GeneDx at Canaccord Conference: Expanding Genomic Horizons

On Tuesday, 12 August 2025, GeneDx Holdings Corp (NASDAQ:WGS) presented at Canaccord Genuity’s 45th Annual Growth Conference, showcasing a robust second quarter driven by a surge in demand for genomic testing services. While the company highlighted its strategic focus on expanding into new markets and improving reimbursement rates, challenges remain in navigating the complexities of insurance denials and expanding Medicaid coverage.

Key Takeaways

• GeneDx reported over $100 million in Q2 revenue, with growth fueled by both existing and new customer bases.
• The company is leveraging its vast rare disease data asset of over 850,000 exomes and genomes to enhance diagnostic accuracy.
• Expansion into the NICU setting with rapid genome sequencing is a key growth driver.
• GeneDx is focusing on international expansion and expanding its reach to the adult population.
• The company is working to improve reimbursement rates and simplify the customer experience.

Financial Results

• Q2 Revenue: Over $100 million, with 75% growth from existing customers and 25% from new customers.
• Market Share: Maintained 80% market share among clinical and medical geneticists.
• Reimbursement: Strong average reimbursement rates, aiming to reduce denials and improve revenue cycle management.
• ASP: Approximately $3,700 based on a 55% payer rate, with a goal to reach 80%.
• Medicaid Coverage: 35 states cover exome testing in outpatient settings, while 17 states cover rapid genome sequencing in the NICU.

Operational Updates

• Data Asset: Increased to over 850,000 exomes and genomes, up from 270,000 four years ago.
• AI Utilization: Implemented MultiScore, an AI tool to aid geneticists in variant identification.
• Epic Integration: Three sites are live with Epic Aura for NICU testing.
• Fabric: Launched as an interpretation as a service product for international markets.

Future Outlook

• General Pediatricians: Aiming for genomic testing adoption in general pediatrician settings by 2026.
• NICU Market Size: Estimated at 250,000 tests per year.
• International Growth: Focused on expanding through Fabric interpretation as a service.
• Adult Population: Expanding testing for conditions like Parkinson’s and Alzheimer’s.
• Customer Experience: Investing in simplifying the ordering process and making reports intuitive.

Q&A Highlights

• Market Share Defense: Continuously expanding the data asset and maintaining accuracy and access.
• Reimbursement Improvement: Enhancing revenue cycle processes to reduce denials.
• NICU Expansion: Emphasizing rapid genome sequencing and Epic integration.
• AAP Guidelines Adoption: Education and outreach efforts to drive adoption among general pediatricians.

For a more detailed understanding, please refer to the full transcript below.

Full transcript - Canaccord Genuity’s 45th Annual Growth Conference:

Unidentified speaker, Canaccord Genuity Analyst, Canaccord Genuity: Welcome to the Canaccord Genuity Global Growth Conference. I’m calling from a couple of science, fluid dynamics for Canaccord. Please welcome me to a fireside chat with GeneDx today. The company has a leading genomics testing business focused on whole exome and whole genome, screening, focused on rare disease and pediatric diseases as well, and as well as a, really unique, like, interpretation and, data asset too. So we’ll talk about all that today.

With the company, have Katherine Stuhland, CEO, and then Kevin Feeley, CFO. So thanks guys for joining us today. Just give us a brief introduction to GeneDx, talk about what the vision for the company, and then what’s kind of like what’s your longer term focus as well.

Katherine Stuhland, CEO, GeneDx: Wonderful. Well, thank you so much for having us. Thank you all for joining us today. So, our mission at GeneDx is to diagnose any genetic disease as early as possible. The earlier you diagnose disease, the more opportunities there are to be able to ensure that people have options from a therapeutic standpoint or other medical interventions in order to live a long and healthier life.

Today, our focus is indeed in the pediatric segment. We diagnose more children with rare diseases than anyone in the world. We deliver the most accurate information coming out of a genome because we’ve been doing it longer than anyone. We have a massive rare disease data asset that’s informing every single diagnosis, and so over the past twenty five years since emerging from the NIH, we’ve really been able to scale the technology and we’re now at a place where we can deliver an exome or a genome’s worth of information within weeks, if not days, if not hours. We’re able to do it cost effectively, which ensures that more people have more access to this testing.

And so, as we think about the future of healthcare, we really want to be in a place where we can utilize this information not only earlier from a diagnostic perspective, but even earlier in terms of proactive and predictive medicine as well.

Unidentified speaker, Canaccord Genuity Analyst, Canaccord Genuity: Awesome. And you had a great quarter in the second quarter, over 100,000,000 in revenue. Just talk about what the drivers of that ASP volume, things like that.

Katherine Stuhland, CEO, GeneDx: Excellent. We were really pleased with with the team’s performance, which I think shows increasing demand for our services. So we saw really healthy volumes coming in, about 75% of our growth from existing customers, which tells us that our services are valuable and that they’re seeing more and more patients within their clinics that would benefit from our testing, And so, really continuing to drive utilization with customers who have found great value. We’ve also been able to add new customers, so about 25% of our growth came from new customers to GeneDx. So, I’m really pleased on the volume side of things.

That’s all from our core, and so as we think about where we want to go, we’ve enjoyed 80% market share in the historic customers, which are clinical and medical geneticists, but really driving utilization earlier for these patients. So, today focusing on pediatric specialists, that’s been a really massive area of focus for us. So happy to to see the volumes coming in the the door and demand for our services. That paired with strong average reimbursement rates. So we’ve been really turning the crank on revenue cycle management and continuing to to reduce denials.

So about two years ago, assembled a really fantastic team that has made pretty incredible progress. So the the strength of the quarter coming both from demand for services as well as our ability to continue to get paid more and more often for our services.

Unidentified speaker, Canaccord Genuity Analyst, Canaccord Genuity: Got it. And then where does like adoption kind of stand in the general world as well as like the specialist world as well? And how’s that kind of trended in the past few years?

Katherine Stuhland, CEO, GeneDx: So as we think about where we want to go, the general pediatrician is going to be a really important opportunity for us. As we think about it, a pediatrician is the first line of defense for any family, and so being able to really, at the sign of a symptom with a child being able to embed our services in that general pediatrician setting is is an important opportunity for us. The AAP guidelines were just updated for the first time in more than a decade, and so that really gives us the the a massive catalyst to start education. So as we think about a future, that’s gonna be our focus in 2026 and beyond. Today, where our focus has been, as I said, driving utilization outside of those medical geneticists where we have 80% market share.

Eight out of 10 geneticists relies on us because of the accuracy of our services. They know that we deliver the most the most accurate information, and they advocate for us in the specialists segment. So pediatric neurologists, as we think about where that sits today, we’re about 14% penetrated in patients who are going to see a pediatric neurologist, and so there remains a really large market opportunity for us to continue to drive greater adoption with those specialists for the foreseeable future. That 14 off of a larger base, so it was more growth quarter over quarter in that segment. So, our sales team from an outpatient perspective is going to continue to focus on driving utilization amongst pediatric specialists as we really start to prime the pump and prepare the general pediatrician market for future adoption.

Unidentified speaker, Canaccord Genuity Analyst, Canaccord Genuity: So given the market movement that just talked about, how do you kind of like sustain and expand that market share as well as like kind of defend against any potential threats or the current kind of like vendors that you could be with?

Katherine Stuhland, CEO, GeneDx: So as we think about our market share today, we talked about 80% of geneticists relying on us. The other 20%, which includes the number two and number three players out there, there’s dozens of exomes and genomes on the market today. We’ve had competition. Competition is not new. And so we have maintained that leading position because of the data asset that we have rapidly continued to expand.

So there’s a few things that set us apart. I’ll go deeper into the data asset, but when a healthcare system or a provider is thinking about using a genetic testing partner, there’s a number of things that they should be considering. One, accuracy and our data asset is what drives our accuracy head and shoulders above any other competitor in the space. Two, scale. So, can you do it fast and can you do it cost effectively?

Three, access, making sure that you have commercial contracts to complement the growing number of states that are covering this from a Medicaid perspective. So, any lab should or any health partner or practitioner should be thinking about those boxes to check and should be checking all of those boxes before selecting a lab partner. Our data asset, I think, is something that is not fully appreciated by most outside of the genetics world. So as we think about what it takes to compete with us for the better part of the the past decade, we have been growing our data asset and it there’s two sides of the data asset house. One is genotypic data, so we’ve run more than 850,000 exomes and genomes, all enriched for rare disease.

So not just running out and running an exome on healthy people. It is specific to the 7,000 rare diseases that exist today. So more than 850,000 exomes and genomes enriched for rare disease. We have been running mom and dad 60% of the time. So, in addition to running exomes and genomes on the child, you’re also needing to sequence the parents as well.

Three, the diversity of our data asset is one of the most important elements. Our we’ve been running our testing ahead of states covering covering our testing, which ensures that we have a patient population at GeneDx that’s highly representative of The US population, which I’m not certain that there’s any other lab in The United States that can say that. Most genetic testing companies are enriched for Caucasian populations. So the genotypic information is incredibly robust and it is bespoke and somebody would have to go and recreate the breadth and depth of that. It’s complemented by our more than 7,000,000 phenotypic data points.

So think about all the clinic notes that come in along with an order on family history, on symptoms, on medical interventions. It’s both of those together that ensure that we’re able to deliver So if we look back four years ago, we had about 270,000 exomes and genomes. Our strategy has been to run really fast to continue to expand that. Today, we sit at more than 850,000, and we’re gonna continue to run fast to ensure that that data moat keeps competition at bay and ensures that we continue to be the preferred lab partner of choice in the pediatric and in the future and the adult setting as well.

Unidentified speaker, Canaccord Genuity Analyst, Canaccord Genuity: Okay. And any use of, like, AI and machine learning to, like, differentiate further?

Katherine Stuhland, CEO, GeneDx: Yeah. So we’re we’ve just gotten started with that. We think about AI on three levels. One, just general business enterprise utilization as any other company is is doing today. Two, in terms of workflow.

So we have deployed MultiScore, which we designed at GeneDx, which is an AI feature that ensures that our geneticists, as they’re getting to a place where it’s time to make a call, it’s serving what the most likely variants are based on the the breadth and depth of our data. So we’re really deploy beginning to deploy AI to simplify and streamline, and that’s actually gonna ensure that we continue to have standardized results and even greater accuracy, we think. The third level of AI, we think, is an untapped opportunity today, which is how do we disrupt the drug discovery and development system as it operates today, put that data asset to work for drug developers who are focused in rare diseases, and that’s something that we’re really excited about in terms of the future.

Unidentified speaker, Canaccord Genuity Analyst, Canaccord Genuity: Okay. Yeah. A lot there we can kind of cover later. But only the Trio testing, so mom and dad and you were saying the whole family basically. So that’s 60% of like volume right now.

You have a rapid offering, two day to five day, and you have less HR integration. Like how is that helping maybe like push that business further? And also, how do you see that mix kind of evolving over time given it’s, higher cost, higher price point probably too?

Katherine Stuhland, CEO, GeneDx: We think it’s important to continue to run mom and dad. It helps us not only gather more and more information from asymptomatic patients. It ensures that we can continue to really accurately characterize what’s happening in the disease, and if you think about a future state where we want to be able to inform as many family members as possible, Being able to provide a valuable service in diagnosing a child with a rare disease actually helps us then think about informing what may be happening with mom and dad in the future or other family members. So, ultimately, we think about GeneDx being as being a really important genomic partner for family health and improving family health. So, we’re going to continue to drive utilization of of trios in perpetuity.

As we think about Epic integration, that’s a really nice way to be able to more cost effectively reach a broader group of clinicians. So, we’re just getting started with Epic in the NICU setting, but we think that will also play an important role as it does for many other diagnostics companies in embedding services more broadly in a health system.

Unidentified speaker, Canaccord Genuity Analyst, Canaccord Genuity: Okay. And then before we kind of dive into like NICU, just talk about what’s the status of the coverage universe for you? So in terms of like Medicaid, the states, the institutional, like commercial, how is that progressing? What are your efforts to sort of gain broader coverage basically for this type of testing?

Katherine Stuhland, CEO, GeneDx: Our reimbursement landscape is actually such a bright spot, especially when you’re talking to new clinicians who have not heard of us. We’re able to say we enjoy wide commercial insurance coverage. 80% of American lives are covered, and we’re able to see an increasing number of states who are covering our services. So, we’re now at 35 states covering Exome in the outpatient setting, 17 states covering rapid genome in the NICU, so in the inpatient setting, and we’re continuing to see really good engagement at the state level. Part of why I think there’s been such a welcome response on the reimbursement side of things, we’re not only delivering a better clinical outcome for these families and for these health systems, but we’re also able to drive better health economics.

Today, the health care system is absorbing the cost of undiagnosed disease. On average, it takes five years for a child with a rare disease to get an accurate diagnosis, which is unconscionable given the fact that we can deliver an answer within weeks, if not days, if not hours. So that problem as it exists today, and just to like really emphasize, think of a two year old child continuing to get sicker and not getting a diagnosis until seven years old. There’s no reason that that should happen today, and so during that five year time, the healthcare system is racking up costs. It’s uninformed, the wrong test, it’s three misdiagnoses, the treatments associated with that, hospitalizations.

So, the problem that exists today is completely unnecessary if we start utilizing this testing earlier, which is part of the reason why AAP guidelines are so important. It’s part of the reason why diagnosing children in the NICU, fewer than five percent of babies in the NICU get a genetic test, which means they are then moving into that outpatient setting In the absence of utilizing our testing in that outpatient setting, it means they are growing up with these diseases. So we have a massive problem that we’re trying to clean up. Ultimately, we want to get to every baby being sequenced at birth and being able to utilize this information future. But we have a very large market as it exists today in terms of undiagnosed children, which is part of the reason why we enjoy broad reimbursement coverage today.

Unidentified speaker, Canaccord Genuity Analyst, Canaccord Genuity: And then on that point, so right now, like, think I it’s like 55% of payers are kind like covering tests like paying you guys. So that’s an ASP of 3,700 or so. I don’t know if that’s like a run rate, right? But look, I think you want to get to like an 80% pay rate basically, right? I think that’s like a goal.

So how do you get there? What do you like how is there a time line for that right now?

Kevin Feeley, CFO, GeneDx: Yes. Today in the second quarter, a little more than half of all tests are being paid. The rest being submitted through insurance channels and facing denials. If you look at the composition of those denials, about half coming from the commercial insurance landscape. In that realm, as Katherine said, about 80% of all commercial lives were already in network and contracted with and most of those payers do have reimbursement policy.

So it’s a matter of calibrating the revenue cycle processes to ensure that we’re avoiding documentation, procedural type denials, adhering to unique medical necessity criteria of each and every payer and plan. And we’ve made tremendous progress at resourcing the team with the technology and skill to do that. And so improving reimbursement from commercial payers for us is much less about getting into any new contract already contracted with every large national payer that there is and more so calibrating workflows and still think there’s far more room to run. It’s a reality, we’ll likely never get paid 100% of the time for our services, but certainly feel like there’s more room to run to reduce denials to improve that reimbursement rate. And then on the Medicaid side with 35 states now covering exome and genome outpatient, go back a year that was 28, go back five years it was zero.

We would expect a continued march towards nearly every state in the country having their Medicaid program cover exome and genome. As Katherine mentioned, there’s great receptivity from those Medicaid administrators around the overall health economic benefit that exome and genome can provide as well as preventative diagnostics and medicines. We’re seeing that come through resoundingly across the 35 states, but also in conversations at state houses in the rest of the population that have yet to pick up coverage. So do expect despite a lot of headline noise around Medicaid to see continued evolution of more and more coverage. Importantly, in those 35 states, we’re seeing a fairly high payment rate towards that theoretical max of about an 80% payment rate in the 35 states with coverage, which I think really is a proof point that they’re seeing the overall value for clinical care, but also the economic value for covering these tests.

Unidentified speaker, Canaccord Genuity Analyst, Canaccord Genuity: Got it. Okay. Then on push into the NICU, Catherine, so you have the SEEK first study, let’s start there. That I guess it like kind of suggested that half of Level four NICU patients should be getting this like rapid sequencing. How is I mean, is that helping with the education process and getting, I guess, more doctors like to do this kind of testing?

Or is there further kind of work to be done to like penetrate further? Just talk about the efforts there in that area of the market.

Katherine Stuhland, CEO, GeneDx: Yes. The SEEK First study has delivered a publication that we think is really foundational in terms of establishing the fact that there are there are children today in the NICU that need to have this testing. So the the work that we did at Seattle Children’s really is, I think, the model for what we need to do in every NICU, and we have an amazing thought leader there, Doctor. Mike Bombshod, who is an advocate talking to many leaders in the NICU space to replicate that. What we showed was that sixty percent of babies in a level three or level four NICU would benefit and so really establishing that clinical case is important.

What I would say equally important though, and I think this is true for any healthcare company today, hospitals are a business and they need to make their business work and being able to pair that clinical message, you go in and you talk about the the data that that have been published. Everyone universally agrees that it will drive better clinical outcomes. What we need to be able to do is also make the case to hospital administrators why it’s going to be good for their business in addition to for these families as they think about their their NICU business. So, we’ve developed a calculator for our reps to be able to go in at the enterprise level and establish taking a look at a number of factors why utilizing our testing is not only better on the clinical care side of things, but it’s going to be a net positive for the hospital. So, we found that it takes a number of things.

It takes data, it takes having the right product, and it takes being able to embed your services in Epic Aura. We’re just getting started. We have three sites that are live with Epic Aura. We’re starting to see volumes come through. We’ll continue to add sites throughout the rest of the year.

So we now think that we have everything that we need to continue to pull volumes through once we get Epic Aura online.

Unidentified speaker, Canaccord Genuity Analyst, Canaccord Genuity: Yes. So NICU is going to be mainly genome, right, not library exome. So as you push into that end market, I guess, like what is the mix going to look like in your business now? I think like 20% or so of the exome genome is genome. So again, there’s like cost implications and stuff in ASP as well.

So I don’t know, how you think about the next the medium term near term kind of outlook given you’re moving around and stuff kind of? Yes.

Kevin Feeley, CFO, GeneDx: You might expect over the next several quarters to see the mix of exome and genome to take on more genome in share as we dive into the NICU. Ultimately, we see a market size for the NICU of about a quarter million tests a year that should be run-in the NICU. It’s going to take time to develop that market, but it’s a large market and yes, would expect that all tests coming out of the NICU would be a rapid genome. So invariably, we’ll start running more whole genome in place of exome. Ultimately, either test is great for our business and either test is a great test for patients.

So happy to have either from a unit economic perspective. I think where you might see that pendulum shift back is as we start to engage the primary care pediatrician, the overall size of that pediatrician market is far larger than even the NICU opportunity that’s in front of us and that will be some mix of exome and genome that’s to be determined at this point.

Unidentified speaker, Canaccord Genuity Analyst, Canaccord Genuity: Yes. So on that point, the AAP guidelines were updated. That’s going to essentially, I guess, hopefully, drive adoption among the like more general pediatricians, guess, not these specialists. So yes, mean, are you given that’s relatively new, what are you doing now to, I guess, drive that penetration and execute on that, capitalize on that, if you will? And also, I think it’s like a roughly two year sort of impact to see that come through the P and L, let’s say.

You know, just talk through why it takes that amount of time.

Katherine Stuhland, CEO, GeneDx: I wish that the publication of guidelines would immediately impact human behavior, but it does take a lot of education. And so and if you also think about just on the very human side of being a pediatrician, all of the different issues that they need to be up to speed on, they’re tackling everything. They’re tackling vaccines, they’re tackling SPF, they’re tackling undiagnosed symptoms, and they have on average about fifteen to eighteen minutes for each of these visits. So so they’ve got a really tough job, and the tough job for us is breaking through and making sure that this is a priority for them. So job one for us is broad education, and so medical education, peer to peer education, webinars being at the AAP conference, which will be at at the September.

So, education over the next several years, they need to go to conferences, whether it’s the national conference or regional, and hear about this over and over again, and we need to have touch points in between them where we’re making it relevant for them. We also want to have conversations similar as we do in the NICU with hospital systems because how might we start really marketing more broadly to a health system about how they can continue to drive better child health utilizing our testing. So, as we think about the education process, we’re just getting started with that. We’re starting advertising in journals. We started a brand campaign in June to really start making GeneDx synonymous with children with undiagnosed symptoms.

So, we’ve begun the investment and we’ll continue to drive overall awareness and education on those guidelines. We also need to build a more seamless customer experience, which has been embedded as one of our goals for for the next several years. So, we started building out what that product roadmap looks like and investing in simplifying it. We need to make it easier and less burdensome for somebody to order our test and we need to take our report that was historically designed for the geneticist, collapse that, simplify it, make it more intuitive and easier for a non genetics expert to understand what the results mean and then importantly, what the clinical care plan is. So the customer experience part and simplifying it, making it more intuitive is part of what we’ve begun investing in.

So that’s the second part. And then the third part, of course, is on the rep side of things, ensuring that our sales rep, our mark our market access folks are going in to to those who need to to know about the guidelines. Our reps are focused on the very few number of pediatricians who are ordering from us today. They have not been a call point for us, so it’s a small number of pediatricians today. We want to go in and understand how do we move them from chromosomal microarray, which fortunately today is a gross margin positive test for us.

It’s about 40 to 50 gross margin percent gross margin. And how long is it going to take to convert them to an exome. So sales reps are in a very surgical way going into those docs. We want to make sure they continue to focus on the job at hand, which is with those pediatric neurologists.

Unidentified speaker, Canaccord Genuity Analyst, Canaccord Genuity: Okay. And just a final question. We’d love to talk about the longer term expanding outside your current market, let’s say. So you have, I would say, three growth drivers I want to focus on: international with the fabric business, interpretation of service and then the adult population then the data asset that you kind of talked about earlier. So maybe with those three pillars, let’s say, areas that you’re really totally focused on right now, what’s the most exciting to you kind of like more near term, let’s say?

Katherine Stuhland, CEO, GeneDx: They’re all exciting. So as I think about the international opportunity, we’ve really put very no resources towards that historically. It’s all been kind of organic growth, and so Fabric is interpretation as a service. It allows for us to go into any region, anywhere in the world where they’re buying sequencers from Illumina, Roche, PacBio, put our interpretation platform and our data asset to work for patients regardless of where they reside, it’s a more cost effective way for us to be able to start driving international growth. And it ensures that we then continue to amass a global data set as well, only further contributing to our competitive advantage.

So, I’ll put that at the top of my list. But the adult population as well, as I said, kids are growing up with these conditions and there are conditions that we all need to be concerned about as we continue to get older, whether Parkinson’s, Alzheimer’s disease. So, ensuring that we can continue to drive earliest possible diagnosis regardless of age until we get to a place where we’re screening every baby at birth and putting our interpretation platform to work for for patients throughout the course of their lives.

Unidentified speaker, Canaccord Genuity Analyst, Canaccord Genuity: Perfect. Okay. Let’s leave it there. Thanks, Katherine and Kevin, for joining us. This was great.

Katherine Stuhland, CEO, GeneDx: Thank you.

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