Competing against your commercial targets, right? Continue to build out the platform. Why don't you just kind of walk us through the momentum that you've been building over the last couple years and where you are now and kind of how you're positioned there to jump off into 2026 and beyond.
Yeah. Thank you everybody for being here. I mean, GeneDx has operated for 25 years and with a focus specifically in solving the world's hardest to diagnose cases around rare disease. For the past several years, really focused for the first time since 2021 with full commercial efforts behind our flagship whole exome and whole genome sequencing technology. A technology we spent the better part of the last two decades refining. The core of the business had been expert clinical geneticists in the United States. There's about 2,000 of those really utilizing exome and genome as a last in line diagnosis for those hardest to crack cases. Most people over the past two decades hadn't heard of GeneDx unless you were a global expert in genetics and rare disease.
GeneDx is really where you went, when you were searching for an answer. What we've embarked on over the past several years is to move the utilization of those tests outside of just the pure expert space. Beginning in 2023, launched into Pediatric Neurology as the first of what over time will be a wide array of pediatric specialists and eventually, adult, specialists as well. An exciting time for us, to move in beyond specialty call points. The summer of last year, the American Academy of Pediatrics updated their genetic testing guidelines for the first time in 11 years, calling for exome and genome to be a first line diagnostic for children with global intellectual and developmental delay.
A company with a long history, but really just a couple years now of proliferating the use of exome and genome into standard of care across multiple different physician types. We're embarking on an investment cycle to expand the commercial team to go after what we think is ultimately gonna be a massive market that embeds genomics into the medical stack around the world.
When you guys talk about your overall market, you break it into foundational, expansion and future markets. Can you just level set and briefly describe what you mean by those before we start digging into the details of each?
Yeah. Happy to. Those foundational markets are those that we have most experience with, that being clinical geneticists. There's about 2,000 expert clinical geneticists in the United States. Pediatric neurologists, there's about 2,000 pediatric neurologists in the U.S. Over the past several years, those have really been the primary outpatient call points that we've been actively engaged with. What you see in 2025 is the overwhelming majority of all volume of revenue coming from just those two call points with some contribution from the neonatal intensive care unit. Those two markets making up what we think is a foundational base of experts and foremost specialists with respect to the use of genetics. I think going forward, still a lot of room to grow there.
Eight out of 10 clinical geneticists order their exome and genome from GeneDx and have for many years. Fairly well established and entrenched with a strong market share in terms of clinician counts. Even those foremost experts are still only ordering exome and genome for about a third of all patients they see. Now you'd expect every patient a geneticist sees to ultimately get a genetic test. Today, they're still very much entrenched with ordering single gene tests, multi-gene panels, and so a lot of runway to growth for multiple years to come, even in that innermost core of expert geneticists by converting the use of genetic tests from panels and into exome, and eventually a whole genome backbone for all.
In terms of pediatric neurologists in that foundational market, about a third of all pediatric neurologists at this point are ordering exome and genome and from GeneDx. Still a large runway of activating more ped neuros. It'll take several more years for us to accomplish filling up that bar close to the 80% market share we have in geneticists. That cohort of ped neuro still ordering for about 15% penetrated in terms of patient TAM. We'd expect over time to continue this evolution of a replacement cycle of single gene tests and multi-gene panels with strong growth to come even in those foundational markets, which have been where we've been commercially focused. On top of that, we're now two years into commercializing the neonatal intensive care unit.
We think ultimately there should be north of 200,000 tests a year ordered in the NICU. We've got about 25% of those NICUs with active accounts ordering at some small levels from us today. The standard of care today is having a reality that about 5% of all patients in the NICU are getting any genetic tests. We know what good looks like there. It's what Seattle Children's is doing. They outlined that in a study we released a year ago called SeqFirst, in which they're ordering a rapid genome on 60% of all babies in their NICU and seeing the clinical and economic benefit from that. Still in the very early innings of what are those three call points, which is the entirety of what we called upon in fiscal 2025.
What we've outlined recently is a number of markets that we'll be expanding into, notably the prenatal space with the use of a late-term ExomeDx Prenatal or GenomeDx Prenatal, that's a diagnostic level test. The largest market of all, the general pediatrician on the back of those AAP guidelines released last year.
All right. Going back into the foundational market, this has been kind of the workhorse of your business right now. 80% penetrated on the general specialists and/or the generalists, and then you have the specialists there, lower penetration. Like you said, like, something like 15% of patients. Why? I mean, what's the. I mean, clearly these doctors are using it, but not using it enough or using it with all their patients. What's why not. Typically, you see them adopt something, and it's like, "Okay, we're just going to use this with all the patients." We check the box, we get. I mean, they're not getting paid for it, but it's, you know. I don't understand why there's just such a hesitance or inability to penetrate that patient population.
Yeah. It's a great question, and it mostly comes down to education and our ability to repeatedly get in front of those physicians to bring them up to speed. There were old realities around exome and whole genome sequencing that are no longer true. That being that only an expert clinician, a geneticist could understand the results of these tests, and that these tests take weeks, if not months, to produce, and that they were so expensive that they were cost prohibitive. That's frankly what GeneDx has aspired over the past decade to solve for. We've gotten turnaround times and cost and complexity down towards parity with multi-gene panels. That's new news for many clinician outside of the genetic space that we run into.
Dispelling what used to be old realities that are now myths is part of the education process. I think there's entrenched behaviors. All of us in healthcare, as many steeped in all forms of healthcare in this room know that changing doctor behavior
Mm-hmm.
is one of the hardest things to do in all of healthcare. Those doctors who have been accustomed to running single gene tests or multi-gene panels for certain symptom types or hypothesis, getting them to change behavior just takes time. Again, repetition to get back to the physician's office to make sure that they're staying abreast of the technology advancements that have been immense over the past decade. Third, some of this is in our control. If you look over the past three years or so of commercialization efforts on our part, we really were just focused on a few specific diagnosis codes or indications.
Mm-hmm.
Namely, symptom types and disorders around autism, epilepsy, and intellectual developmental delay. Not because those are the only disorder types that our technology can diagnose. We can and do span the spectrum of all rare disease. Those are areas specifically where we saw that guidelines were in place and therefore had influenced payer policies already, and there was a fighting chance to get paid fairly for our services. I think what's incumbent on us to further develop the market is continue to bring clinical evidence and economic evidence to payers, whether those payers are Medicaid programs or commercial payers, to open up the aperture of coverage. There's been an emergence of guidelines over the past half decade. We don't expect that to slow down at all, and that will further make it appealing enough for us to go target to bring volumes in.
At the end of the day, an exome or a genome is a better test. It's a better mousetrap than a multi-gene panel. That is well understood by physicians. We want to make sure that before we meaningfully take on that volume that there's an ability to get paid, and that will continue to improve over the next half a decade here.
Yeah. I was just about to ask about the clinical utility of it. Is it like that they doubt the clinical utility of it? I mean, I know you have like specific test indications themselves, but how much on that piece is the education? Once I get net fees reimbursement, they're like, "Oh, okay, this has been vetted." Is that kind of how the path here to adoption to the test have come?
Yeah. I think what we've seen is sometimes it takes multiple visits, that repetition to first, like I said, dispel those old myths about the test to then try and influence changing behavior. Ultimately then proving that demand to payers is what really gets them to move the needle on reimbursement coverage. Clinical data, economic data, helpful. The biggest tool in the tool chest is always physician demand. That will mean in certain situations, bringing on volume prior to reimbursement being in place, but that's an important part of the dossier to influence the emergence of more coverage for more patients. Ultimately, that's what we're in the business of doing.
You've exited the year with, I think, 50 reps in this business, adding 25 more. Your guide embeds 25%-25.7% on this side from a volume growth perspective here. Walk us through the assumptions, and is this really just about how much is, I guess, efficiency on existing reps versus just adding on the onesies and twosies from the new reps?
Yeah. If you look at the outpatient setting, those foundational markets, last year, we really went to bat with roughly 50 reps, 50 bag-carrying sales reps. That team calling on specialists, geneticists, ped neuro, and additional specialty types. Think, specialty types like pediatric cardiologists.
Mm-hmm.
That team will go from 50 to 75, or has already here in the first quarter. That allows us to layer on those additional call points of new specialists, while at the same time they will stay churning the crank on what we see as large pockets of growth still to be had in that innermost core of those foundational markets. Geneticists continuing to improve utilization rates to get them to order these tests for more and more of their patients. For us in the geneticist community, with eight out of 10 already ordering from us, it's not about winning new accounts, but it's improving utilization at existing accounts, and that will continue. At Pediatric Neurology, like I said, there's still about two-thirds of that doctor population that we've yet to reach.
We've been in that call point active for two and a half years now, and so the additional heads will allow us to accelerate knocking on more doors, go through that education process, activate more ped neuros, and continue to improve the utilization rate there while also giving them those additional call points of additional specialty types. If you look at the components of what we guided to 33%-35% volume growth, a good 25%-27% of that is coming from those foundational markets alone, which have multiple years to continue to mature into.
Yeah. Okay. On the moving on to the expansion markets here, you talked about, you know, your general peds, your NICU. I had to write them all down. You have five of them here. Prenatal, your adult specialists in the international. I think that, you know, from the adult specialist, the international is more kind of outside of what your core has been. Focusing on like the general peds, the NICU and the prenatal, I remember we talked about NICU last year, and it's just like a notoriously tough market to penetrate. You're, I think, like the utilization is probably. I'm not going to put words in your mouth. My feeling was it was worse than even the utilization from like the specialists and geneticists above. Like, can you just walk through why that's such a difficult market and why?
Again, like if you're in the NICU, that is a very motivated patient population to figure out what is going on. I mean, I totally would be like, "I don't care. Give me the test. I want to know what's going on." Why isn't it like we're seeing that pick up more meaningfully?
Yeah. It's really a market we began to commercialize in 2024. 2025, a number of key milestones. Starting with that SeqFirst study I mentioned earlier came out in February. We think that's a definitive clinical marker. We launched a health economic tool for use by hospital administrators to prove the ROI on the test in spring of last year. We began a path of implementing sites onto Epic Aura last spring. It was in April of last year we launched a two-day turnaround time in the NICU to supplement the five-day. If you look back at fiscal 2025, overall volume flows did fall short of our expectation of where they were a year ago. Underlying that was a really good sign in terms of account activations.
We now have more than 25% of the target 800 Level III and Level IV NICUs with assigned contract at GeneDx and actively ordering. We saw in 2025, on the heels of an approach to work top-down through hospital systems, working through the C-suite of the hospital, whether it's the chief medical officer, the CEO, the CFO, bringing attributes that they would all be most interested in. A lot of success at activating that level of the hospital to understand the clinical and economic benefits, sign contracts. That was the bright spot. Where we fell short was in improving a utilization rate within those NICUs. Standard of care today has, you know, them ordering for about 5% of their births. Like I said, we know what good looks like.
It should be closer to 60.
Yeah.
We're supplementing this year as a key lesson learned is, of course, we will continue that top-down approach. Inadvertently, I think, where we can and have already approved is putting in additional resources on the ground to work bottoms up to engage with folks on the floor of the NICU. The neonatologist, the neonatal nurse, the department chair and department head, work with them to ease the implementation burden, not relying on having a contract alone, but ensuring that we're working actively to educate, to help with protocols, and ease implementation in order to pull volume. That's a new go-to-market approach for the past couple months, and we're starting to see early signals that the utilization rate in those NICUs are picking up in that regard.
There's no doubt there's a long cycle to work both top-down and bottom-up to influence what is a fairly radical change in care across those neonatal units.
From the bottom-up side, is it kind of all right? We've laid the groundwork on the top-down, and that 25% of the 800, that's where you're going to deploy more of the commercial hand-to-hand combat in the NICU, where you already have some presence and buy-in from the C-suite and management. Those sales and BB people will go out and just continue landing. It's like this land and expand.
That's exactly right.
All right.
That's exactly right. We're starting with a supplemental team, and we added 10 reps in January specific to the NICU. As you laid out, the fertile ground for them would likely be those accounts that we've already activated, while in parallel, we continue to sign more contracts and activate more accounts.
Got you. Then on the general peds, you know, again, you're adding reps across the entire business here. You're adding, I think, 50 more here, or you have a dedicated team of 50 and you're adding more in this, you know. Like, how does the general peds. Like, it feels like all these, like, sub-markets are completely different and siloed and at risk of boiling the ocean all at the same time. I mean, why is this like, why do you need to be in general peds and then NICU, and how do they all talk to each other and feed into each other?
Yeah. It's a great question. They are very different. There's different characteristics around education levels that are necessary and then what it will take to win in each of those. One thing that we've done intentionally to avoid distraction factor is that specialty team that calls on the outpatient specialists, segregated from the prenatal team calling on maternal-fetal medicine, segregated from the team calling on general pediatricians and the NICU. Obviously, they work together, they share knowledge and insight. There's some shared functions around marketing and leadership. Those are all dedicated sales teams. Rather than try to have a rep who could be good across all of those, we want the people engaging with our clients to be steeped in what exactly makes those positions tick.
That's also gone into the hiring plan. If you look at the near 100 heads that we added for the first time, not just adding folks with specialty diagnostic experience. Take general pediatrician for an example. Yes, of course, we brought on some experienced general diagnostic reps in that space, but we've also brought on people who maybe don't have diagnostic experience, but they've been selling therapeutics or vaccines
Mm-hmm
...or other products to pediatricians who understand how those offices tick and the phenotype, no pun intended, for those specific types of doctors. Yeah, I think there's a call to say, "Well, why go into all of those now, versus take one at a time?" I think at the end of the day, there is a large unmet need. There's only GeneDx, we think, in large part that can solve for some of that at the moment. You know, if you look at our diagnostic quality, our turnaround times, the end-to-end customer experience, we think it necessary for us now to invest in taking market share to extend the leadership position we have in geneticists. As I said, eight out of 10 ordering from us.
We think that expert support is gonna carry forward as we move into the non-expert space. We're in a unique period of time where we're ready, willing, and able, and we think uniquely capable of making a big bet to enter into these new markets.
It seems like you're putting a big bet into enter these markets. You're investing a significant amount of capital. Talk about the pull from the market side. Like, what are the catalysts coming up this year that are gonna help unlock this? 'Cause it can't all just be on your side.
In the general pediatrician market, the largest, we'll start there. We've done extensive research. We've been engaged with that community since guidelines have come out, focus groups, qualitative, quantitative research. I think all of that tells us that these physicians can and will be orderers, but they've outlined for us criteria both on the front end and the back end of the diagnostic process in terms of user experience that they need to see. We've committed to a next generation customer experience, effectively take the burden of a fairly lengthy ordering process off of the physician in the physician's office that will release later this summer.
On the back end, a report that is more tailored for a non-expert, easier to read, easier to understand and digest, and more so, how do we arm the physician, so they don't feel exposed without the knowledge to explain the diagnosis to a patient, and more so what to do next with that diagnosis. Part of a suite of customer experience enhancements coming out later this summer. To us, that's really the starting gun, for the market to really open up. A key milestone there to be on the lookout for, that experience is in beta testing now being beat up, fairly extensively by pediatricians. It will be designed and built for pediatricians by pediatricians, and like I said, that's in beta testing now.
On the prenatal side, we did launch a new product into that market in February that was a GenomeDx Prenatal. It supplements a ExomeDx Prenatal that we've had on the menu, frankly, for many years now and had been seeing organic volumes. Despite the fact of never actively calling on MFMs, we started to see demand come through in terms of orders of that ExomeDx Prenatal that was really coming organically, word of mouth, peer-to-peer exchange at their conferences, them finding GeneDx.
Mm-hmm.
What it told us is if we were having good success selling that product without even trying, we ought to try. We built out a team of 10 to get to learn the market. I think periodically throughout the year, we'll be coming back to say what are the signals and lessons learned in the first couple quarters, to identify when's the right time to expand that sales team. The team of 10, certainly you can envision larger. If you look at what is the goal there, about 4% of all births in the United States have some level of abnormality flagged, whether through ultrasound or some other diagnosis, that would make them a good candidate for this test. That's about 150,000 tests a year.
To knock on all those doors, at some point you'd expect a larger team. Another key watch out for us throughout the year is just a signal on how that market is developing. Of course, the NICU, we wanna be able to report back definitively that that step up and that utilization rate towards what we're seeing in SeqFirst is starting to become a big reality.
That's great. Thanks. Really appreciate the time. That's all. That's it. We just kind of blasted right through them very quickly.
Thanks for having us.
Yeah. Thank you.
Thank you.