GeneDx at Jefferies Global Healthcare: Driving Growth in Rare Disease Testing

On Wednesday, 04 June 2025, GeneDx Holdings Corp (NASDAQ:WGS) presented its strategic vision at the Jefferies Global Healthcare Conference 2025. The company emphasized its commitment to improving diagnostic rates for rare diseases, especially in children, while addressing profitability and operational efficiency. Despite facing competitive pressures and the need for greater visibility in volume growth, GeneDx is optimistic about its path forward.

Key Takeaways

• GeneDx is focused on expanding genetic testing for rare diseases, particularly in NICUs and outpatient settings.
• The company achieved its first full quarter with positive adjusted EBITDA in Q3 2024.
• GeneDx aims for a 30% volume growth in test processing for the year.
• The company is leveraging AI and automation to reduce costs and improve efficiency.
• Medicaid coverage for exome and genome testing has expanded to 33 states.

Financial Results

GeneDx reported a significant milestone in Q3 2024 with its first full quarter of positive adjusted EBITDA. In Q1, the company achieved $7.7 million in positive adjusted EBITDA, reflecting a 24% year-over-year growth. Exome and genome testing, which constitutes 40% of all tests, operates at an 80% gross margin, with potential for further expansion. The company is working to increase reimbursement rates and reduce denials, which are currently at about 50%, down from 65% in mid-2023.

Operational Updates

The company targets the expansion of genetic testing in NICUs, where currently less than 5% of babies receive such tests. GeneDx aims to conduct an estimated 225,000 tests annually across 800 Level 3 and Level 4 NICUs in the U.S. Key initiatives include the implementation of Epic Aura and the development of a CFO calculator to demonstrate the business case for genetic testing. Turnaround times have been reduced from 14 days to 5 days, with ultra-rapid tests available in 48 hours.

Future Outlook

GeneDx is targeting a 30% increase in test volume for the year, driven by the penetration of existing markets and the expansion into new indications such as cerebral palsy and immune disorders. The company also aims to expand Medicaid coverage from 33 to 50 states, although this is not yet factored into guidance. Efforts to reduce denial rates to 20% over the next 18-24 months are ongoing.

Q&A Highlights

During the Q&A session, executives acknowledged the need for better visibility into volume growth. They noted that revenue for the first quarter came in ahead of plan. GeneDx views competition positively, as it drives awareness and puts pressure on payers to cover genetic testing.

For a detailed understanding, readers are invited to refer to the full transcript below.

Full transcript - Jefferies Global Healthcare Conference 2025:

Tycho Peterson, Life Science Tools Diagnostics team, Jefferies: Good. Good morning. I’m Tycho Peterson from the Life Science Tools Diagnostics team. It’s my pleasure to introduce our next company this morning, GeneDx. Before we jump into Q and A, going turn it over to Katherine to introduce some media.

Katherine, Not Specified, GeneDx: Wonderful. Well, thank you so much, Tycho. Thank you to the entire Jefferies team. Coming out of another busy ASCO news cycle, I’m happy to turn everyone’s attention to another really important area of health care that is often neglected. And that’s the work that we’re doing in diagnosing children with rare diseases.

One in ten Americans has rare disease. Half of them are children. And so we are launching a campaign to really amplify and raise awareness of the problem that we’re trying to solve. So assuming AB is supportive of this, we’re gonna share with you a video that is emblematic of the the educational work that we’re gonna be doing.

Unidentified speaker, Unidentified: Rare is everywhere. It’s not just in doctor’s offices, but in classrooms, playgrounds, homes, everywhere you look. One in ten people live with a rare disease, many of them babies and children just starting their journeys. Yet even though rare diseases surround us, answers remain elusive. Parents of children with rare diseases often endure an endless maze of uncertainty, a long, complicated and exhausting odyssey while searching for the right diagnosis and care.

Months stretch into years of frustration, worry, and isolation. Countless appointments, inconclusive tests, and guesswork leave parents desperate for clarity. Clinicians and researchers too feel powerless, stuck in the search for answers hidden deep within mountains of genetic data. But at GeneDx, we see a different future. We see a world where the power of a diagnosis transforms lives, where every genetic condition is understood so that everyone can receive the care they need to live their fullest life.

We’re on a mission to break the cycle of uncertainty and hopelessness by empowering families and their network of providers with a clear and trusted path towards action. We’re revolutionizing diagnosis, making it faster, because reducing the time spent in uncertainty means families can reclaim their lives sooner. More comprehensive, because testing the whole genome or exome means nothing gets missed, bringing peace of mind to every family. More precise, because accuracy means eliminating guesswork, empowering clinicians to treat with confidence from the very first step. Easier to use, because having clear, easy to understand results means providers can personalize their patients’ care plans.

More accessible, because cost should never get in the way of receiving better care. With every diagnosis, GeneDx empowers parents replacing fear with knowledge, isolation with community, and uncertainty with hope. Clinicians, giving them the clarity to do what they do best, provide compassionate, informed care. Researchers, accelerating breakthroughs and improving outcomes for generations to come. We’re on a mission to end the maze of uncertainty forever, to ensure no family is left without answers and a clear path forward.

GeneDx, the catalyst for clarity, connection, and action in health care.

Katherine, Not Specified, GeneDx: Well, thank you. The opportunity that we have ahead of us is immense. There’s a growing number of families that we are aiming to provide answers to as early as possible. As early meaning eventually newborn screening, but today we’re focused in the outpatient setting with an increasing focus also in the NICU. So excited to dig in and I’ll hand it back to you, Tycho.

Tycho Peterson, Life Science Tools Diagnostics team, Jefferies: Great. And congrats on the media campaign. Kevin promised there’d be no Super Bowl ads, don’t worry about that. Maybe, Katherine, just to set the stage a little bit before we jump into some of the dynamics for this year and coming off first quarter. You’ve been on an interesting journey here, divesting the semaphore business.

How should we think about durable growth in volumes, ASPs? Maybe, Kevin, can you touch on the path to profitability? And just where are we kind of the journey for GeneDx?

Katherine, Not Specified, GeneDx: Certainly. We’re still in the early stages, which I think is good news, not just for investors, but most importantly for the many families that we’re aiming to serve. As we just talked about, one in ten Americans has a rare disease. Half of them are children. And the biggest problem that we’re facing today is the underutilization of our testing.

And there’s really two pieces to that that I think are important. One, an earlier diagnosis provides a child a chance for better clinical outcomes. And two, we’re currently paying for the lack of a diagnosis today. And the rare disease problem costs The US health care system about a trillion dollars annually. A substantial proportion of that lies in the lack of utilization of our testing.

So the earlier that we can get these kids diagnosed, the earlier we can get them out of what is currently still a five year diagnostic odyssey during which there is disease progression and significant costs to the families and to the health care system. So the opportunity that we have, we’re still in the early stages of. We, of course, as we talked about last year, we really focused on utilizing our exome in the outpatient setting, predominantly focused on epilepsy, on autism, on developmental delay. This year we’re expanding the number of indications that we’re focused on. So we’ve added cerebral palsy and we’ve added immune deficiency disorders.

So we’re going to continue to be able to serve a growing number of indications off of our core technology. The NICU opportunity is also one that is wholly underutilizing any testing. Fewer than five percent of babies in a NICU receive any genetic test, and that’s a problem that we need to be able to address. So we’re starting to focus in that NICU setting in the 800 or so level three and level four NICUs in order to really drive utilization. About sixty percent of babies in a level four NICU, we just generated and published data that substantiates this, they would benefit from whole genome sequencing.

And so we really have an opportunity here to diagnose children as early as possible. If they’re not getting diagnosed in the NICU, they’re being discharged from the NICU, and then they enter that diagnostic odyssey, which, as I said, is on average still five years, which is unconscionable to me given the fact that we can provide a diagnosis within weeks in the outpatient setting and within forty eight hours in the NICU. So we’re in the early stages. As we think about this year, we’re really excited about the additional indications and additional patient populations that we can serve.

Kevin, Not Specified, GeneDx: And you mentioned the path to profitability. Q3 twenty twenty four, our first full quarter with a positive bottom line from an adjusted perspective. So I think adjusted EBITDA, also take out share based comp, was positive in the third quarter of last year. We’ve now had three consecutive quarters on that basis, with the first quarter coming in at $7,700,000 positive on that basis. And I think quarter of the thesis here is still only 40% of all tests that we produced in the first quarter at GeneDx were exome and genome.

But exome and genome today operating at 80% gross margin and still we see opportunity to expand gross margins really twofold. Through higher reimbursement rates, we’ve been able to make steady, fairly meaningful progress at reducing denials in order to improve our average reimbursement rate. That’s led to a rapid expansion in gross margin for exome and genome. But still today, nearly half of all tests being denied. And we think being denied inappropriately and well within our control over time to control through proper engagement with payers in order to open up better access and remove and solve for administrative and procedural denials.

We’ve also seen fairly steady and rapid uptake in the number of state Medicaid programs putting in policy coverage. I started with a company eight years ago and there were nearly none. And now we’re up to 33 states with broad based exome and genome policy coverage. And importantly in those states with policy coverage, we are seeing a fairly high payment rate. I think an acknowledgment by those Medicaid administrators, not just in the clinical benefit, but in the overall health economic benefit to their Medicaid programs with taking a preventative stance using exome and genome, really to help solve for help or provide a solution for lowering overall health care costs for their systems.

And at the same time, we’ve spent the last two years really focused on calibrating the wet lab. We operate at a scale for exome and genome far surpassing any other commercial lab in The United States, full scale robotics automation in the lab. And so extremely efficient in terms of wet lab processes. On the dry side though, in terms of analysis interpretation, likely more efficient due to our scale than others in terms of cost, but we still see a really large runway in terms of lowering cost per test over the next several quarters and years through deploying AI automation across what are really manual steps today by high priced resources at that. And so with an 80% gross margin on exome and genome, we absolutely see room to expand that over time.

And that’s where the paradigm of today, 40% of all tests being exome or genome. And we’re in what we think are the early days of an inevitable long term conversion cycle of not just the rest of our test menu of multi gene panels, but the rest of the industries being replaced by ultimately running all hereditable disease diagnosis on a whole exome or whole genome.

Tycho Peterson, Life Science Tools Diagnostics team, Jefferies: Great. Yeah, there’s a number of things we’re going pick up on, particularly the NICU ramp. But before we do that, maybe just a little bit of a post mortem on the first quarter. It’s been a choppy market. You guys certainly felt that.

What were the lessons learned? Are there things you’re doing different going forward in terms of in particular around visibility with the business?

Katherine, Not Specified, GeneDx: Yeah. So I think looking back on Q1, we went into the call feeling really good about all of the metrics that we presented to the Street. Revenue came in ahead of plan. We felt good about volumes, gross margins coming out of the call. We’ve spent a lot of time with investors since then.

And I think it’s evident that we could have done a better job providing greater visibility into how volumes were going to play out for the year. And so we think that we’ve used this as an opportunity to kind of reset and make sure that there is greater visibility in terms of how we think that 30% volume growth will look in terms of the full year and really giving people greater visibility into the contours of the quarter. But as we think about the remainder of the year, the benefits that we’re going to see based on new indications and the NICU, I think, really account for the way that we’re thinking about q three and q four and what the uplift is going to look like there.

Tycho Peterson, Life Science Tools Diagnostics team, Jefferies: And I think that’s a good thing to dig into here. As we think about that bridge to get to the 30% volume growth for the year, how much is NICU? How much is new indications? How much is Epic? Maybe just help us kind of bridge that.

Kevin, Not Specified, GeneDx: Yeah. Think if you look at the first quarter, it provided 24% year over year growth for the first quarter. But I think important to note beyond the inherent nature of not every quarter and every month in the diagnostic space being equal, I think more important, the first quarter only had available to it what has been extreme focus and discipline on our part to only target in particular certain call points and indications. It was the second quarter of twenty twenty three that for the first time GeneDx called on a new call point outside of the core most experts of geneticists in this country, and that was a pediatric neurologist. And really just a focus on autism, epilepsy, and intellectual developmental delay.

Frankly, with an approach, a mandate, and a desire to get the company profitable, we identified the guidelines and therefore reimbursement policy for those indications were really well established. And it turns out we were right. We drove a radical reduction in denials, improvement of average reimbursement rate, and we did turn the company profitable. I think over time what you should expect from us is to continually identify areas to expand into new indications and new call points. But the full year guide of 30% was built on that base of continually farming that call point of P neuros with autism and epilepsy.

We’re still nowhere near mature and saturated in that. And so the 24% or so growth in the first quarter year over year, representative of what you might expect for the remaining quarters of this year, just from those indications at that one call point. We’re then layering on top of that new indications cerebral palsy. In March, we provided permission structure and materials to the team to target the sixty thousand kids in The United States that should benefit from an exome or genome to target cerebral palsy. Immune deficiency disorders, a new call point.

So a brand new cohort of doctors. It’s about 600 pediatric immunologists and we think about twenty five thousand kids a year that should be getting a test to look for inborn errors of immunity. And there will be more indications to come throughout this year and many years to come. I think what you’ve seen from us is a bit of a disciplined approach not to just target volume ahead of guidelines and reimbursement clarity, I. E.

Not just bringing in volume for the sake of volume, but making sure it drives profitable growth in terms of revenue, gross margin, and the impact to the business as a whole. So if you look at the bridge from the first quarter, ’20 ’4 percent year over year played out just about within 100 or 200 units exactly where we thought it would. The second quarter by and large playing out exactly where we thought it would through today. All to say the bridge from that 24% to a 30 comes in large part in the outpatient setting, continually layering on orders from CP, immune disorders, other indications that we’ll be rolling out throughout this year. And then to a lesser extent in terms of actual volume units, the NICU, which is an extremely important market for us to provide a proof point on this year.

But in terms of the bridge from Q1 to say an exit rate at Q4 to average out to a 30%, the vast majority of that volume is coming from the outpatient setting. With the NICU, I think we’ve now built all of the foundational pieces to develop that market. It’s going to take several years. We think there is 800 level three and level four NICUs in this country. And within that, we think no less than 225,000 tests a year should be run.

And as Katherine mentioned earlier, less than five percent of babies in those NICUs today are getting any genetic tests. So it’s going to take us several years to fill out that market. But really excited to lean into development there in Q3 and in Q4.

Tycho Peterson, Life Science Tools Diagnostics team, Jefferies: Couple of things to follow-up, guess. Is a couple thousand tests still kind of the right bogey for NICU this year? I mean, most investors you’ve talked to say three four thousand in that neighborhood. And then you’ve been prepping for this for a couple of years. So maybe just talk about the legwork you’ve done to get ready for this launch.

And as a strategy initially to go deep on a few accounts, to go more broadly, just talk a bit about early rollout.

Katherine, Not Specified, GeneDx: Yeah. So the team was really focused on outpatient exome last year. But it was around this time that as we started to see an outperformance of our plan that we spent some time with the team that was looking at the inpatient opportunity to say, if we had Epic Aura, what would that pipeline of business look like? As Kevin said, it’s all institutional pay. And given the fact that fewer than five percent of babies get a test, a massive opportunity for us.

Based on what we heard back from the sales force, it became a no brainer to start investing in Epic Aura. I think we’ve seen the success of Epic Aura with peers of ours in the space. And so began really putting all of the work into place last fall. And we’re able to start working with UNC as kind of our first pilot. And so that’s one piece of what makes us ready to be able to win in the NICU.

That is a key part of being able to put testing at the bedside, which is where the neonatologist is. Today, the geneticist is typically the one who’s ordering testing, which is why you see some of these babies getting kind of escalated to that geneticist and you see kind of a smattering of orders coming in today without Epic. But what also is necessary were the data that we presented out of Seek First that shows that sixty percent of babies would benefit. We also put together and I think this is a really important part of any company in our space being able to make the economic argument, the business argument, to the hospital. And so after meeting with some of the administrators, we realized we needed to put together what we call a CFO calculator that makes the business case for why this is going to be ultimately a better decision for their business.

And so we’ve got the data showing clinical outcomes. We’ve got data showing it’s better for the business. We had some product improvements that we made last year, namely adding repeat expansion, so closing some gaps in our genome, lowering our turnaround times from fourteen days to five days, and now an ultra rapid test, which is in forty eight hours. And then this last piece is on Epic Aura, which will drive utilization. So we feel like we have everything in place now to really be able to realize the opportunity.

And we know that that’s going to take some time. Changing clinician behavior, of course, takes time. But it now is in the hands of the sales reps to make sure that once we start activating additional sites, we can start pulling through those volumes as well.

Tycho Peterson, Life Science Tools Diagnostics team, Jefferies: One of the questions we’ve gotten post the quarter was just you’re leaving ASPs flat for the year. You’ve got a lot of drivers here. You’ve got ultra rapid new indications. Obviously, denial rates continuing to go down. Why are flat ASPs the right way to be thinking about it?

Kevin, Not Specified, GeneDx: Yeah. It’s a good question. I think more so just based on some prudence and conservative way to understand the dynamics of the markets in which we operate. If you look at ASPs, yes, the ultra rapid would be accretive. The more we can drive mix of that ultra rapid over the five day test, it’s at about 2x the price point of the five day turnaround time.

That would be accretive. If we look at the overall denials across the commercial set of insurers, still about a 50% denial rate with more than twothree of those denials coming in the form of procedural administrative documentation related denials. And so nothing with respect to a dispute around medical necessity in large part. I think that those are the types of things that are in our control. And our team has proven over the past two years to prove efficacy, but at the same time understand that our commercial payer partners have their own incentives and there’s a natural back and forth to some of that over time.

And so have built in a prove it to me mentality on improving denial rates in terms of our guidance approach. And then on the Medicaid population, we’ve now, as we’ve said, moved to 33 states covering the test. I think what’s really encouraging is in those 33 states that have coverage, we’re seeing a fairly high payment rate, which is what we like to see and I think speaks to the overall value proposition that those administrators are seeing with very little denials and even less related to superfluous administrative documentation requirements. That said, we expect to move from 33 states to 50 states eventually, but it’s largely out of our control. We do our part to advocate.

Kathryn spends a lot of time engaging with policymakers as does others on our team. But to pick up policy coverage in those state programs takes the bureaucratic decision makers, it takes the state legislature, all things that take time. And so from a guidance perspective, tend to rely on zero new states. Do we expect to outperform that? Yes.

But again, like to see a wait and see approach on that.

Tycho Peterson, Life Science Tools Diagnostics team, Jefferies: And what’s that trajectory look like to get down to that 20% denial rate that you’ve talked about over time? Should we expect a similar level of step down this year versus last? And is there a big difference between government and commercial payers on denials? And then how do we think about new indications like the CP potentially something that could have a lower denial rate once you get coverage?

Kevin, Not Specified, GeneDx: Yeah, mean, you look at the near 50% denial rate today, step back to mid twenty twenty three, that denial rate was about 65% of all tests. So a fairly, in our mind, radical improvement in lowering that. To move from 50 to 20 in the course of eighteen months to twenty four months is certainly plausible, but not to be expected and not anything that we want to promise. And so the way we’ve been tackling this really is on a payer by payer approach to design our IT workflow, manual process to be able to adhere to what is a very tangled web of administrative documentation, medical necessity roles, which are different from every payer. Now you might expect over time as the technology and product matures that there will be some consistency across the payer universe.

We’ve seen that play out in other products. Take something like BRCA1 and two, very consistent policy and requirements across every payer. So a one size fits all approach works. That is our desire to help influence, but today it’s not. And so over the next couple of years, we’ll continue that work to move payer by payer.

The guide assumes reimbursement rate flat. We absolutely think we can improve on that. It’ll take several quarters or a couple of years to move towards that theoretical max.

Tycho Peterson, Life Science Tools Diagnostics team, Jefferies: You know, I think one of the things that’s been unique about your story is you haven’t really had a lot of competition. It’s mostly academic medical centers, Rady’s, Baylor Genetics. We did see one of your competitors do an Epic Aura, you know, implementation. Talk a little bit about how you think about competition evolving. Is that potentially a good thing if there’s greater awareness, more pressure on payers?

How do you think about competitive dynamics?

Katherine, Not Specified, GeneDx: Competition is always a good thing. So just to, articulate what our advantages are. So one, we’ve run more exomes or genomes in rare disease than anyone else in The United States. And the data asset that we’ve been able to amass is incredibly powerful in terms of us being able to deliver the most accurate results to these families. We’ve seen more patients with these variants, and so our team has in their hands a genotypic database that is extremely large.

We’ve run more than 800,000 exomes and genomes, all enriched for rare disease. We’re running mom and dad 60% of the time as comparator samples. And we were investing in Medicaid before we had Medicaid coverage, which means that we have a diverse group of patients, which makes that data set even more powerful. It’s complemented by more than 6,000,000 phenotypic data points. So think about all the clinic notes that come in with an order, think about symptoms, about medications, about family history, all of the additional contextual information that’s really helpful to pair with the genotypic information.

So we’re able to upgrade or downgrade a variant of unknown significance more frequently than other labs, which creates this virtuous cycle of product improvement as we run more and more patients. To give you a sense of the the that data moat, we were at 270,000 exomes and genomes in 2021 when I arrived. We’re now up to more than 800,000. So part of our strategy is to run as fast as we can to grow and expand and accelerate the underlying data asset that we have. We also have built the scale so we can run better, faster, cheaper than any other lab in this space.

All of that being said, I do think that competition is a really important thing. It helps to ensure that there are more voices advocating for Medicaid policy. It helps to ensure that there’s a greater appreciation of the health economic benefit. So whether it’s in the NICU or in the outpatient setting, we welcome competition. We’re confident that we’ve got the most accurate, best, fastest, cheapest product that’s out there, which means that we have everything that we need to win every time regardless of if it’s outpatient, inpatient, or eventually in newborn screening.

Tycho Peterson, Life Science Tools Diagnostics team, Jefferies: And you guys have made the decision to exit some of your legacy businesses, multi gene panels. Has that created any friction with customers as you’ve gone down that path?

Katherine, Not Specified, GeneDx: Not unexpected friction. So when we looked at reducing our test menu, we did a very rigorous analysis to say if we just eliminated all testing other than exome and genome, what would happen? The answer there was we would have lost way too many customers. And so we landed on a strategy of let’s always make sure we have the best clinical tests based on guidelines and what experts think. So the best thing for patients is always number one when we’re making a decision, followed by what are the economics of the test.

So we’re confident that the menu that we have today, best fits for patients and also what we would call good volume for us. We eliminated testing that was frankly not good for the patient and not good volume for us. So we knew that there would be some attrition to customers, but that was a calculated risk. And if that means that low margin volume is going to another lab, we’re happy to send it that their way.

Tycho Peterson, Life Science Tools Diagnostics team, Jefferies: In the closing minute, I just want to hit on m and a. You know, you’ve started to do this. You did the fabric deal. Talk a little bit about, a, what holes that filled and then, b, what the M and A strategy is going forward. Is this a plan to kind of roll up more of this space?

Katherine, Not Specified, GeneDx: Sure. So we have a full roadmap of capabilities that we want to be able to build to really grow from our core. One of them was interpretation as a service. We looked at our own ability to deliver that. And we looked at about a dozen other players in this space, small startups to capabilities within larger companies, Fabric was at the top of the list in terms of their ability to do it more accurately.

So they are the market leader. What we really want to be able to do with Fabric’s AI driven interpretation platform is open up international markets and also be able to solve unique problems here in The United States. As we think about a future of newborn screening, whether it’s a baby born in Miami or a baby born in Seattle, the interpretation platform should be the same if they’re doing sequencing on-site there. So fabric enables us to more cost effectively open up international markets and then solve some problems here in The United States that require interpretation as a service.

Kevin, Not Specified, GeneDx: I would say on top of that and that the strategic rationale for the deal was, as Catherine just outlined, to be able to export our differentiated capability outside The US and then solve for that consistency dynamic across newborn screening. I think we’re just as excited to say what could it do to help accelerate automation across the dry side of our lab. And so what the team is undergoing now is assessing our homegrown interpretation platform, is proprietary and unique. We had plans, as I described earlier, over the next several years to drive further COGS efficiencies throughout that interpretation layer. We now have the ability of fabrics technology and know how interested to put the two platforms together and create a hybrid that can further accelerate bringing down cost per test and turnaround time for us.

That takes some time, so wouldn’t expect a major step down in cost per test in the balance of this year. But certainly in 2026 and beyond, It’s an added bonus because it will help accelerate our long term roadmap to deploy AI and automation across the dry side interpretation platform.

Tycho Peterson, Life Science Tools Diagnostics team, Jefferies: Great. We’re out of time. We’ll leave it at that. Thanks. Thank you.

This article was generated with the support of AI and reviewed by an editor. For more information see our T&C.