You probably remember bits and pieces from your high school biology class. Deoxyribonucleic acid, or DNA, makes up the building blocks of life — including you. In tandem with the influence of your environment (the nurture to your nature), it makes up every element of who you are.

It’s been 157 years since Friedrich Miescher discovered the molecule and 73 since Watson and Crick discovered its double helix form.

But in the last quarter century — especially since the Human Genome Project wrapped in 2003 — we’ve seen a remarkable acceleration in the rate of scientific progress. We not only understand that DNA exists and the structures it comprises; we now also understand, albeit in a relatively rudimentary way, how to edit or transform it in a clinic.

There are miracles in medicine everywhere with those with eyes to see: entire diseases erased from humanity, cancer mortality rates cut in half, and miracle cures for ailments that once proved terminal. Nowhere has that been more obvious than in genomics, which is by all means still a young and burgeoning field.

That leaves few worlds left to conquer. And where we embark next might well be the final frontier: curing the world’s diseases. However, before we can do that, we need data and diagnoses.

This is where GeneDx, a genetic testing and genomic diagnosing company, is standing apart. Since inception, it has tested over 2.5 million patients, many of which are newborns. In the process, eliminating the lag between complications and diagnosis for families. In the process, it has become a standout among health care firms, forecasting that full-year 2025 revenues would rise 54% year-over-year.

It also comes with another tacit benefit from its exome and genome tests: assembling a robust library, which can be helpful for future diagnoses and even eventually producing treatments. With this in mind, we turned to GeneDx CEO Katherine Stueland to find out more about the quiet revolution in newborn genetic testing.

Here’s what she had to say:

Retail investors have really been juggling biotechs and health care stocks of late, especially the ones around the weight loss or CRISPR theme, but for those who might not have a lot of background on GeneDx, what’s the 40,000-foot view?

Absolutely! Well, I appreciate the opportunity to share our story. The company was founded 25 years ago at the NIH, and we diagnosed more children with rare diseases than anyone in the world. And the reason that we’re so expert in doing that is, we’re able to take a genome’s worth of information and distill it into a clinically actionable answer for a family who may have a child who has unexplained symptoms. And so, we have amassed an enormous amount of data. Our data asset is called Infinity.

And what we have been able to do over the years is provide meaningful answers to parents of kids with any number of rare diseases. On average, it takes about five years for a child to get diagnosed with a rare disease, and our mission is to try to eradicate that five-year diagnostic odyssey because we can provide an answer from a genome in as fast as 48 hours.

Most insurance companies are covering this, so the company’s just been relentless in our mission to try to get as many families answers quickly and cost-effectively as possible. I joined the company four and a half years ago to really open up more access and make sure that we can help as many families get the right answers for their kids as possible.

One of the things that I know is top of mind is misdiagnoses and the possible impacts to clinical trials or stress on the health care system. Over the past year, your revenue has grown at an impressive clip, largely because of the value of this testing. I’m wondering if we can talk about that journey and how that’s contributing to your business growth.

Yeah, so I think it’s important as we frame up the issue. There’s that five-year diagnostic odyssey that, about a decade ago, was probably a 10 to 15-year diagnostic odyssey, so we’re making a lot of progress in reducing the time to diagnosis. Rare disease still costs the United States healthcare system about a trillion dollars annually, and a significant portion of that is the lack of an accurate diagnosis.

So, if you think about that five-year diagnostic odyssey happening to these families, there’s disease progression, there are tests that usually are not a genomic test that are utilized to try to get to an answer — think about brain scans, MRIs, CAT scans. There are hospitalizations. There are trips to the ER. There are trips to many other doctors and treatments that are associated with the wrong diagnosis.

So we’ve got this total family health crisis that is going on, yet if you use a test up front like ours, if you use an exome or a genome test, you can efficiently rule in or out whether or not there is an underlying genetic diagnosis. Now, when we look back, a few decades ago, we wrapped up the Human Genome Project.

For some time now, I think we’re seeing really incredible and inspiring progress that’s been made on the oncology side of things, where we are diagnosing disease at the molecular level, and then we’re able to give a patient the right drug versus chemotherapy, which was just kind of blasting broadly the patient’s immune system.

In the rare disease space, we’ve been behind, and so what GeneDx is doing is really accelerating time to the gene-specific cause of disease. What we’re hoping to do now is fuel this entire ecosystem by partnering with biopharma companies who may have a gene therapy or a gene editing technology where we can actually start making sure that diagnosing with a rare disease has a pathway to a gene-specific therapy.

Now, there’s a whole host of other interventions that are also available to these patients. It doesn’t always mean that there is a clinical trial or an FDA-approved therapy available to them — and about 95 percent of the time there’s not — but there are other actions that families can take. It could mean a change in diet. It could mean occupational therapy, speech therapy, physical therapy.

It could mean connecting with other families, which is often what occurs. The sense of community for these gene-specific diagnoses is hugely important because they’re able to share what’s worked for them and what hasn’t worked for them in the absence of therapies. So there’s so much action that can be taken once you get the accurate diagnosis, and so we’re trying to really draw the earliest possible line.

We’ve seen over the past several years we’ve been able to get the cost down for our testing. We’ve been able to get our turnaround times down. We’ve been able to make sure that more and more state Medicaid plans are covering the test, and the reason payers are paying for it is because it eliminates unnecessary spend for the undiagnosed disease.

Something that’s really exciting about this is getting an answer to that big question, “what is the problem?“ I’m reminded of this episode of Adam Savage’s Still Untitled podcast where he interviewed Joe DeRisi, a virologist who helped sequence SARS. His whole attitude was to sequence everything and find what you are looking for. It seems like a no-brainer, but sometimes, it seems like common sense isn’t always the answer in healthcare because of cost or perceived value.

How are you communicating this value to general pediatricians or specialists and increasing access?

Absolutely. And you’re right, there’s a lot of education that we have to do broadly. There’s education to providers, education with payers, and education of parents. I think it’s remarkable whenever I’m talking about the work that we do, I get stories from parents who are suffering from this diagnostic odyssey and they’re looking for this sort of technology to help them.

So, we’ve got to educate providers on the fact that their impression of whole genome sequencing is outdated; it no longer takes months. We can turn around a test in the outpatient setting in 48 hours, so we’ve made it much quicker than what was the case just a few years ago.

We’ve also made it much more affordable. 80% of American lives are covered through our commercial and Medicaid contracting. I think the reason why payers have responded is exactly what you described. We are able to eliminate the wrong tests. We’re able to eliminate some of the hospitalizations and the misdiagnoses in an outpatient setting.

So, for most of these kids, there’s a cost savings. In the inpatient setting in the NICU, there’s a cost savings of $30,000 to $40,000, and those numbers don’t contemplate the true burden as you think about lost productivity for the parents. They’re missing work to take their kids to all of these doctors’ appointments; they’re staying home from work when their kid is not doing well. So there’s just a whole host of other factors that are not contemplated that make those numbers on the conservative side of things, but the health economic data that we’re able to put in front of payers really states the case that this is better for the business of healthcare as well.

It helps ensure that State Medicaid dollars are going further because you’re able to diagnose these diseases earlier. Today, we’ve got about 36 states that cover exome or genome testing in an outpatient setting, and 17 states that are covering it for the NICU. We’re actually starting to see the State of Florida with the Sunshine Genetics Act where they’re going to be really moving forward with genomic newborn sequencing — screening healthy newborns — and that’s based on some work that we’ve done here in New York State with a study called the Guardian Study.

What we’re seeing is this wholesale shift from using single-gene and multi-gene panels to now being able to do a whole genome. We’re seeing a shift from using this as a test of last resort to now using it much earlier. And we’re just starting to educate pediatricians because the American Academy of Pediatrics has now updated guidelines to say pediatricians should be using that. And pediatricians are the first line of defense for any parent.

I am very interested in understanding, aside from the communication of the value taking place here, how this ultimately becomes a first-line test, especially in the patient setting. When do we get to the point where this is just the natural, sensible thing to do? Because it seems, at least at this point that rather than going in and just finding the answer, there’s a lot of poking around the problem.

Right, it’s exactly right. We are hopeful that these AAP guidelines over the next 18 to 24 months really shift the adoption of this product. That way, if there’s a child who’s having seizures, you should be utilizing an exome or a genome right away just to roll in or roll out whether or not there’s a genetic condition. So these guidelines are really important for putting an end to the trial-and-error that’s totally unnecessary.

In the NICU, fewer than five percent of babies get a genetic test. Actually, you should talk to Dr. Mike Bamshad at Seattle Children’s. He has been the principal investigator for a study that we’ve done called SeqFirst, where they’ve done broad adoption using whole genome sequencing in the outpatient setting. What he found was that 60% of babies in the level 4 NICU would benefit from genomic testing. So the power of that is real, and he’s on a mission to educate other NICUs so that they can have the same sort of results that he’s been able to have.

But it really comes down to education and making it easier for more providers to have access to our testing. So we’ve invested in Epic Aura, making sure that our test compendium is a part of Epic Aura and that we have activated as many health systems as possible. We started that work this year. We’re working on simplifying our workflow as well to make it an easier experience.

I think at the end of the day, sometimes we forget that doctors are consumers, too, and we’re all used to the immediate gratification of one-click ordering, whether it’s Amazon or Shopify. We’ve got to have one-minute ordering for testing as well, so that’s an effort that we’re investing in now to be active in 2026.

So it’s education, it’s making it a better customer experience, and it’s making sure that parents also understand that they have the ability to ask their provider to order this test. There’s nobody more motivated than a parent to get an answer, and so we have a really unique opportunity to ensure that they know that this is within reach and it’s likely covered by their insurance as well.

This is obviously so new, but it seems like a lot of these new technologies have been around for a while and are just getting cheaper now. You see this with a lot of technologies where access rises and cost falls. Your revenue is up something like 65% year-over-year.

How do you maintain that momentum and continue to capture spend without lessening the access to the products? And then, how do you continue to evolve your business to position for demographic shifts, e.g., fewer births?

That’s exactly what we think about every day. I feel extremely fortunate. I joined a company four and a half years ago, and they had already started investing in the technology and the strength of the testing to ensure that we had a clear path to continue to reduce our turnaround times.

We’ve been moving with purpose to expand your utilization of testing. We’ve been able to continue to expand our gross margins, and we achieved profitability. Profitability enables us to really continuously reinvest in improving our diagnostic yield — continuing to really drive the best-in-class clinical product that we have. So there are different sequencing technologies that are being created and innovated in our ecosystem. There’s obviously Illumina, PacBio, Roche — they’ve got some new sequencing capabilities as well — so we’re able to really take a look at how we continue to enrich our product to drive a higher diagnostic yield while deploying AI to make sure that we can drive down our cost of goods.

We need to continue to really automate that workflow because, as our volumes increase, even if we didn’t have the benefit of AI, we couldn’t hire our way into our future volumes. There just aren’t enough genetics experts that exist in the world to keep up with the volumes that we’re going to continue to see coming into our labs. So, AI is a really important element of how we’ll continue to drive down the cost of goods as our volumes increase.

When I think about the market opportunity, it really comes down to the fact that the underutilization of our testing is evident in that diagnostic journey and in the cost that is being incurred in the healthcare system. If you just look at one customer segment, pediatric neurologists today, we’re only about 14% penetrated into the patient population there.

If you think about children who have been diagnosed with developmental delay or intellectual delay, there are 600,000 that we can now diagnose so much earlier. So there’s no shortage of patients. As I said, fewer than five percent of babies in the NICU are getting a test, so there’s no shortage of children that can be impacted. And when we think about a future of screening everyone at birth, we’re going to be able to continue to get the cost down to ensure that the health economics make sense.

What I can tell you about the Guardian Study, which is the largest newborn screening study that’s been done — including more than 20,000 babies here in New York state — we were able to find a positive diagnosis in more than three percent of those babies. And we went back and looked to say, for the conditions that we’re diagnosing, what was the average age of diagnosis without newborn screening? It was seven to 11 years.

When you think about the health economics behind that, which we’re eager to quantify, avoiding seven to 11 years of unnecessary disease progression and all of the healthcare costs and lost productivity associated with that is undoubtedly immense. We have a lot of work to do with children who are symptomatic today, but we look forward to a future where we can actually use this information more proactively and predictively to really get to a place where we can avoid unnecessary disease progression.

Let’s dig into how that information you’re collecting is ultimately used. Since we’ve talked so much about the actual impact on the individual patient directly, what is the possible therapeutic action here with the data that you have?

As we think about the data, the clinical actionability, and the biopharma opportunity — this is one of the few industries where we have a 90% failure rate in pharma and drug development. We want to flip that upside down and get to a 90% success rate. I think there’s some really encouraging commentary coming out of the FDA these days in terms of really creating a more efficient process, particularly for children with rare genetic diseases.

So, there’s not too much of an arduous journey for these biopharma companies. I’m hopeful that we can get to a place where, for rare genetic diseases, we maintain really high safety standards but give more freedom to parents to choose when it comes to the advocacy side of things. For some of these families, unfortunately, these rare genetic diseases can mean that they’re in a race to try to save a life here. These parents are faced with some of the most heartbreaking decisions. I’ve talked to parents who are doing everything they can to see if there might be a trial that can save their child’s life.

I’m also hearing from biopharma companies that have gene therapies in the clinic where they’re able to actually see children go from non-verbal to verbal. So there are a lot of reasons for hope. What that means is we’ve got to diagnose as early as possible. The benefit of looking at a genome’s worth of information rather than a small slice — whether it’s single-gene or multi-gene panels — is that we at GeneDx are actually making new gene-disease discoveries.

To frame that up, if you think about epilepsy, there are 768 genes associated with epilepsy. Our ability to continue to increase that number means that as new biopharma companies are discovering drug targets that may be interesting to them, it just changes the game in terms of the patient population. What we’re finding is that the more we’re testing, the more prevalent these diseases actually are. We’ve been able to find that in some cases, the prevalence of disease might be three to five times larger than what was originally thought, and that is extremely valuable for a company that’s trying to raise money and get investors to back them.

So, we’re working with a great sense of purpose to ensure that the data and the patients that we’re testing are connected with as many options as possible, and that the data are being put to work for these biopharma companies on behalf of patients. The sooner we can get data in front of the FDA, the sooner it means more hope for more of these patients.

You mentioned the 90% failure figure. For a lot of companies trialing a drug, missing a shot on goal might be their only go at trying to solve a big problem, like an obscure disease. I’m curious about obstructions — maybe not just from a research or regulatory standpoint, but also from a cost standpoint. You mentioned that your tests are currently not available to everyone as an outpatient. Do you think that’ll change? And once it does, what does that look like?

When it comes to the core business and the core problem that we’re focused on — which is ensuring that there is not unnecessary disease progression and that people can get a diagnosis as soon as possible — I have yet to meet a parent who we have diagnosed whose moment of diagnosis was not one of relief because now they know what’s going on with their child. When we think about our core mission of getting the earliest possible diagnosis, what are the obstructions?

How do we get doctors to utilize this testing earlier and accept the fact that there may not be an FDA-approved therapy? The utilization of our testing is proving that we can drive better clinical outcomes and a better healthcare business for payers, for State Medicaid, and for employers as well. I’m often asked about expensive gene therapies or failures, which are absolutely devastating in the pediatric population. My response is that the status quo today is totally unacceptable: We are letting these kids not just be sick, but get sicker. We have to try to give them a chance to live the longest and healthiest life possible.

I had multiple family members who passed away from cystic fibrosis many decades ago. Decades later, people are living well into their 50s and 60s with cystic fibrosis thanks to patient advocates raising awareness and money, and being relentless in their pursuit of getting biotech companies like Vertex or others to keep trying until they succeed.

Sometimes, it’s going to mean failures along the way that are heartbreaking, but the status quo today is not serving any of us well. We’re just one part of what hopefully becomes a sense of hope for more families. It goes back to this: You can’t treat it if you can’t diagnose it, and we’re going to continue to diagnose as early as possible to give these families help.