GeneDx Holdings Corp. Class A Common Stock Wells Fargo 21st Annual Healthcare Conference

Yeah, great. Thanks for having us, Evan. GeneDx has been operating for 26 years now. Main operating lab down in Gaithersburg, spun out of the National Institutes of Health, two scientists who wanted to focus on rare disease diagnosis, and that's what GeneDx does best. We are in the mission of ending what we call the diagnostic odyssey, which is the fact that far too many families face a prolonged period not finding an answer for what oftentimes can be devastating symptoms as disease progresses through the course of a child's lifetime. We have the technology today in whole exome and whole genome sequencing to diagnose rare disease, frankly, close to at birth. The average age of diagnosis when I started with the company more than a decade ago was 15 years old. We've gotten that now down cut nearly in half.

But we have the ability to diagnose children far earlier in age. One in every 10 Americans walking around with an undiagnosed rare disease. It's a large unmet medical need out there, and we're focused on bringing our industry-leading technologies to those patients every day.

Yeah. If you look at the second quarter, it boils down to unbelievable demand for our services. If you look at what we've embarked on, 20 years of serving the expert geneticist community across the globe. It was just 2023 that we moved beyond those experts and into the first of what, over time, will be additional call points, that being pediatric neurology. It's just been since 2024 that we began commercial efforts in the NICU. Later this year, really approaching primary care for the first time in terms of general pediatricians. The second quarter saw a continuation of what has been multiple years of high growth. Demand has never been stronger for our services as we continually bring more and more answers to families. So that culminated in 32% volume growth in the second quarter.

If you look at what we've outlined in terms of the second half of the year, the primary focus will be to continue to grow volumes at that level. But at the same time, turning our attention to really optimizing the revenue cycle to get paid more often for our services as we begin to expand the scope of clinician types, as I said, in the second half of this year, moving to the primary care setting and general pediatrician, and that's underpinned by that strong level of demand we saw in the second quarter.

Yeah, I mean, what was most exciting, the second quarter driven primarily by those markets we have most experience with. So geneticists, ped neuro, and the NICU driving most of that 32% growth. That was on the heels and an acceleration of the 30% year-over-year growth we saw in FY 2025. The innermost core of those channels, geneticists, we're serving 8 out of 10 expert geneticists in the U.S., but even they still have large untapped patient populations. As you think about what will be multiple years ahead of putting down multi-gene panels and single-gene tests and replacing them with exome and genome, still about only 30% penetrated in the patient size across the geneticist community. You compare that to pediatric neurologists, about 1 in every 3 pediatric neurologists now are ordering from GeneDx, and that's after only 3 years of entering into that call point.

But still, in terms of patient penetration, in mid-teens in terms of patient penetration within pediatric neurology. Then the NICU, a massive untapped opportunity. There is about 800 level 3 and level 4 NICUs in the U.S. About a third of all those are active ordering accounts for GeneDx. We think over time, there ought to be 225,000 tests that come out of the neonatal intensive care unit in the United States. That is underpinned by a study called SeqFirst, we put out in partnership with Seattle Children's and University of Washington, that called for the fact that roughly 60% of babies in the NICU could have a meaningful change in care with intervention with a rapid genome. The reality today is only about mid-single digits of all babies in the NICU are getting a genetic test, let alone a rapid genome.

And so significant headroom in even those most experienced channels we are operating in. With geneticists, it is about continuing the conversion cycle from multi-gene panels and into exome and genome. Within pediatric neurology, it is about reaching the second two-thirds of doc activation. Then in the NICU, it is really boosting up that utilization rate over time. So the 32% growth in the second quarter really driven by those three channels alone, and that is before seeing brand-new growth curves start in new markets. The largest of which is general pediatricians on the back of new American Academy of Pediatrics guidelines that came out in 2025 that called for either exome plus chromosomal microarray or whole genome as a first-line diagnostic for children with global intellectual developmental delay. That is 600,000 kids annually. In February, we launched into a new product offering a GenomeDx Prenatal genome.

That is servicing the prenatal market, really with a focus on maternal-fetal medicine. About 4% of pregnancies in the U.S. show up with some form of abnormal ultrasound that make them an ideal candidate for a prenatal genome. So again, that is a brand new market to us just this year. I think those are just two examples of significant growth curves ahead on top of what is untapped potential, even in our most experienced markets.

Yeah. It is the right area to ask questions because one of the single largest opportunities we have here at GeneDx is to improve on. The reality today is in the outpatient setting, we are collecting on one out of every three cases for exome and genome, and we ought to be able to do much better than that. As you mentioned, in terms of overall mix dynamic, we did see outpatient genome mix decline from 40% down to 32%. That is not an indication of overall demand, but more so some measures we are taking as a leader in this space to properly moderate and manage through some mix dynamic. It really was impacted by the introduction of a new product offering we launched mid-February, that being an Exome-to-Genome Reflex. So active engagement across the geneticist community in particular to speak to them about this reflex offering.

It gives the physician an immediate answer or near immediate answer, the quickest answer possible in terms of our leading exome. Then, if relevant, a fast follow with an additional report with the genome content. I think what you saw from the 40% in the first quarter of genome outpatient mix down to 32% was direct impact of uptake by that reflex product, which is being really well-received out in the marketplace. Overall, we would expect mix levels to maintain around these levels, potentially genome in a range of about 30% for the second half of the year. But again, that is not a reflection of overall demand, but more so we think the reflex product being accepted as an appropriate bridge to allow more time for us to reduce the cost curve on genome over time.