like how would you characterize those opportunities going forward?

Kathryn Stuhlen, CEO, GeneDx: So the thing that we always look at when analyzing what additional patient populations focus on, what is the best test from a clinical outcomes perspective? Part of the limitation with multi gene panels, by default, they’re only looking at a subset of genes. If you think about any number of these indications cerebral palsy, there’s 300 genes associated with it. Autism, there’s 800 genes. Epilepsy, there’s seven sixty eight genes.

By utilizing a multi gene panel, you’re just leaving so many genes, and therefore patients, behind with inconclusive results. So we look at, is an exome or a genome the best test for clinical outcomes. And then we take a look at whether or not there is a path for reimbursement. And that is both from a commercial and Medicaid perspective. But I would say the additional factor factor that we contemplate is, are there clinical trials?

Are there new FDA approved therapies? So the actionability of the information is something else factors that we think about when we think about additional indications. We have a robust pipeline of additional indications that we will be rolling out in time. The goal with more than 10,000 rare diseases that we know of today and with new gene disease discoveries, as we’re opening up access, we’re actually finding that the prevalence of these diseases is actually quite higher than what was anticipated. So the real industrial wisdom of looking at a genome’s worth of information and opening up access is helping us contribute to a broader understanding of the true prevalence of disease.

And so we were never intending to be an epilepsy company. We were intending to be able to and are intending to diagnose any genetic disease as early as possible. But ensuring, to your earlier point about opening up access to more and more patients and ensuring that we can get paid for those services, you’re always going to hear us talk in hand about volume and about our ability to improve our average reimbursement rate. So investors have our commitment to that moving forward as we think about additional indications in the future.

Kevin Feeley, President and CFO, GeneDx: And it was just the second quarter of twenty twenty three that for the time, GeneDx stepped out of calling on expert geneticists. There’s about 2,000 of those in the country. And into the of what will be many additional call points, that being pediatric neurologists. And there’s about two thousand of those. So we touched on cerebral palsy.

That’s a new indication that will be focused on commercially at that same call point of ped neuro. That’s about two years old now. So a lot of excitement about bringing something new to that relationship with the ped neuro. But at the same time, April for the time selected the next of what will be additional call points. And so the pediatric immunologists, a new call point altogether in April.

And there’s about 600 pediatric immunologists in The US. I think it should be an indication that over time we will be stepping into additional call points. But this is really the one in two years that we expect to be able to report back on later on this year and into ’twenty six on what the uptake is. But a lot of excitement across our commercial team about having a new cohort of doctor altogether to speak to.

Matt Sykes, Life Science Tools and Diagnostics Analyst, Goldman Sachs: One of the things I’ve been thinking, well one, the more and more people hear from you when I talk to you realize that rare disease is actually not that rare. And two, one of the positive things coming out of the new administration as it relates to Vinay Prasad at CBER and the FDA is that they seem to really want to accelerate rare disease drug development. And you and I have talked in the past about many of these diseases you may find are not druggable. And therefore, is that actually a hindrance to doctors prescribing the test if there’s nothing they can do about it? Maybe so, maybe not.

But do you see that as a tailwind? If we get more accelerated approval of rare disease drugs, should that spur more testing? Or is the connectivity between those two things fairly loose?

Kathryn Stuhlen, CEO, GeneDx: So absolutely. And I think the frameworks that we’re hearing and I’ve worked on several FDA approvals of rare disease therapeutics. They echo what clinicians would say. They echo what parents would say, which is ensuring that you keep safety standards high and that there’s flexibility on efficacy. There’s a lot of really important and, I think, well rounded conversations on this topic.

So without a doubt, a focus on rare diseases can only be helpful to us in our quest to be able to diagnose more children as early as possible. So yes, it is helpful. Would say it’s also really important and I talk to parents of children with rare diseases often. Last week, had two conversations. I do think we need to change the conversation about actionability, because yes, there’s drug ability.

So FDA is helpful. Clinical trials are helpful. But there’s a lot of really important action that can be taken with a diagnosis. And it can be physical therapy. It can be occupational therapy.

It can be speech therapy. It can be sharing best practices as a child is transitioning from preschool into elementary school, parent to parent interactions that help support one another. And so as we continue to uncover exactly what the burden is on these families economically, from a clinical perspective, obviously, but then also in terms of the psychosocial impact for these families. There’s so much more that can be done. And I have yet to hear of a parent say they wish they hadn’t had the diagnosis.

While devastating, it provides so much clarity. And it provides actionability in more ways than what most providers, I think, really fully appreciate.

Kevin Feeley, President and CFO, GeneDx: And having the diagnosis also can lead to actionability in that it can stop the action of the prolonged odyssey in search for an answer, which is putting families in a mountain of medical debt. And it’s exacerbating inefficient health care spends across the country. And so, to Catherine’s point, we need to change the definition of actionability. And also realize that finding a diagnosis can put an end to using less efficient effective technologies to search for an answer. And that’s exacerbating health care spend.

That is just unnecessary. And that a genome approach really can aid towards health care cost efficiencies in this country.

Matt Sykes, Life Science Tools and Diagnostics Analyst, Goldman Sachs: Kevin, you, you’ve driven exome and genome testing to 40% of your overall test mix. Are you still seeing the same rate of success in converting panels over to exome? And should we still be looking for that sort of 200 to 300 basis point improvement in mix every quarter? Is that the right way to think about it still?

Kevin Feeley, President and CFO, GeneDx: Yes, I think so. We’re with 40% of all tests produced in the first quarter, nowhere near what we think is the ultimate end state, which is all hereditary disease diagnosis being on a whole exome, whole genome backbone. So we will get there. Obviously, in that mix share, we’ve taken some unilateral actions to turn off and reduce SKUs where we saw individual gene tests or multi gene panels that are not serving physicians and patients well and not good for our business. But at the same time, we’ll expect to see a continued evolution of mix share pickup by exome and genome replacing what is a generation of legacy multi gene panels that frankly should not be run anymore.

The pace of that change, I think, important than it had been in the past for our business. Because we’ve now retired about 70% of our test menu, going through a filtering process to say what’s the best test for patients and physicians. And what are the unit economics for our business such that every test left on our menu has passed through a filtering criteria. And it’s there for a reason. The reason is it’s either favorable unit economics, so it’s good business.

Or we see them as near term candidates to one day convert to exome and genome, such that what’s left on the menu, we’re comfortable being on the menu. And therefore, that pace of pickup, it may ebb and flow from one quarter to the next. But ultimately, see the entirety of our menu moving towards a whole genome.

Matt Sykes, Life Science Tools and Diagnostics Analyst, Goldman Sachs: Got it. And then looking to ASPs, last quarter you mentioned you currently have a denial rate in the mid-40s. How much room left for improvement is there? And what strategies are you still using to work down no pays?

Kevin Feeley, President and CFO, GeneDx: I mean, ultimately, we think a theoretical max is something like a payment rate of 75%, 80% of the time. We’re still facing a dynamic on all insurance based claims being paid roughly half of the time. So the gap there is still significant go get for us to reduce denials, have that be accretive to average reimbursement rates. All of that improvement would effectively fall to the bottom line. It’s easier said than done.

But over the past two years, we’ve made radical improvements in our ability to reduce denials. Go back to when we introduced pediatric neurologists as a call point. We were being denied about 65 of the time. And we’ve now been able to reduce that to less than 50% of the time. So that’s led to material improvements in reimbursement rates, gross margin, and operating profit for the company.

And while we’re very proud of that work to improve that payment and denial rate, it’s nowhere near optimized if you think the theoretical max is something like 75%, 80% of the time. We’ll get there really in two ways. If you look at the Medicaid portion of our business, that’s 45% of all volume running through Medicaid plans. We service all 50 states. Up until this morning, there were only 33 states that covered exome and genome.

But we’re servicing all 50 states knowing we’re going to take zeros. See those denials. Ultimately, do we think all 50 states cover the test? Absolutely. I started with the company eight years ago and it was zero.

And so a lot of progress has been made, but still a lot more to come. And excited to announce this morning two new states picked up policy coverage for exome and genome. So the 33 outpatient will now become 35. Those were volumes that we were already servicing. And the only difference now being we’ll get paid for those volumes.

So we’ll continually see, I think, improvements in denials on the Medicaid front. What’s super encouraging is in those 33 states with policy coverage, we are seeing something close to an 80% payment rate. So pretty clear rules to follow with respect to medical necessity and documentation requirements. And none of what you see in terms of ancillary procedural denials that you see in the commercial front. And then on the commercial payers, about 45 of all volume been able to reduce denials by taking a payer by payer approach.

The technology not yet mature where there’s a one size fits all policy with respect to medical necessity, documentation, and procedural processes to follow. And so over the past two years, have been working to customize payer by payer to adhere to their rules. And that work will continue. All to say, we think there’s still massive room to reduce denials and improve average reimbursement.

Matt Sykes, Life Science Tools and Diagnostics Analyst, Goldman Sachs: And then on the cost per test, you’ve continued to bring those down. How much room is left on that front? And if you combine that with ASP improvements that we’re just discussing, kind of where does that lead you to a longer term gross margin target? Yeah, Exome

Kevin Feeley, President and CFO, GeneDx: and Genome today operating at around 80% gross margin. We talked we believe there’s room to improve average reimbursement rate. While at the same time, over the past two years, we’ve made meaningful progress in reducing cost per test. The majority of the cost reductions over the trailing twenty four months have been on the, what I’ll call the wet side of the lab. So full scale robotics, automation, process design, input cost reductions.

The large manufacturers are now seeing a strong amount of competition. And so we’re benefiting from that as well as the rest of the industry. Anything that makes sequencing costs and sequencing speed come down is a net favorable to our business. But I think where we’re more excited to further reduce cost per test. And it’s very much in our ability to do so is in what I’ll call the dry side of the laboratory.

So it still represents about a of all cost, production cost is in steps around variance analysis, interpretation, curating and documenting medical records, and then writing the report itself. Today are likely done more efficiently than any other lab given our size and scale and the interpretation platform. But 100% of the samples we report out today are touched by humans. And they’re fairly expensive, scarce humans at that. We’d like to get to a point where we can automate a large portion of those dry side steps.

Certainly is in our ability to do that. We believe firmly that there should always be a human portion of our diagnostic processes. So we’re very much committed to ensuring that. But at the same time, there are many steps performed by that group of geneticists and genetic counselors on staff today that could be more fully automated. And absolutely believe in the next couple of years we’ll be able to deliver on meaningful cost reductions on a per test basis by driving language models, AI.

The recent acquisition of Fabric will help us accelerate what was always a long term roadmap to automate many of those steps. We were very impressed with their technology and ability to automate many of those dry side steps. And now we’re going through the process of comparing our homegrown platform with fabrics to come out with the best of both worlds in that regard.

Matt Sykes, Life Science Tools and Diagnostics Analyst, Goldman Sachs: Just on last question on OpEx for SG and A. What investments do you still need to make in the commercial teams as you kind of continue to grow volumes and expand your call points? I mean, you talked about additional call points. Is that additional salespeople? Or can you flex people back and or have them do more than one call point?

Kevin Feeley, President and CFO, GeneDx: The team’s optimized. So the new call point of immunologists by itself does not necessitate the need to expand commercial team. I think the commercial team and spend really at a healthy spot right now at a point to be highly leverageable. We’re continually deploying technology that builds in embedded capacity for sales team to spend more time hunting rather than servicing accounts. And so that will unlock capacity without having to add headcount.

The one caveat there would be if and when the American Academy of Pediatrics, AAP, changes their guidelines. They last wrote their genetic testing guidelines in 2014. So they’re 11 years old. When those guidelines change, it will have us target what is close to 60,000 pediatricians in The US. That would take an expansion of the sales team that you would notice.

And I think we’ve got all the plans in place for if and when AAP ever changes their guidelines. But until then, feel like the SG and A spend, by and large, plus or minus a couple million dollars each quarter, is fairly well optimized and ready to be leveraged. Excited to announce we did invest in an overall brand campaign that just launched last week, really to drive brand awareness towards the problem we’re trying to solve, which is the unmet need of kids around the country who are not getting fast enough access to the testing that we can provide in order to help them alleviate their symptoms and get the care they need. So not overly expensive, but an example of some incremental investments we’re making into sales and marketing. But you should continue to see us drive revenue and see the percentage of SG and A decline over time as the revenue growth far outpaces the need to invest incremental dollars into SG

Matt Sykes, Life Science Tools and Diagnostics Analyst, Goldman Sachs: I mean, Katherine, we talked a lot about the pediatric segment, where you guys are focused now. But just talk a little bit about the adult opportunity in terms of size, in terms of what’s your timeline for really kind of focusing on that market?

Kathryn Stuhlen, CEO, GeneDx: Certainly. I mean, think what is encouraging, we’re seeing investments on the therapeutic side of things. And companies that are focused on cardiogenetics, on therapeutics for adult neurodegenerative conditions like Parkinson’s and Alzheimer’s, which there have been just tremendous failures in that space. And earlier genetic diagnosis is going to help in those settings as well. And so as we think about moving into that space, we do need to wait for reimbursement pathways to be there.

And or we need to be partnering with some of these companies that helps us. It’s a bit of a chicken and the egg dilemma. If we can generate the data with pharma companies to be able to go to payers to make the case for why they should be covering testing, that would be super interesting to us. But ultimately, GeneDx is not intended to be an epilepsy company, a pediatric company. We want to diagnose anyone as early as possible, including a future of being able to do whole genome screening at birth to be able to inform a diagnosis at that very earliest point.

Matt Sykes, Life Science Tools and Diagnostics Analyst, Goldman Sachs: And then in the time we have left, let’s just talk a little bit more about the data business. And so you’ve done the right thing, in my opinion, by focusing on making sure you make money in diagnostics before you become a data company. But you do have this And you mentioned the $800,000 and you’ve got a very robust data set. What is your strategy to try to monetize or at least use that data for biopharma and make sure that that’s actually a viable business for you?

Kathryn Stuhlen, CEO, GeneDx: You’re right. The strategy today is to be a really good diagnostics business and to drive earlier diagnosis. The data that we amassed we were at 270,000 exomes and genomes just four years ago. So the fact that we’ve accelerated that data moat, expanded that data moat, is tremendous as a competitive advantage. It helps us with every interpretation.

But then being able to take a data asset and again, all of our testing is clinically actionable to be able to put it to work for ultimately patients to deliver on precision medicine and not just a diagnosis, but a gene therapy to be able to inform gene editing, we’d love to be able to be an important contributor in that space as well. You look at other models that exist, whether it’s Regeneron utilizing their genome center and all of the data there to inform their own drug discovery and development, no other company should have to develop their own genome center. That’s what GeneDx ultimately is. And we’re going to continue to be an engine for earlier diagnosis, but also for the most robust data set that is clinically actionable in order to really inform an earlier target discovery and faster clinical trial development, ultimately to get to more options for patients. But that’s where we want to really put that data asset to work to be able to change the trajectory of those FDA approvals.

Matt Sykes, Life Science Tools and Diagnostics Analyst, Goldman Sachs: Great. With that, right on time. We’re out of time. But thank you very much, Kathryn and Kevin. I really appreciate it.

Kathryn Stuhlen, CEO, GeneDx: Thank you much. Appreciate it.

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