Good day, and thank you for standing by. Welcome to the Sema4 to acquire GeneDx conference call. At this time, all participants are in a listen-only mode. After the speaker's presentation, there will be a question-and-answer session. To ask a question during the session, you will need to press Star one on your telephone. Please be advised that today's conference is being recorded. If you require any further assistance, please press Star zero. I would now like to hand the conference over to your speaker today, Joel Kaufman, Vice President of Finance and Corporate Development. Please go ahead.
Thank you. Good morning, everyone. Thank you all for participating in today's conference call. Participating for the companies today will be Eric Schadt, Founder and Chief Executive Officer of Sema4, Katherine Stueland, Chief Executive Officer of GeneDx, and Isaac Ro, Chief Financial Officer at Sema4. Earlier today, Sema4 announced that it has entered into a definitive agreement to acquire GeneDx. A copy of the press release is available on the company's website. Before we begin, I'd like to remind you that management will make statements during this call that include forward-looking statements within the meaning of federal securities law, which are made pursuant to the Safe Harbor provisions of the Private Securities Litigation Reform Act of 1995. Forward-looking statements are predictions, projections, and other statements about future events that are based on current expectations and assumptions, and as a result, are subject to risks and uncertainties.
Actual results may differ materially from those expressed or implied in the forward-looking statements due to a variety of factors. Any projected financial information presented in this call is for illustrative purposes only and should not be relied upon as being predictive of future results. The inclusion of any financial forecast information in this call should not be regarded as a representation by any person that the results reflected in such forecasts will be achieved. During the call, we may discuss certain non-GAAP financial measures. For reconciliations of the non-GAAP measures to GAAP financial measures as well as other information regarding these measures, please refer to our earnings releases and other materials in the investor relations section of our website.
We encourage you to read the press release issued today, the accompanying presentation, and Sema4's public filings with the SEC, including our most recent quarterly report on Form 10-Q and our most recent SEC filings, as well as a proxy statement that will be filed in the near future related to the acquisition, which are or will be available on the SEC's website. This conference call contains time-sensitive information and is accurate only as of the live broadcast today, January 18, 2022. Sema4 and GeneDx are under no obligation and expressly disclaim any intention to, except as required by law, to update, confirm, or otherwise revise any financial projections or forward-looking statements, whether because of new information, actual results, future events, or otherwise.
This conference call is for informational purposes and should not constitute as an offer to sell, a solicitation of an offer to buy, or a recommendation to purchase any securities or a solicitation of any vote in any jurisdiction pursuant to the proposed business combination or otherwise. Nor shall there be any offer, solicitation of an offer, or sale of securities in any jurisdiction in which the offer, solicitation, or sale would be unlawful prior to the registration or qualification under the securities laws of any such jurisdiction. During this call, we will be referencing presentation slides that are posted on our investor relations website. With that, I turn the call over to Eric.
Thank you, Joel. Good morning, everyone. Thanks for joining us today on such short notice. We are very excited to discuss the announcement of our definitive agreement to acquire GeneDx, a world leader in the delivery of clinical genomic solutions for rare disorders. This acquisition allows us to advance our mission to partner with patients and their physicians, health systems, and biopharma companies as a premier health intelligence company, leveraging genomics and large-scale clinical and multi-omic data to accelerate and enhance standard of care through precision medicine. I'm also excited to announce that in conjunction with this acquisition, we have secured a $200 million PIPE supported by leading science and growth investors, including Pfizer. We are excited to have Pfizer on board, and we hope that this investment may serve as a foundation for potential future collaborations.
We'll pass over Slide 2, which is our standard disclaimer on forward-looking information that Joel just covered a moment ago. Turning to Slide 3. As we have discussed with you previously, Sema4 has made significant investments to create the most clinically advanced data insights engine for patients, clinicians, health systems, and biopharma partners. The acquisition of GeneDx will accelerate our efforts and enhance our value proposition in three critical ways, transforming Sema4 into a larger and stronger company with a faster path to profitability. First, we will have a forward revenue growth profile in excess of 30%. Second, a clear path to 50% gross margins. And third, positive free cash flow by the end of 2025.
From a strategic standpoint, this deal will buttress our current leadership position in comprehensive reproductive health genomics testing solutions and provide us with immediate opportunities to leverage GeneDx operational excellence. GeneDx has created a market-leading clinical diagnostic operation over the past 20 years that today delivers the most scaled, clinical genomic solution spanning all protein coding variation in the human genome. The combination of Sema4 and GeneDx will create a company that is not only changing the landscape of how patient care is delivered, but will create a company that is leveraging efficiency that are unparalleled in our industry.
As important as a 30% growth profile, path to 50% gross margins, and positive free cash flow by the end of 2025, I'm excited that this transaction comes with a leadership partner in Katherine to drive the diagnostic part of the business while I focus on gaining increasing traction with health systems and biopharma on the information side of the business. With the power of the combined management teams, I'm delighted to welcome Katherine to our leadership team as Co-CEO. Katherine brings significant commercial and operational experience and will lead overall operational excellence, business planning, and will focus on Sema4's diagnostic business.
I will focus on leading R&D and the IT platform components of Sema4, the strategic development of Sema4's health intelligence capabilities, and partnerships with health systems and biopharma, with the ultimate aim of driving Sema4 to develop the first platform of algorithms serving the broader healthcare landscape. In addition, I wanna welcome Jason Ryan as our new Executive Chair of the Board. He brings a wealth of experience in our industry as the former CFO of Foundation Medicine and COO of Magenta Therapeutics. I'm excited to partner with both Katherine and Jason on our collective mission to expand the Sema4 platform, grow and strengthen our financial positioning, and deliver on our transformational mission for patients.
Turning to Slide 4, I'd like to specifically highlight the three tenets underlying why our acquisition of GeneDx will push our revenue growth profile to greater than 30% , provide a path to 50% gross margins, and deliver positive free cash flow by the end of 2025. First, this acquisition enhances our reach into health systems and biopharma partners and expands our data capabilities. With better reach into health systems comes more testing volumes, access to deeper longitudinal medical record data, and access to more patients, and bigger scales of genomic and clinical data and broader access to patients, which combined leads to enhanced biopharma partnerships.
GeneDx's clinical genomic solutions in the rare disorder arena, combined with Sema4's core Women's Health business, which includes heritable cancer testing and other genomic solutions in oncology, will transform Sema4 into a powerhouse across the continuum of family health, with market-leading positions in both women's health and rare disease. These areas are of critical importance to our health system and biopharma partners, and together, we will be able to better serve these channels in a more holistic way with a combined market-leading franchise in family health. No other company will have the deep expertise in next-generation sequencing, rigorous science underpinning our clinical offerings, and advanced capabilities to put these disciplines together with data-driven insights.
The transaction will significantly enhance the power of our market-leading Centrellis database by adding more than 2.1 million expertly curated phenotypes and over 300,000 clinical exomes, GeneDx has generated to date, the largest such effort of its kind in the clinical arena, and growing. Second, GeneDx enhances our scale and growth in clinical next-generation sequencing. This transaction will catapult us into a clear leadership position for one of the most important trends in clinical genomics, the advent of whole exome and genome sequencing as the diagnostics testing platform of the future. Today, most clinical next-generation sequencing tests are still narrow gene panels, which, while valuable, still only tap into a tiny fraction of the power and clinical utility that these technologies are capable of. We see the future of clinical next-generation sequencing testing rapidly shifting to the exome and eventually to whole genome.
We expect clinical exomes will drive the majority of our testing revenue in the next few years as we drive the market towards a more comprehensive data set and more informed insights. On a pro forma basis, the combined company will have a full- year 2022 revenue of approximately $350 million, making us one of the largest clinical NGS companies in the world. Both rare disease and women's health continue to be high-growth segments of the genomics market, and our market leadership positions, along with our unique channel reach into health systems and biopharma, will enable us to drive very strong long-term growth well into the future.
In 2022, the combined companies will carry out comprehensive genomic testing on over 500,000 patients, with the vast majority generating genome-scale data and with the ability to consent the vast majority of these patients for recontacting and access to medical record data. Finally, the third tenet of this transaction is accelerating our path to profitability. Together, the combined company will have a pro forma gross margin of 16% for the full year 2022, with a clear path to reaching 50% by 2025. I'd now like to pass the call over to Katherine for an overview on GeneDx and why the pro forma company will have a unique offering in the genomics market. Katherine?
Thanks, Eric. This is a truly transformational combination of companies, technologies, and teams, and it's only gonna accelerate both of our growth plans geared towards improving healthcare for everyone. My entire career has been in healthcare, first in biotech and pharma, and for the better part of the last decade, I've been immersed in the business of genomics. Prior to joining GeneDx last summer, I was focused on building and scaling genetics at Invitae, where I drove the company's growth strategy from around 60,000 patients a year to now nearly 700,000 and more. Throughout that time, I admired GeneDx's clinical excellence, in particular, their strength in exome sequencing. As the industry evolved, GeneDx continued to show up as the leader in rare disease diagnostics.
To those not familiar, the company was spun out of the NIH about 20 years ago, and today, we still train NIH fellows in genomics. The company was later acquired by BioReference and OPKO. Over the years, it has been a quiet pioneer in diagnosing the hardest to diagnose patients. Today, we're a giant in this field with 70% market share for the industry's leading exome and ready to scale the first commercially available clinical exome. It was really an incredible opportunity to come in last summer and get to work to develop a growth strategy and put serious commercial and operational muscle behind this unique asset.
To date, as Eric mentioned, we've completed more than 300,000 clinically reported exomes with approximately a third of those over the past year or so, which indicates that we're seeing a shift in the market from panels to the more comprehensive and definitive answers that GeneDx's platform provides. As a result, we've amassed a rapidly growing data set that pairs that genomic information with deeply annotated and structured clinical information, now including more than 2.1 million phenotypes. We've been able to do all of this at scale with one of the best cost profiles in the industry. What fuels this is the virtuous cycle of our expertise and the richness of our data set, which enables us to provide 20% more definitive diagnoses with 27% fewer uncertain findings compared to using information shown in publicly available databases.
With every exome that comes through our lab, our variant interpretation improves, the value to patients and clinicians improves, and we further widen our competitive advantage. We have strong and long-standing relationships with leading academic medical centers, and that's why you see both the research and clinical communities coming to us for the most state-of-the-art genomic testing solutions. This diagnosis engine is also a discovery engine that publishes on hundreds of new gene-disease relationships every year, many in top-tier journals such as JAMA, Nature, and the New England Journal of Medicine. All of this is why the acquisition by Sema4 is the perfect move at the perfect time. Our team has spent years developing these capabilities, and they're an absolute complement to Sema4's approach. Our combined data sets will strengthen each other when on the Centrellis platform.
Our exome program accelerates Sema4's transition to using exome and ultimately genome as a one test that replaces all other panel testing. Our commercial strategy is a perfect fit to create continuity for clinicians and health systems alike as patients move from thinking about having a baby to parenting a child. Add to that teams with complementary skill sets, and the result is what I genuinely believe is the most exciting story in the genomics industry, as Sema4 and GeneDx will create a powerful combination to accelerate the arrival of genomics as a standard of care. I'll let Eric talk more about how this comes into play for health systems and biopharma.
Okay. Thanks, Katherine. Indeed, just super exciting to be doing this. GeneDx has not only built an impressive data repository, but the rate of growth of this asset, both in terms of large-scale genomic and clinical data, continues to accelerate. With the combination of GeneDx's testing platform, existing repository, and our genomic testing and Centrellis platform, we see a huge opportunity to create value with the combined data offering. Just for those tracking, we're gonna turn to Slide 7. In particular, we think biopharma companies and our current and future health system partners will see unique value here that no one else can deliver.
Pharma partners are seeking far more than NGS as a service, and the first step is offering a scaled exome sequencing platform that is linked directly to large, diverse patient populations, along with longitudinal medical record data to provide the most holistic model of a patient's health course. We are excited by our ability to do this in rare disease, which is one of the most important areas of therapeutic development. Similarly, our health system partners have consistently expressed an interest in making an impact in rare diseases. To us, this is something we can do immediately and at scale, thanks to GeneDx. Additionally, we aim to standardize genomics and serve our health system partners with a deep menu of precision medicine solutions. GeneDx immediately expands our offering with whole exome and genome offerings.
Our partnership with health systems involves generating genome-scale data once on a patient at a critical point in their health course, but then analyze this information for a lifetime across all other critical points in their life course. Okay, I'm gonna turn the call back to Katherine now to discuss the synergies we see to extract value and fundamental change the way family health is delivered today.
Awesome. Thanks, Eric. One of the things that gets me most excited about this combination is the unique opportunity that we have to create a real category leader in family health. This is particularly true given the patient experience that Sema4 has expertly built with one of the most powerful and influential customers in any industry, a woman who's planning to have a baby. With more than 80% consent rate that Sema4 has been able to achieve, which is incredibly impressive, when women are onboarded onto their platform, we're now able to extend our relationship with that woman from pregnancy into motherhood by adding GeneDx into that mix and giving her the next set of genomic information needed beginning with newborns.
We've already begun to focus GeneDx's strategy in the neonatal intensive care unit, or NICU, providing a diagnosis as quickly as possible in a scaled and robust way to help move patients out of the NICU and avoid unnecessary follow-on testing, giving them a definitive diagnosis and delivering a cost savings of $33,000 per patient and providing reliable reimbursement through a DRG. We're also focused on driving adoption of our exome and genome in the outpatient pediatric setting. We're seeing ever-increasing definitive support through the medical guidelines from ACMG through state Medicaid coverage decisions in both of these patient settings. That footprint in pediatrics then opens up newborn screening as the next big opportunity, one on which we're already collaborating with several forward-leaning states. That, in turn, helps to strengthen Sema4's population screening capabilities, and this is again, where the strength of our exome and genome comes into play.
We have the capabilities to scale exome for both screening and diagnostics, each with its own appropriate pricing and COGS, to really hasten the transition of moving away from operationally cumbersome panel testing and toward the simplicity of genome first. Throughout all of this, there are two things happening that further strengthen our position. First, we're establishing a sticky, lifelong relationship for a mother for both her health and the health of her family. Second, each interaction further improves our data set in Centrellis, enabling us to return more and better value to patients, clinicians, and health systems, and opening up vital opportunities in rare disease drug development and other biopharma research. From a health systems perspective, this ability to serve a patient continuously using a deeply integrated system makes it easy to incorporate genomics, and it's an incredible strength of Sema4's.
We've seen Sema4 really making that happen in places like NorthShore, just outside of Chicago, and we're excited to put our combined commercial team behind these opportunities to really drive genomics and precision medicine more generally deeper into the clinic as the standard of care. For all of these health systems, ensuring they are providing medical care for the entire family is a priority, and the integration of genetics into their infrastructure really ensures that. From an operational and commercial perspective, this is where the switch to an exome and ultimately whole genome test really changes the game.
By relying on exome or genome as a backbone sequencing technology for these access points, you're really moving to the sequence once, query often model, which provides simplicity and efficiency across the board for us in the lab, but most importantly for clinicians, for patients, and for payers, all while deepening our data set, improving our algorithms, and increasing the value we provide to partners. Finally, I really want to emphasize my excitement to make an impact on the combined company's overall operations, where I believe my unique background in this industry can be particularly helpful. While at Invitae, I was closely involved as we deployed both buy and build strategies to scale the business and develop operations capable of serving millions of people a year.
I was deeply involved in more than a dozen acquisitions there, starting with the company's very first one, so I'm eager to bring that wealth of experience to this integration and to see huge opportunities to deliver operational excellence and value for shareholders in multiple ways. I'm so excited to partner with Eric, Jason Ryan, Isaac, and the full combined team to drive a successful integration of GeneDx, more efficient lab operations, a world-class commercial organization with a very differentiated go-to-market strategy and portfolio. With that, I'd like to hand it over to CFO Isaac Ro to discuss the financials for this transaction.
Thanks, Katherine. In addition to the strategic merits of this transaction, we are also very excited about the financial impact to our growth and our path to profitability. Let me first start with a standalone 2022 guidance for Sema4, and then discuss the pro forma profile for the combined company. Recall that we expect the transaction to close in Q2, so these pro forma numbers are illustrative for the full year 2022, as if both companies were combined as of January 1st. For Sema4 standalone, we expect 2022 revenue to be in the range of $215 million-$225 million. This guidance implies core growth of 23%-29%. Recall that we recently announced the decision to wind down our COVID-19 testing business in Q1 2022, as it is non-core to our long-term strategy.
This business generated roughly $30 million of revenue in 2021. We assume virtually no COVID-19 revenue in 2022 and believe the resulting core growth rate of 23%-29% reflects a robust and more focused growth profile. I want to emphasize that this plan has been designed to be conservative. This means that we are investing the resources to achieve a higher rate of growth, but guiding to a more conservative outcome to ensure that we continue to build a track record based on underpromising and over-delivering. Let me give you three examples that help illustrate ways in which we've built conservatism into our plan. First, we assume that contract-based reimbursement pressure in our core ECS business will continue with a modest degree of improvement on the billing and collection side in 2022.
We have a clear line of sight on stability in the former and improvement on the latter. Our assumptions could prove to be conservative if we execute better. Second, we assume that reimbursement in our Oncology business will not begin to improve until the second half of 2022, and reimbursement will remain well below market rates by year-end 2022. We could see upside to our ASPs if either of these scenarios prove to be conservative. Third, we assume our continued investments in sales force expansion will see a slower and shallower path to average productivity per rep than we have seen in the past. Success maintaining or improving their performance is another way in which our guidance could prove to have upside. These are just a few examples of ways we have handicapped our top-line growth outlook for the year.
Turning to GeneDx, we are assuming 2022 revenue will be $130 million, which conservatively implies 12% growth in 2022. It's important to note, however, that the company has built and resourced a plan to achieve far higher growth. We share their enthusiasm, and we all feel great about the fact that the earn-out milestones in the transaction are actually based on GeneDx achieving revenues of $163 million in 2022 and $219 million in 2023. If those milestones are achieved, that would accelerate GeneDx's growth profile into the mid-30% range and would imply a transaction value of less than 3x 2023 revenue. Let me give you a few examples to help illustrate the ways in which our $130 million guidance could prove to be conservative.
First, as Katherine mentioned, she has been hard at work building out the commercial org at GeneDx since she arrived. This transition only took hold in earnest starting in Q4 2021. GeneDx is rapidly driving the rare disease testing market towards exome sequencing, and doing so from a position of strength as the market leader. We think that transition is still in its infancy, and at the same time, market penetration of rare disease testing is still very low, probably in the mid single digits. Second, we think there are significant cross-selling opportunities as we transition together from independent companies focused on women's health, cancer, and rare disease into a unified franchise focused on family health and traditional clinical channels. Third, there is virtually no overlap in GeneDx's customer base and our health system partners. NorthShore, Avera, and Advent all represent greenfield opportunities for GeneDx.
If we are successful in accelerating GeneDx's growth profile in any of these three areas, we see opportunity for upside to our base case forecast. Taken together, we assume no revenue synergies in 2022, $10 million of revenue synergies in 2023, and see upside to our outlook if we're able to deliver above these hurdles. Now, let me shift to focus on improvements to gross margin and our accelerated path to profitability. On the gross margin side, I'll begin with standalone Sema4 assumptions. First, we are making good progress to stabilize our ASPs and improve lab operations. These efforts should translate into a very modest sequential gross margin improvement in Q4 2021 versus Q3 2021. This sequential improvement should continue throughout 2022, with second half gross margins materially higher than first half and positive adjusted gross margin for the full- year.
It is important to note that these assumptions imply that our exit gross margin in Q4 of 2022 will be significantly higher year-over-year and will start to resemble peer group average margins on a standalone basis. We will give more detail here on the Q4 earnings call in March. Let me give you a few examples of how we plan to take the combined business from 16% gross margin to over 50%, to 50% over the next few years. The first is mix. GeneDx operates in a higher margin segment of the market, rare disease testing. This is a higher ASP and higher growth segment of the testing market versus our current portfolio, so this transaction is immediately accretive to our margins, and we will have structurally higher gross margins immediately after the transaction closes.
Again, we assume no revenue synergy in 2022. If we are successful in cross-selling GeneDx into our channels, that should accelerate our overall gross margin improvement. Second is GeneDx' market-leading COGS in clinical exome sequencing. They have tremendous capabilities here across their team, systems, and processes, all of which have been purpose-built to run clinical exomes. We are eager to leverage that infrastructure and know-how in combination with our own investments here to benefit our combined portfolios over time. Together, we will run over 500,000 clinical NGS tests in 2022 with an unmatched ability to drive scale and better margins over time. Third, we see opportunities to develop stronger revenue cycle and billing processes over time.
We have both made key investments in revenue cycle systems over the last year and recently established proper market access functions that will work closely with our commercial teams to better identify, target, and monetize our test volumes. Ultimately, this should translate into better gross margins. Taken together, we see a wealth of opportunities to reach 50% gross margin and cash flow breakeven status by the end of 2025. Now turn to Slide 12. As Eric previously mentioned, the total consideration for GeneDx at closing will be approximately $623 million based on our closing share price on Friday, January 14th. At closing, Sema4 will pay $150 million in cash and 80 million shares of Sema4 common equity, or roughly $473 million in total upfront consideration based on Friday's close.
We are very excited about the shareholder value created by this transaction. We are accelerating our top-line growth, improving our margins, and accelerating our path to profitability while also servicing a number of our strategic needs at an attractive price. If GeneDx hits our 2022 revenue guidance of $130 million, the upside consideration would imply the upfront consideration would imply 3.6x GeneDx's 2022 revenue. If 2022 and 2023 revenue earn-outs are achieved, the total consideration would imply less than 3x GeneDx's 2023 revenue. In terms of timing, we expect the transaction to close in Q2 2022 after a successful shareholder vote and customary closing conditions are met. Now, turning to Slide 13. We are also announcing a $200 million PIPE transaction in conjunction with this acquisition.
Let me spend a minute telling you why we are raising this funding. Our core, our goal was to more than replace the upfront cash and transaction costs associated with this deal. We also saw a unique opportunity to bring in Pfizer as a new investor, which we hope will serve as a prelude to a broader relationship over time. This also validates the unique value of our platform and should serve to help open the door for additional biopharma collaborations over time. In terms of the details, we issued 50 million shares priced at $4 per share, and this transaction will be executed upon closing of the GeneDx deal. With that, I'd like to hand the call back to Eric.
Great. Thanks, Isaac. Before we turn the call over to Q&A, I'd like to just reiterate that we fundamentally believe that GeneDx will allow us to better serve patients and truly move our offering toward a more holistic family health solution. We see complementary revenue streams with opportunities to leverage GeneDx' proven best practice to optimize our margin profile. Together, we are creating a powerhouse in the genomic space with unmatched data and analytic capabilities that will create an unrivaled partner for biopharma. With that, operator, I'd like to open it up for Q&A.
Thank you. As a reminder, to ask a question, you will need to press Star one on your telephone. To withdraw your question, press the Pound key. Please stand by while we compile the Q&A roster. Our first question comes from Max Masucci with Cowen. Your line is open.
Hi, this is Stephanie on for Max Masucci. Thanks for taking the question and congrats on the deal. With this acquisition, you're adding 300,000 clinical exomes and 2.1 million phenotypes to Centrellis. Can you, one, describe how feeding these phenotypes and exomes into Centrellis can result in improved actionability for clinicians? And does it improve the diversity of the patient information in the Centrellis platform? Also, how does this deal better position Sema4 for health system wins?
Yeah, perfect. I like the question, and I would say that first of all, what GeneDx has built with their clinical exome platform is a learning-based platform that leverages the big repository of data and learning and diagnoses that they've made over time, so that every exome they're adding, right, is making improvements for subsequent exomes. We're gonna benefit from that learning-based platform, first of all. Second, having over 300,000 clinical exomes, the majority of which are tied to high-quality, longitudinal medical record data, 2.1 curated phenotypes.
Like, all of that data combined is going to make for an unprecedented discovery engine in terms of better understanding of disease and diagnosis of disease, not just in rare disorders, but in linking that information together to inform on common disorders as well. Just as one example, you know, very early onset IBD, a rare disorder, Mendelian genetic mostly, has natural ties into common forms, adult IBD, and we today have relationships with pharma companies around integrating those to provide better insights into better ways to treat and diagnose the disease. We see that combination of data accelerating into the biopharma space. Into the health system space, it's gonna provide, again, for the ability to more accurately characterize patients in the population.
You know, a lot of these rare disorders, you know, may manifest later in life. There are differences in expressivity of those variants. All of that provides for a better engine to manage, you know, populations, population health management in the health system, but also attractive for delivering NICU and PICU clinical exome sequencing as a standard of care in these systems. It's just many different channels of opportunity. I don't know if you have anything to add, Katherine, on top of that.
Yeah. I think what's really interesting when you think about the population that we have been screening, we have, I would say, a very diverse patient population that we're sequencing. It's, I think, unique in that, when you're looking at companies that are, you know, really focused on hereditary cancer, it's going to be a higher Caucasian population. I believe that our data set is at maybe 60%-65% that is Caucasian. It is more representative of the general U.S. population to date than most companies in the space, and I think that that's something that is gonna be an incredible strength for us moving forward as we continue to open up access and learn more about the impact of genetics in different populations.
Awesome. Thank you. That's super helpful. If I could add a follow-up question, perhaps better for you, Katherine. Can you provide some color around the key revenue-driving tests in GeneDx's test portfolio and any upcoming test launches the company has in its pipeline?
Certainly. I would say historically, we've had a very diverse test menu that has. We've had hundreds of panel tests in addition to our exome and genome. Before, you know, I arrived last summer and we started really building a growth strategy, there was a pretty small team here that was really selling, I would say, opportunistically and organically, the test menu that we had. What we've been able to do is shift our strategy to really focus on exome in the NICU, exome and genome in a pediatric setting, and then focus on what we would call kind of panels where we have a particular competitive advantage, mainly in the neuro and ped space, so consistent with the call points that we're gonna be focusing on.
I think what's incredible is what we hold in our hands is the product of the future. It. We have it today. It's about how do we drive adoption of it as quickly as possible. Those are the first near-term settings where we think we have the benefit of.
You know, kind of a wide open space. There's not a lot of players going in there, who can provide a cost-effective solution as quickly and at scale as we can. Our focus is really gonna be on taking what we have today and putting that commercial muscle behind it to expand adoption. We've got several studies that we have, including with the University of Washington, SeqFirst, which is really looking to utilize exome and genome in that NICU as well as ped setting. We are going to continue investing in generating a body of evidence that really further supports the utilization of exome and genome to provide rapid diagnoses in these settings.
Great. Thank you so much.
Thank you. Our next question comes from Matt Sykes with Goldman Sachs. Your line is open.
Thanks for taking my questions, everybody, and congrats on the deal. My first question, kind of along the lines of one of the previous questions, was when you guys look at the opportunity set, as a combined company, and you think about the biopharma and the health systems, as separate opportunities, I understand there's no revenue synergies, you know, being included in 2022, but if we were to look for opportunity and wins, do you think it would make more sense coming from the biopharma end or the health system end, as we kind of look forward as a combined company from a commercial standpoint?
Yeah. Maybe I'll take a crack at that, and Isaac can follow. It's I see them as synergistic plays off one another. In the health systems, it's providing the ability to provide a more holistic set of solutions into the system, which these systems want to standardize genomic medicine as a standard of care. Coming in with a clinical exome that can be, you know, leveraged in the rare disorder space, but as Sema4 comes to adopt that as the testing backbone, we'll have utility across, you know, the testing space, across a broad range of diseases and conditions. It generates a lot more data.
It increases volumes to impact a lot more patients, and all of that makes for a more attractive database and analytics engine resource to partner with pharma. We see this as being, you know, and one of the reasons we think, you know, Pfizer comes into this kind of deal is the wealth of data that GeneDx has today, the continued growth in the rare disorder space. You know, reproductive health, where we operate today, is a rare, you know, is a focus on rare disorder type screening. You know, the combination of that provides for unparalleled sets of data to partner with pharma to help them derive therapeutic discovery, identification of patients that will benefit from, you know, rare disorder drugs and so on. So we definitely see this accelerating our biopharma partnerships and perhaps having the biggest impact in 2022.
Yeah. I would just add, Matt, that you know, we're obviously super excited to have Pfizer as a new investor in the company, and there's no news to talk about with them specifically, but we think that development should signal to the market a couple things. One is, you know, what we're doing is very differentiated. It's the biopharma community, I think, sees that value, and we're extremely optimistic that this will sort of catalyze conversations across the industry. You know, Pfizer's a world-class company. We're extremely privileged to have them as supporters, and we're very excited about the range of things we can do with them and others.
Hopefully, that gives you a little confidence that there's a lot of stuff going on that, you know, over the rest of this year, we'll have more news to share.
Got it. Thanks. Isaac, maybe one for you. I know you talked about your conservatism on the revenue side. Not too many mentions of any cost synergies. I understand this deal is probably more related to the revenue side. As you think about a combined company, you think about, I don't know, lab footprint, capital equipment spend, understanding that GeneDx comes with some higher margins 'cause of the testing products that they have. Are there levers on the cost side that you think can be achieved to get to that gross margin expansion faster over time?
Yeah, it's a great question. I mean, the first thing I would say there is, you know, this is a growth accelerant type of transaction, meaning that we're really doing this to drive growth and so we wanna invest behind that, and that's really important. Having said that, when I think about cost and our margins, to me, the first order of business really is to look within ourselves and find ways to get more efficient in the lab, and there's lots of low-hanging fruit there. At the same time, when this deal closes, I think there's a lot we can learn and kinda cross-pollinate with GeneDx, 'cause as I mentioned in the prepared remarks, you know, they've really been purpose-built to drive the future of the exome, and that's the future that we've been building towards as well.
I think that's where you're gonna see, I think, a little bit of cost opportunity is, you know, the majority of our expenses do go through the lab, whether it be labor or associated consumables. As we take those together and say, you know, where do we do this the best over time, you know, we're extremely optimistic that the GeneDx infrastructure is gonna be, for the exome side, the best way for us to do that. I think what we'll be, you know, very thoughtful in how we execute on it, but that's, to me, sort of the two-step plan that we're thinking about, at least for 2022.
Great. Thanks very much.
Maybe worth just reiterating on that, you know, a lot of this is driven, you know, it's bringing Katherine on, the operational excellence they've arrived at GeneDx and putting some of that into play, bringing Jason Ryan on to help focus us on all the types of things Isaac just mentioned.
Got it. Thanks, very helpful. Appreciate it.
Thank you. Our next question comes from Mark Massaro with BTIG. Your line is open.
Hey guys, congrats on the deal, and thanks for taking the questions. I guess, first question I guess is for Eric. You know, I understand that over 80% of your users, for the standalone, have consented, their health information. I guess, what is the equivalent percentage or how should we think about your ability to sort of port the data over from GeneDx into your, central database?
Yeah. I'll say first of all, yeah, that we're very excited to have that kind of consent rate over the population we test today. You know, women's health, reproductive health are very, you know, sticky points of engagement, you know, for poor patient engagement, and that gets reflected in those. I think the same holds on the rare disorder side. Combined, you know, you're looking at, in the first year again, genome scale, NGS-based testing on over 500,000 patients a year and growing. Super excited that we can continue that kind of data ramp in partnership with GeneDx.
On being able to pull the type of data GeneDx generates and aggregates around patients, what I'll say is our whole history has been, you know, our whole play with different health systems in acquiring patient data and partnership with patient outside of the health systems, has been how to consume those different kinds of data, how to abstract from unstructured data, how to restructure those data, how to map those in a common data model so that they're comparable and can be integrated into one, you know, central database repository, the Centrellis platform, and kind of seamlessly queried without having to worry about where they came from. That same technology that we've developed, for, you know, for those interactions will, you know, deploy into the GeneDx arena.
We don't see anything that would hold us back from being able to rapidly consume everything that GeneDx has assembled and continues to assemble today.
That's helpful. Then, I guess another one for you, Eric. How do you think this particular portfolio, you know, with expertise in exomes and pediatrics, rare disease and neurology, complements the test mix that you have, that you've built today? What does that say for these new areas? You know, pediatrics, perhaps neurology might be a bigger mix now. But does that in any way change the data asset, or help us think about ways that you'll grow the business over the next couple of y`ears?
Yeah, perfect. I think it. You know, because it's so complementary and because it's, you know, initially pediatric-focused, it is a natural extension from the journeys that we're mapping out with the patients we test today, from pre-pregnancy to pregnancy to deliver. If there's a problem in doing that within the health system, following that kind of health course, if there should be a problem with the baby, there now we have the comprehensive solutions to be able to engage and diagnose and facilitate, you know, getting to treatment decisions. We see it as kind of this natural extension to be helping patients manage their all the different health courses through their life course. With that kind of engagement, right, it's deeper, denser, longitudinal medical record data. It's better traction, stickier traction with patients.
Having those patients coming, you know, into the portal, into that kind of digital experience with us on a more routine basis. We see that expanding, you know, with the clinical exome and something we will be pushing to move adoption of so that we're all standardized on one testing platform. That clinical exome then not only informs as GeneDx is using it today in the rare disorder space, that now has utility. That can be run for expanded carrier screening, for heritable cancer, for drug safety, for polygenic risk scoring across a wide array of diseases and conditions, the ACMG 73 conditions and so on.
Like, it just all of a sudden has this really broad utility that will maximize the types of engagements we can have in partnership with patients and health systems through any point in their care. It's just gonna be a way more informative, denser, more longitudinal set of data. Again, you talk to the pharma partners today and, like, what they're missing from kind of data warehousing, just consuming data that others have done a kind of quick job of amassing big sets of data. What they're lacking is the quality of informed patient journey information to reliably reconstruct those individualized health course trajectories. They just can't accurately do it with the kind of data they're getting today.
The data we're amassing in these partnerships, it gets to that high quality, you know, individualized healthcare trajectory.
I would just add to that. It's as Eric said beautifully. It's the continuum of care, from you know, a woman trying to have a baby through being a mom and then every stage of life after that, including her entire family beyond. We really are positioned well to be the family health company. From a practical matter, when we look at the customer segments that we have relationships with, they are also highly complementary. While, particularly from a health systems perspective, we're doing some work with Sinai, there is just wide-open space in terms of the relationships that Sema4 has been able to build. We think that there's just an immediate opportunity to be able to drive exome and genome into those settings, and be able to find synergies across the board.
Okay. Last question, I guess, Sema4 and congrats on the transaction. I guess why is the Co-CEO structure the right structure for Sema4? Obviously, Katherine, you have, you know, great experience at Invitae and GeneDx. Just help us think about how the two of you will split the duties. I guess another one for you, Katherine, how do you envision the combination to be differentiated from your old employer at Invitae?
Yeah. Maybe I'll start, and then Katherine can jump in because this was definitely something I drove. I think what we have at Sema4 is, you know, the big mission. That big mission has both a scaled and growing genomic diagnostics component, and it has an emerging information component where we're driving into health systems, partnerships with biopharma and patients. What you know, what I was increasingly spending a lot of my time on was that diagnostic business, not doing what I really wanted to be doing, which was driving this information view of things that ultimately diagnostics is gonna transition to an information business, and it's gonna be building out this platform of algorithms, getting it in play in health systems, getting it in play with pharma and driving those relationships.
Having a partner that I could trust who has deep knowledge in the genomics arena and can drive that diagnostic business, but not just as an independent thing, but as intertwined with this information component because it is the fuel that drives the flywheel that is, you know, giving us the acceleration we're getting with pharma relationships and into the health systems. It just made a lot of sense to me to have, you know, Katherine come on and lead that diagnostic component, the commercial arm, the operational arm to free me up to then go in and focus on, you know, the R&D developments, on driving the information platform and having that in play with the health systems and pharma.
You know, for the first time that Eric and I sat down, it was super clear there was so much enthusiasm for what one another's companies were doing, and the complementary nature of the teams and the technologies was clear, but also just where we both shine and where we both get really excited. You know, I think especially seeing Pfizer come into this transaction, to me, that's an incredible validation of exactly why we wanna divide the responsibility so we can go where we have a competitive advantage. When I think about the broader competition in this space, everyone has kind of a sweet spot of what they're doing incredibly well.
When I think about Sema4 and GeneDx and the unique assets that we have here, being able to have Centrellis is something that I haven't seen in this space otherwise at all. Being able to see the consent rates that they have, also something that is unrivaled. The pregnancy journey patient experience, also unrivaled. The ability to drive volumes at a meaningful level that are changing patient outcomes and changing clinical care, through those health systems, also something I haven't seen in the space. Then you're able to take this exome and genome that has been quietly built over the past decade and really just embed that into the Sema4 infrastructure and our overall growth strategy.
That is a winning combination of things that around the entire ecosystem of genomics, they are unique assets that I think are truly game changers. Everyone's bringing something to the table here in order to really drive, you know, an entirely new era in genomics. I think what we have here in this combination is a very unique combination that changes the way that genomics really does become standard of care more quickly for more people.
Okay. Thanks so much. That's it for me.
Thank you. As a reminder to ask question time, please press Star then one on your touchtone telephone. I'm currently showing no further questions at this time. I'd like to turn the call back over to Eric Schadt for closing remarks.
All right. Great. Well, thanks, everybody for the time, again, for joining on short notice and following us on our journey. Again, we look forward to, you know, closing this merger and to the new year and doing great things. Thank you.
Thanks.
This concludes today's conference call. Thank you for participating. You may now disconnect.