Hey. Kick it off. I'm Tycho Peterson from the Jefferies Life Sciences Team. It's my pleasure to introduce our first company this morning, GeneDx. With that, I'll turn it over to Katherine to make some introductory comments.
Amazing, and thank you to the entire Jefferies team. Thank you, Tycho. It's been a tremendous year for us at GeneDx, and we've had the great pleasure of spending a lot of time with new investors to the story, and I would say that the year has really been that the hallmark has just been consistent execution in realizing our mission. Our vision, just to ground everyone, is being able to diagnose any genetic disease as early as possible, and the reason that that's so important is the sooner you can diagnose disease, the sooner we can intervene with some sort of treatment or other medical intervention, really to be able to cut off disease progression.
And so we have our sights set on being able to get to a place where we can screen every newborn at birth and be able to really provide that information as early as possible. We've done some important foundational work with the largest study that's been done to date in newborn screening. But today, the reality is that many of these children are bouncing around the health care system and going through a very traumatic and costly diagnostic odyssey. So the standard of care today for many of these kids is to go into the pediatrician's office. The families are going in to explain what symptoms are happening. And over the course of, on average, six to eight years, these kids are going through a series of specialists, trial and error with different tests, different brain scans, and oftentimes not getting diagnosed.
And so we're trying to really shift the standard of care from this trial and error approach to medicine and diagnosing disease to being able to utilize a definitive test upfront as early as possible at presentation of a first symptom in order to ensure that we can get an accurate diagnosis. And as I said, really be able to cut off that disease progression as early as possible. The costs associated with this are massive to the health care system. And we're able to cost-efficiently provide these diagnoses and be able to connect patients oftentimes with the next steps in terms of clinical trials, FDA-approved therapies, and connecting with other families that may be able to really help put them on the right path moving forward. To give you a frame of reference, these kids are very sick.
There's usually not just a presentation of one symptom, but there are several symptoms that are manifesting that are creating this confusion in the health care system and making it difficult for oftentimes the general pediatrician to diagnose. The good news is we're making it easier through driving down the costs, opening up access to testing, and just making that process for ordering a test and getting an answer easier for any sort of provider so they do not have to be reliant on waiting for a medical geneticist to be able to get an accurate diagnosis. The market opportunity for us is large, and it's going to continue to grow as we are able to really continue to drive a different standard of care. Today, we're focused on the pediatric segment and rare disease, and as a frame of reference, one in 10 Americans has a rare disease.
Half of them are children, so while we talk about rare diseases, they're actually quite common, so think about epilepsy, autism, developmental delay, missed milestones. We're focused on today the pediatric segment, but ultimately, we want to really be able to make genetic testing synonymous with a symptom, and that's going to mean that as we think about the market, it's going to continue to grow from a conditions-based approach to diagnosing medicine to really making symptoms synonymous with a genetic test and GeneDx synonymous with providing an accurate answer. In the case of epilepsy, for instance, a child's going in with a seizure or in some cases, 50-70 seizures a day, and so we want to be able to, as quickly as possible, ensure that any provider who may be seeing a child with a seizure is thinking to order our genetic test.
Over the course of time, we want to expand to a broader group of clinicians. So think about pediatricians, adult conditions, and be able to ensure that these answers can be made available to anyone who may have a genetic disease as early as possible and ultimately getting to a place where we can intervene early through newborn screening. As I mentioned, we have a landmark newborn screening study that was just recently published in the Journal of the American Medical Association. It's called the GUARDIAN Study , where we were doing whole genome sequencing and continue to do that study in New York State on healthy newborns. We were able to identify through screening for 450 clinically actionable conditions, a pathogenic rate, so a positive finding in 4% of these newborns before a symptom was being developed.
And so ultimately, we want to be able to drive a much broader market in order to get ahead of disease progression and be able to ensure that everyone has access to genetic information at every stage of life, which we believe is a much larger market opportunity than even the estimates that we have here of our ability to drive a $30 billion market opportunity. But today, there's many children who are in the health care system and who need access to testing. And we talk about this conservatively as being a $3 billion market opportunity. We actually think as we move to that symptoms-based approach to diagnosing disease that it's much larger than the $3 billion that we're talking about. So two-thirds of that market, we're focused in the outpatient setting. So think about, as I said, children with epilepsy, autism, or missed milestones.
That's been the predominant focus for us with our clinical exome. 80% of clinical exomes run through GeneDx today. So we are the market leader. But we're starting to translate that leadership into the NICU setting using our rapid whole genome product where we can deliver an answer to babies in the NICU within days. That market opportunity is going to be realized more so next year as we deploy Epic Aura and make it easier for the neonatologist to have the bedside ability to just click to order our testing. So our rapid whole genome is going to be an important component of our growth as we think about 2025 and beyond.
In order to ensure that we continue to open up access to an ever-growing group of patients and really realize that larger market opportunity, we're introducing new and novel ways to break down barriers to access to our testing, so we just recently announced a partnership with Genome Medical, which allows any parent to be able to reach out to Genome Medical, which has a network of genetics experts. They can order a test in order to ensure that their child has access to that information sooner, and we think this is a really important opportunity to be able to shift the way that we're opening up access for more and more families who may find it difficult to get access to testing generally in the health care system. We also announced this week that we have a new data visualization tool that is available to biopharma partners.
So in order to continue to drive not only a diagnosis, but also be able to put the power of biopharma clinical trials and FDA-approved therapies to work for these patients, we want to be able to partner effectively with biopharma companies to identify these patient cohorts. And ultimately, we want to get to a place where we can inform a more efficient approach to drug target discovery, accelerate clinical trial enrollment, and ultimately get to an FDA-approved or regulatory approval path in terms of the therapeutics opportunity much faster. Today, there's a 90% failure rate in drug discovery and development. We want to help biopharma companies realize through our industry-leading data set of 700,000 clinical exomes, all enriched for rare disease, as soon as possible. Just to wrap it up before we move to Q&A, we did announce with our Q3 that we achieved profitability.
We've continued to drive our revenue growth quarter over quarter, continue to drive down our cash burn and meaningfully be able to improve our gross margins and raise our guidance for the year to $284-$290 million for revenue. We'll continue to expand our gross margins and ultimately be able to realize a much larger market opportunity that has the benefit of being what's best for patients and also what's healthy for our business as well. So with that, we can have a fireside chat.
Maybe we'll kick it off on just one on mix shift. Whole genome, whole exome continues to move quickly. I think you talked about a third of tests fall into that category. Talk about that mix shift going forward, how you think about that and continued improvement and reimbursement on that front as well.
Certainly. So when we talk about mix shift, we're talking about increasing the focus on exome and genome sequencing as the core testing capability that we have. About a year ago, we had 1,000 tests on our test menu. We have since reduced the number of tests by about 70%, really shedding some tests that, frankly, were not the best tests for patients and also were not great for our P&L. So our entire team is focused on driving exome and genome testing. We get 70% gross margins off of that testing. So it's not only what's best in terms of the most efficient test, the most comprehensive test, and the most accurate for patient care, but it's also really good for our business. So we're continuing to drive meaningful mix shift from non-exome testing to exome and genome testing.
We'll continue to see that drive forward in 2025 as well.
Maybe just to follow on just ASPs there, I think you're $3,100 in the third quarter. Talk a little bit about payer dynamics, maybe some of the steps you've taken around whether it's preauths or other things to kind of smooth the process with payers and how you've done that as well.
Yeah, so some hard-fought wins there over the last year, year and a half. That $3,100 is sort of after all denials and education from payers. It includes large payers as well as Medicaid programs. About 40% of volume of commercial payers, about 45% or so approved. Medicaid payers, what we've seen is a fairly steady and aggressive uptick of reimbursement coverage across Medicaid programs. We're up to 31 states now that we're actually now in the 70%. We were around the whole genome patient group for the last five years. Those numbers were close to zero. And so we're seeing a natural reduction denials as more and more states realize the value proposition of policy coverage. Now, with 31 and 14 states respectively, there's still a long way to go to get the FDA approval. Ultimately, we get there over time. We're servicing samples from states that have coverage.
Still a large portion of denials just simply coming from us as a state . On the commercial payer side, roughly 55% payment rate today has radically improved. If we were to go back 18 months, we were only getting 35% of the time in that 12-quarter rolling data. We need to create upfront revenue cycle processes to match individual payer medical necessity and other requirements for denials. Really pleased with the progress, but also feel that a 55% payment rate still leaves much room to go. I think the critical max of 100% may not be plausible, but certainly believe that approaching something like a 75% payment rate is possible over the next several years and a large gap between the average reimbursement rate.
I guess, how do you think about the tailwind from some of the Medicaid wins, some of the state wins?
Yeah, from the time a state implements Medicaid policy, what we typically see is a diffusion of market activity increase. How the enhancement in Medicaid coverage worked out for operational mechanisms in order to submit claims, so roughly a two-quarter, six-month lag between when you might see an announcement that a state has picked up coverage and the realization into revenue for us. We just announced four new states that have been able to pick up coverage in the third quarter, and so what that means is there's still some uplift to come on some of those states. Not fully baked into the results.
I'll just start without asking about RFK. So why don't we talk about the new administration? Just talk about you spent a lot of time in DC, right, and kind of working with lawmakers. How do you feel about the current political backdrop? It seems like you're relatively protected and, in fact, maybe at an advantage with the new administration.
Yeah. So I think everyone is bracing for what's ahead. But I would say the experience that we've had as a company, this is a unifying issue. I've spent a lot of time with policymakers on both sides of the aisle. And I think part of what's so unique about the space that we're in, theoretically, it's very difficult to argue with diagnosing children with rare diseases. These are devastating diseases. And once you start talking, whether it's to investors or to lawmakers, the impact, the personal impact that it has on many of them is very real. So I spend time with policymakers who have lost a child at age four, who've lost a child at four months to not having an accurate diagnosis. And so I think what we have seen is this continues to be a unifying issue for us. We're going to continue to educate policymakers.
The reality is the health care system is wracked with costs because this technology is not being used. So the health economic argument that we have is incredibly powerful and will continue to amplify that not only through our own data, our own words, and our own commitments to be able to put an end to this diagnostic odyssey for these families, but we also have a very powerful and vocal group of parent advocates who are out there, many of whom are policymakers themselves. So we view this as really being a neutral, if not a positive environment for the company moving forward.
Maybe just talk about your sales channel on the enterprise side, relatively small team kind of targeting NICU, obviously broader commercial sales force. How do you think about the size of the sales force, where you need to invest, and then what's kind of the point of friction as you go and try to push into these sales forces?
So we have a small sales force on the enterprise side of things. We've got about five sales reps who are focused on the NICU opportunity. We have 54 sales reps who are selling in the outpatient setting. And they are both sharing a team of about nine medical science liaisons, all of whom are our clinical experts. So our predominant efforts have been in that outpatient setting. We feel like the 54 sales reps is probably about the right size for us as we continue to drive both new customer acquisition as well as same-store sales with existing customers. So we've been able to really fine-tune the sales force. They're incentivized for exome and genome only. They have a clear line of where there is not only volume, but where there's good payer coverage to ensure that we can get paid for that volume.
So we'll continue to drive our outpatient utilization through that team. The NICU opportunity, which will be amplified next year through Epic Aura, as I mentioned earlier, and easier ordering in that NICU setting. We've got five sales reps who work with our Chief Medical Officer really to go in and sell to the C-suite. We think that's going to be an important opportunity not just in the NICU, but starting in the NICU and then being able to expand into health system broader utilization in time. So the American Academy of Pediatrics guidelines are 10 years out of date. They drive pediatricians to utilize a test called a chromosomal microarray upfront. When those guidelines are updated, we'll be poised to be able to drive population-scale utilization of our testing through those health systems and through that enterprise sales channel.
So we're in the early days of establishing those relationships, but we're really excited about the opportunity to be able to provide value not just clinically, but from a cost savings perspective in the NICU. And then in time, once we're ready to be able to drive utilization in the broader general pediatrician setting, we'll have those relationships already intact.
Maybe we can just touch on the margin and profitability side. It's great to see profitability in the third quarter. You've done a lot on the workflow front. Maybe just touch on some of that. And then obviously, there's still some opportunity to improve those lines.
Yeah, I think what you're seeing is beyond just top-line revenue growth, margin expansion coming from all three of mix shift into the higher margin exome and genome product lines, average reimbursement rate on those product lines improving, but also we continue to bring down cost per test to produce those exome and genome products the way I think about the overall COGS stack. About a third is in input costs, reagents. A third is in wet lab extraction of DNA and sequencing, and then a third in bioinformatics and dry side analysis steps. Lab highly automated and robust. Process improvements over the last several years. A lot of focus into that wet lab. I'm certainly proud of the cost reductions we've been able to make to produce.
We are still very manual steps, though, on the latter part of analysis and interpretation and tracking to incorporate all those things that absolutely could benefit in the future from further automation of the models and AI and genome build. So over the next several quarters and years, still believe there's a need to increase cost per test in that regard.
Talk about maybe some of the work you're doing in epilepsy, right? And obviously, newer opportunity for you guys, so.
Yeah, epilepsy has been a really important focus for us. There are guidelines that support utilization of exome to diagnose epilepsy, both from ACMG and NSGC, which are the governing bodies of genetics providers, but further supported by the American Epilepsy Society. And this is Epilepsy Awareness Month, so we have a lot of work going on to increase awareness of the importance of genetic testing in epilepsy. But I think some of what we've been able to do by way of introducing a new model is a really great way to open up access to more testing for more patients. So we've launched a program for any child 18 or younger who has shown up with a symptom, usually a seizure, to run an exome on those children, drive 100% of the volume through commercial insurance.
And then for any denials that may come through, we have biopharma partners who are subsidizing those denials. What that does for patients, of course, is open up access. We're finding more patients who have a pathogenic finding than what an insurance company may have previously covered. We're ensuring they have the diagnosis. Biopharma companies now have more patients for clinical trials. And ultimately, we're able to work with those biopharma companies to amass data to be able to go back to insurance companies to talk about expanding medical policy. So it's important from a patient-centric perspective.
It's a great way to be able to bring the ecosystem of biopharma partners in to be able to ensure that we're getting paid for more of our services and ultimately have this full cycle of not only a diagnosis, but being able to connect patients with that next step, if it's a clinical trial or an FDA-approved therapy.
Maybe just stepping back on biopharma overall, talking a little bit about momentum in that business. I know you've got some new tools available.
Yeah, so we now have the ability to really give access to biopharma companies the patient database that we've built over the past 24 years, all enriched for rare disease. So we've run more clinical exomes than anyone. There's 700,000 patients that are represented. It's a diverse data asset, which is hugely important to biopharma companies. And so they're able to take a look at different patient cohorts, genotypic information, phenotypic information. They're looking at different age groups, different backgrounds. So we're excited to be able to put the power of the data asset that we've been able to utilize internally to benefit more patients now, be able to put that to work for more biopharma companies to accelerate and improve the way that they're developing drugs.
We'll close on the TAM side of things. Obviously, early days, big markets. Talk a little bit about maybe penetration of the current TAM, how you think about how far out it will be before most newborns are sequenced in the NICU, and then how do you think about moving beyond rare disease, moving beyond pediatrics?
So the pediatric opportunity today, as defined by current medical practice, is about $3 billion. We think that that is a conservative number, mainly because it's being used still too late in the process and it's being underutilized. So we've talked about the pediatric neurology segment. We're only about 12% penetrated in the pediatric neurology segment, and that does not include the broader general pediatrician opportunity that's ahead. Ultimately, though, we want to get to sequencing every newborn at birth. The Guardian Study that we published is the largest to date. And being able to provide a diagnosis before a symptom is developed and ensure that it is clinically actionable, that ultimately is going to be the game changer.
So we think that that opportunity, which realistically is in the five-plus year time frame, we have a lot of commercial work to do to figure out exactly how to deploy it at the population-scale level. But that opportunity is ours to be able to realize as soon as possible in order to really change the paradigm and stop the progression of disease that's unnecessarily happening today.
Great. I think we'll leave it at that. Katherine, Kevin, thank you.
Much.