What changed in this filing

/stocks — the workspaceLOADING

Item 1. Business

2025-02-20 compared with 2024-02-23 · 121 added, 122 removed, 344 unchanged (41% of the section changed)

The description of our business and operations below reflect the exits from the somatic tumor testing and the reproductive and women’s health testing businesses during the fourth quarter of 2022 and the first quarter of 2023, respectively.

Unless otherwise stated in this Annual Report or the context otherwise requires, references to:

• “GeneDx Holdings” refer to GeneDx Holdings Corp., a Delaware corporation (f/k/a Sema4 Holdings Corp.

(“Sema4 Holdings”));

• “Legacy GeneDx” refer to GeneDx, LLC, a Delaware limited liability company (formerly, GeneDx, Inc., a New Jersey corporation), which we acquired on April 29, 2022 (the “Acquisition”);

• “Legacy Sema4” refer to Mount Sinai Genomics, Inc.

d/b/a as Sema4, a Delaware corporation, which consummated the business combination with CM Life Sciences, Inc.

• “GeneDx Holdings” refer to GeneDx Holdings Corp., a Delaware corporation;

• “Legacy GeneDx” refer to GeneDx, LLC, a Delaware limited liability company, which we acquired on April 29, 2022 (the “Acquisition”);

• “Legacy Sema4” refer to Sema4 OpCo Inc., a Delaware corporation, which consummated the business combination with CM Life Sciences, Inc.

(“CMLS”) on July 22, 2021 (the “Business Combination”);

• “we,” “us” and “our,” the “Company” and “GeneDx” refer, as the context requires, to:

◦ Legacy Sema4 prior to the Business Combination, and GeneDx Holdings and its consolidated subsidiaries following the consummation of the Business Combination;

◦ Legacy GeneDx prior to the Acquisition, and GeneDx Holdings and its consolidated subsidiaries following the consummation of the Acquisition.

• “Company,” or “GeneDx” refer to (i) Legacy Sema4 prior to the consummation of the Business Combination;

and (ii) GeneDx Holdings and its subsidiaries following the consummation of the Business Combination (including, following the consummation of the Acquisition, Legacy GeneDx).

On January 9, 2023, Sema4 Holdings Corp.

changed its name to GeneDx Holdings Corp.

The Company’s Class A common stock and public warrants are listed on the Nasdaq under the symbols “WGS” and “WGSWW,” respectively.

• “we,” “us” and “our,” the “Company” and “GeneDx” refer, as the context requires, to GeneDx Holdings and its consolidated subsidiaries.

The Company’s Class A common stock and public warrants are listed on the Nasdaq Global Select Market under the symbols “WGS” and “WGSWW,” respectively.

At GeneDx, we believe that everyone deserves personalized, targeted medical care—and that it all begins with a genetic diagnosis.

Fueled by one of the world’s largest rare disease data sets, our industry-leading exome and genome tests translate complex genomic data into clinical answers that unlock personalized health plans, accelerate drug discovery, and improve health system efficiencies.

We operate with conviction that what is best for patients must be embedded in every aspect of our work.

In support of these beliefs, we value equitability, simplicity and transparency.

Through this value system, we aim to deliver personalized and actionable health insights to inform diagnosis, direct treatment and improve drug discovery, bringing better health from genomics to patients around the world.

GeneDx sits at the intersection of diagnostics and data science, pairing decades of genomic expertise with an ability to interpret clinical data at scale.

We believe we are well-positioned to accelerate the use of genomics to enable precision medicine as the standard of care.

Our initial focus is in pediatric and rare diseases, two areas in which we believe we have competitive advantages and can deliver on our vision today.

GeneDx was founded in 2000 by scientists from the National Institutes of Health whose mission was making genetic testing accessible for patients with rare diseases.

The company quickly became a leader in genomics, creating the foundation for how to provide genomic information at scale and pioneering exome and genome sequencing for rare and ultra-rare genetic pediatric disorders.

More than 20 years later, we have amassed one of the world’s largest rare disease data sets and remain a leader in genomics.

25 years later, we have amassed one of the world’s largest rare disease datasets and remain a leader in genomics.

Today, we are powered by our industry-leading genomic interpretation platform, and we believe exome and genome testing will become the standard for diagnosis of genetic disease, with the potential to transform healthcare and improve patients’ quality of life.

1 unchanged sentence

Targeted genetic tests and panel testing make up the vast majority of diagnostics tests ordered today.

While panel testing can be immensely valuable, it has an increasing limitation as we move towards genetic-based healthcare.

While panel testing can be useful, it has an increasing limitation as we move towards genetic-based healthcare.

Panels only allow you to test for insights that physicians predefine based on symptoms, which can lead to inconclusive results and an inefficient process.

2 unchanged sentences

The barrier to having actionable information from a genomic sequence is significant—and not just due to costs, which are coming down.

The less-discussed barrier to having actionable information lies in the ability to process a genome’s worth of information—quickly and scalably—and to deliver

both a result that a clinician can easily act upon to help a patient and a robust dataset that enables clinicians to drive precise diagnosis and researchers to develop and advance therapeutics.

The less-discussed barrier to having actionable information lies in the ability to process a genome’s worth of information—quickly and scalably—and to deliver both a result that a clinician can easily act upon to help a patient and a robust dataset that enables clinicians to drive precise diagnosis and personalized health plans, and researchers to develop and advance therapeutics.

Most companies in today’s genetics industry are taking a test-by-test approach to cross the chasm from genetics early adopters to genome-guided healthcare in the mainstream market.

4 unchanged sentences

While most of the industry has focused on panels, we have focused on exome and whole genome developing structured gene-disease knowledge curated by our team of experts to power automated interpretation and reporting.

Table of Co ntents

The genome is composed of 3 billion “letters”, or base pairs, of DNA.

5 unchanged sentences

Exome and genome sequencing can find different genetic alterations, or variants, that more targeted tests miss and are especially useful when the timing is critical to directing or altering medical management.

With over 20 years of operation, GeneDx has a proven track record of expertise in genetic testing.

We launched the industry’s first commercially available next generation sequencing panels in 2008, pioneered exome sequencing in 2012 and have sequenced over 500,000 exomes to date.

We have performed over a million genetic tests and worked tirelessly to develop:

With 25 years of operation, GeneDx has a proven track record of expertise in genetic testing.

We launched the industry’s first commercially available next generation sequencing panels in 2008, pioneered exome sequencing in 2012 and have sequenced over 750,000 exomes and genomes to date.

We have performed over one million genetic tests and worked tirelessly to develop:

• A curated database of disease-associated genomic variants;

7 unchanged sentences

Advanced Technology with a Human Touch

Our team includes approximately 250 genetic counselors, physicians, scientists, and clinical and molecular genomics specialists.

Our team includes over 200 genetic counselors, physicians, scientists, and clinical and molecular genomics specialists.

We believe we are one of the industry’s leading genetic testing experts.

1 unchanged sentence

to provide personalized and actionable health insights.

Our years of exome and genome sequencing experience have provided us with a substantial dataset, including over 2.7 million structured phenotypes with nearly 60% of all exomes to date processed as parent-child trios.

Our years of exome and genome sequencing experience have provided us with a substantial dataset, including over 6 million structured phenotypes with approximately 60% of all exomes/genomes to date processed as parent-child trios.

We have invested resources over time to annotate the phenotypes and sequence the parents of patients, because their genetic sequences can often provide additional diagnostic information, potentially improving the precision of genetic analysis.

Importantly, we have served the Medicaid population for nearly a decade ahead of the first state to enact health coverage for exome/genome and as such, our data set is highly diversified matching the demographic dispersion of the United States.

In addition, the data from more families allows us to continually improve interpretation of genetic code and variants that may cause disease.

3 unchanged sentences

Combined with our proprietary, state-of-the-art variant identification software, our ability to deliver highly accurate test results makes finding definitive diagnoses, even in complex cases, possible.

Implemented with expert oversight, our advanced interpretation methods incorporate automation,

bioinformatics, and cloud-based machine learning, enabling efficient discovery of genetic differences at previously undetectable levels.

As the number of new patients we test grows, so does our database, as new data increases the potential for greater insights.

Implemented with expert oversight, our advanced interpretation methods incorporate automation, bioinformatics, and cloud-based machine learning, enabling efficient discovery of genetic differences at previously undetectable levels.

As the number of new patients we test grows, so does our database, and the new data increases the potential for greater insights.

As we capture more genomic and phenotypic data, we hope to fuel a positive feedback cycle of discovery that continuously delivers more value for patients, providers and healthcare partners.

Market Opportunity

Our primary growth engine in the short term will be expanding our current market-leading exome sequencing capabilities in the outpatient setting, including geneticists, pediatric development specialists, and other pediatric specialists, as well as the in-patient setting, also referred to as Neonatal Intensive Care Units (“NICU”).

As we plan for longer-term growth, we believe there is a large data partnership opportunity with biopharmaceutical (“biopharma”) companies, international testing opportunities, as well as a market to provide interpretation and information services for customers that sequence locally but look to GeneDx for analysis and interpretation.

Our primary growth engine in the short term will be expanding our current market-leading exome and genome sequencing capabilities in the outpatient setting, including geneticists, pediatric development specialists, and other pediatric specialists, as well as the neonatal in-patient setting, also referred to as Neonatal Intensive Care Units (“NICU”).

Over time we fully expect more and more use cases and reimbursement pathways for exome and genome to open up across a wide spectrum of pediatric and adult diseases, conditions and disorders.

As we plan for longer-term growth, we aim to bring whole genome newborn screening to

Table of Co ntents

the market, supported with the launch of a new customer experience platform for non-geneticists, patients and caregivers, and evidence generation to establish the clinical and economic benefits of screening.

Also, as we plan for longer-term growth, we believe there is a large data partnership opportunity with biopharmaceutical (“biopharma”) companies, international testing opportunities, as well as a market to provide interpretation and information services for customers that sequence locally but look to GeneDx for analysis and interpretation.

We believe we are particularly well-suited for helping rare disease and pediatric developmental disorder patients, their care teams and biopharma companies today.

This is a large market with immense unmet medical need.

There are nearly 7,000 individual diseases affecting nearly 10% of the total population in the United States, of which 50% are children.

There are over 7,000 individual diseases affecting nearly 10% of the total population in the United States, of which 50% are children.

As a result, there are over 700 medicines in development for these diseases, with a regulatory pathway facilitated by the Orphan Drug Act of 1983.

By providing the precise genetic diagnosis of patients with rare disease, our expertise and technology may provide researchers and biopharma companies with the information needed to develop and commercialize a new treatment for the disease.

Our longer-term growth strategy is the expansion into whole genome testing for Adult Disorders and Newborn Screening, supported with the launch of a new customer experience platform for non-geneticists, patients and caregivers, and evidence generation to establish the clinical and economic benefits of screening.

By unlocking the value of the products, our knowledge base, network of relationships, and expertise, our team is well positioned to lead what we believe is a nearly $30 billion global market opportunity.

We believe that the span and depth of our experience and dataset allows us to return more positive findings and thus clinical utility both immediately and over time through reanalysis.

Importantly, we believe that we return fewer uncertain findings compared to public data sets, which makes our analysis easier to interpret outside of the medical genetics community.

At the same time, we have improved quality and speed to delivery of exome and genome tests and have significantly lowered exome sequencing costs since 2013.

By unlocking the value of the products, our knowledge base, network of relationships, and expertise, our team is well positioned to lead what we believe is a nearly a $25 billion global market opportunity in pediatric and rare disease and a nearly $20 billion global market opportunity for adult disease and disorders.

We believe that the span and depth of our experience and dataset allows us to return more positive findings and thus clinical utility, both immediately and over time through reanalysis, than other sources.

Importantly, we believe that we return fewer uncertain findings compared to public datasets, which makes our analysis easier to interpret outside of the medical genetics community.

At the same time, we have improved quality and speed to delivery of exome and genome tests and have significantly lowered the associated sequencing costs since initial launch in 2013.

Much of this decline was driven by reduced sequencing costs shared across the industry;

however, we have reduced costs in the interpretation layer through accumulating data and experience, and we expect further decline in costs going forward.

however, we have reduced wet labor and processing costs and in the interpretation layer through accumulating data and experience, and we expect further decline in costs going forward.

Leveraging these capabilities, we aim to be the global market leader in the development and delivery of reliable, actionable, scalable exome and genome sequencing and interpretation and information services.

2 unchanged sentences

• Expand the utilization of industry-leading exome and genome sequencing beyond the genetic experts into the non-expert setting, potentially creating a new standard of care which enables faster diagnoses, reduces suffering, and helps healthcare systems save money.

In the near term, our principal target markets will be settings with the most vulnerable patients who can benefit the most including, but not limited to, NICU and patients with Pediatric Developmental Disorders.

In the near term, our principal target markets will be settings with the most vulnerable patients who can benefit the most including, but not limited to, NICU and patients with pediatric developmental disorders (“Pediatric Developmental Disorders”).

To achieve these objectives, we:

12 unchanged sentences

We will sequence once, and analyze for life.

• Plan to optimize our services to become a solutions provider of choice for biopharma.

Such solutions will focus on three value-added services:

Table of Co ntents

• Plan to optimize our services to become a solutions provider of choice for biopharma companies.

Such solutions will focus on value-added services such as:

◦ Finding rare disease patients for clinical trial recruitment and/or delivery of targeted therapeutics.

◦ UNDERSTAND:

◦ Supporting research and development for targeted therapies with analytic reports leveraging clinicogenomics data across multiple therapeutic areas with an initial emphasis in rare disease.

In the long term, providing a therapeutic area agnostic platform to access to data, patients and insights for real world evidence and data to support end-to-end drug discovery pipeline.

◦ Providing a therapeutic area agnostic platform to access to data, patients and insights for real world evidence and data to support end-to-end drug discovery pipeline.

Research and Development

Our research and development activities include information technology, product development, customer experience, medical affairs, collaborations and research.

Our research and development activities include information technology, product development, customer experience, medical affairs, collaborations and research, including health economic and outcomes research (“HEOR”).

These activities are principally focused on our efforts to develop and improve the software we use to analyze data, process genomic test orders, deliver reports, and improve customer experience.

We are also participating in certain collaborative studies aimed to provide evidence of the clinical and economic benefit for exome and whole genome sequencing.

Two such studies currently underway include the SeqFirst study—in collaboration with Seattle Children’s Hospital and University of Washington—which is designed to demonstrate the broad utility of rapid whole genome sequencing for critically ill newborns and, the Genomic Uniform-Screening Against Rare Diseases In All Newborns (“GUARDIAN”) study—in collaboration with New York-Presbyterian, Columbia University, New York State Department of Health and Illumina—which is designed to assess whole genome sequencing to screen newborns for more conditions than those currently included in standard newborn screening in the United States.

Two such studies currently underway include the SeqFirst study—in collaboration with Seattle Children’s Hospital and University of Washington—which is designed to demonstrate the broad utility of rapid whole genome sequencing for critically ill newborns and, the Genomic Uniform-Screening Against Rare Diseases In All Newborns (“GUARDIAN”) study—in collaboration with New York-Presbyterian, Columbia University, New York State Department of Health and Illumina, Inc.—which is designed to assess whole genome sequencing to screen newborns for more conditions than those currently included in standard newborn screening in the United States.

The goals of these studies are to drive earlier diagnosis and treatment to improve the health of the newborns who participate in such studies, generate evidence to support the expansion of newborn screening through genomic sequencing, and characterize the prevalence and natural history of rare genetic conditions.

Our competitors include companies that offer molecular genetic testing and consulting services, including specialty and reference laboratories that offer traditional single- and multi-gene tests and biopharmaceutical companies.

In addition, there are a large number of new entrants into the market for genetic information ranging from informatics and analysis pipeline developers to focused, integrated providers of genetic tools and services for health and wellness, including Illumina, Inc., which is also one of our suppliers.

In addition to the companies that currently offer traditional genetic testing services and research centers, other established and emerging healthcare, information technology and service companies may commercialize competitive products including informatics, analysis, integrated genetic tools and services for health and wellness.

Principal competitors include companies such as Baylor, Centogene, Exact Sciences, Rady Children’s Hospital as well as other commercial and academic labs.

Principal competitors include companies such as Baylor Genetics, Exact Sciences Corp.

(via Prevention), Rady Children’s Hospital and Tempus (via Ambry Genetics) as well as other commercial and academic labs.

Customers and Seasonality

2 unchanged sentences

We expect over time to achieve a mix of revenue from diagnostic tests, data and information solutions, newborn screening products and information and interpretation services.

Less than 5% of our revenues today are derived from referral sources outside of the United States.

Approximately 2% of our revenues today are derived from referral sources outside of the United States.

We expect over time to increase rest of world revenue as knowledge and understanding of the benefits of exome and whole genome sequencing continue to expand.

We have historically experienced higher revenue in our fourth quarter compared to other quarters in our fiscal year due in part to seasonal demand of our tests from patients who have met their annual insurance deductible.

However, changes in our product and payor mix might cause these historical seasonal patterns to be different than future patterns of revenue or financial performance.

We typically experience higher revenue in our fourth quarter and lower revenue in the first quarter due in part to seasonal demand of our tests from patients who have met their annual insurance deductible.

However, changes in our product and payor mix might cause these seasonal patterns to be different than future patterns of our revenue or financial performance.

For information regarding our customer concentration in relation to certain of the Company’s third-party payors, see Note 2, “ Summary of Significant Accounting Policies ” in the notes to our consolidated financial statements.

We have experienced incrementally less concentration among third-party payors following the exits from reproductive health and somatic tumor testing in 2022.

Raw Materials and Suppliers

1 unchanged sentence

and Twist Biosciences, for certain laboratory reagents, as well as sequencers and other equipment and materials, which we use in our laboratory operations.

Our operations could be interrupted if we encounter delays or difficulties in securing reagents, sequencers or other equipment or materials, and if we cannot obtain an acceptable substitute.

Our operations could be interrupted if we

Table of Co ntents

encounter delays or difficulties in securing reagents, sequencers or other equipment or materials, and if we cannot obtain an acceptable substitute.

Any such interruption could significantly affect our business, financial condition, results of operations and reputation.

9 unchanged sentences

In this regard, we have three pending U.S.

non-provisional utility patent applications and one patent application pending in the European Patent Office.

non-provisional utility patent applications and seven U.S.

provisional patent applications.

The utility patent applications include a U.S.

patent application related to identifying cancer diagnosis from electronic health records using a cancer diagnosis analysis system, a U.S.

patent application related to providing a homologous recombination DNA repair deficiency score for a cancer patient, and U.S.

and European patent applications related to therapeutic treatment for subjects having certain polymorphic markers associated with specific human leukocyte antigen alleles.

patent application related to generating a cancer determination from electronic health records using a cancer determination analysis system, a U.S.

patent application related to providing a homologous recombination DNA repair deficiency score for a cancer patient, and a U.S.

patent application related to therapeutic treatment for subjects having certain polymorphic markers associated with specific human leukocyte antigen alleles.

If patents are issued from the currently pending applications, the earliest patents will begin expiring in the early 2040s, subject to potential extensions of the patent term that will be calculated based on the length of the patent examination process.

The claim scope of any potentially issued patents stemming from the present applications may be narrowed from initial filings due to any amendments that may arise throughout their prosecution.

We do not presently have any patents or patent applications directed to the sequences of specific genes or variants of such genes, nor do we currently rely on any in-licensed gene patent rights of any third party.

The claim scope of any potentially issued patents stemming from the present applications may be narrower than included in the initial filings due to any amendments that may arise throughout their prosecution.

We do not presently have any patents directed to the sequences of specific genes or variants of such genes, nor do we currently rely on any in-licensed gene patent rights of any third party.

We may, in time, seek additional patent protection to protect technology that is not gene-specific and that provides us with a potential competitive advantage as we focus on making comprehensive genetic information less expensive and more broadly available to our customers.

11 unchanged sentences

Accordingly, we may not be able to meaningfully protect our trade secrets.

Table of Co ntents

We own or are applying for various trademarks, service marks, trade names, and product service names in the U.S and other commercially important markets.

4 unchanged sentences

Our team of nearly 1,000 individuals are champions of not only our organization, but our patients, providers and partners.

Our values guide our interactions.

Our model represents the interconnectedness of sometimes opposing values, where both are required to accomplish our mission.

These values are:

• Bravery & Humility

• Openness & Accountability

• Equitability & Integrity

• Rigorous & Efficient Development

• Simplicity & Curiosity

Talent Development

We are committed to developing our workforce.

3 unchanged sentences

We offer competitive compensation to attract and retain high quality talent, and we care for our people so they can focus on our mission.

Our employees' total compensation package includes competitive salary, bonuses or sales incentives, equity and a 401(K) plan with matching opportunities.

Our employees' total compensation package includes competitive salary, bonuses or sales incentives, equity through our equity incentive plans, 401(K) plan with matching opportunities, and the opportunity to participate in our employee stock purchase plan.

Equity participation is provided for certain positions because ownership in the company drives commitment to our long-term success.

17 unchanged sentences

We may also be subject to additional unannounced inspections.

CLIA provides that a state may adopt laboratory regulations that are not inconsistent with those under federal law, and a number of states have implemented their own (sometimes more stringent) laboratory regulatory requirements.

CLIA provides that a state may adopt laboratory regulations consistent with those under federal law, and a number of states have implemented their own (sometimes more stringent) laboratory regulatory requirements.

CLIA does not preempt state laws that have established laboratory quality standards that are at least as stringent as the federal law requirements under CLIA.

State laws may require that nonresident laboratories, or out-of-state laboratories, maintain a laboratory license to perform tests on samples from patients who reside in that state.

Table of Co ntents

may require that nonresident laboratories, or out-of-state laboratories, maintain a laboratory license to perform tests on samples from patients who reside in that state.

As a condition of state licensure, these state laws may require that laboratory personnel meet certain qualifications, specify certain quality control procedures or facility requirements, or prescribe record maintenance requirements.

We maintain state laboratory licenses for our Gaithersburg facility in Maryland, New York, California, Pennsylvania and Rhode Island.

We maintain state laboratory licenses for our Gaithersburg facility in Maryland and in New York, California, Pennsylvania and Rhode Island.

In addition to having a laboratory license in New York, our laboratory is also required to obtain approval on a test-specific basis for the tests it runs as laboratory developed tests (“LDTs”) by the New York Department of Health before specific testing is performed on samples from New York.

10 unchanged sentences

FDA Oversight of Laboratory Developed Tests

We provide our tests as LDTs.

Under the FDA’s regulatory framework, in vitro diagnostic devices (IVDs) are a type of medical device, including tests that can be used in the diagnosis or detection of diseases, such as cancer, or other conditions.

The FDA considers LDTs to be a subset of IVDs that are intended for clinical use and are designed, manufactured, and used within a single laboratory that is certified under CLIA.

Such LDT testing is primarily under the purview of CMS and state agencies that provide oversight over clinical laboratory operations.

Although the FDA has taken the position that it has statutory authority to assure that medical devices, including certain LDTs, are safe and effective for their intended use, the

FDA has historically exercised enforcement discretion with respect to most LDTs and has not required laboratories that furnish LDTs to comply with the agency's requirements for medical devices (e.g., establishment registration, device listing, premarket clearance or approval, quality systems regulations, and post-market controls).

In recent years, the FDA has stated it intends to end its policy of general enforcement discretion and regulate certain LDTs as medical devices.

For example, in 2014 the FDA issued two draft guidance documents that set forth a proposed risk-based regulatory framework that would apply varying levels of FDA oversight to LDTs.

These documents have not been finalized to date.

Subsequently, in August 2020, the U.S.

Department of Health and Human Services – the parent agency of the FDA – announced that the FDA will not require premarket review of LDTs absent notice-and-comment rulemaking, as opposed to through guidance documents and other informal issuances.

In November 2021, the Biden Administration rescinded this policy.

At this time, it is unclear when, or if, the FDA will finalize its plans to end enforcement discretion, and even then, the new regulatory requirements are expected to be phased-in over time.

Nevertheless, the FDA may decide to regulate certain LDTs on a case-by-case basis at any time.

We currently offer an LDT version of certain tests.

Historically, the FDA has exercised a policy of enforcement discretion with respect to most LDTs, whereby the FDA did not actively enforce its medical device regulatory requirements for such tests.

However, at various points in recent years, FDA has indicated that it intends to end enforcement discretion for many tests offered as LDTs, and to require such tests to comply with certain FDA regulatory requirements.

Agency officials have previously expressed significant concerns regarding performance disparities between some LDTs and in vitro diagnostics that have been reviewed, cleared, authorized or approved by the FDA.

Most recently, on April 29, 2024, the FDA published a final rule on LDTs, in which FDA outlines its plans to end enforcement discretion for many LDTs in five stages over a four-year period.

In Phase 1 (effective May 6, 2025), clinical laboratories would be required to comply with medical device (adverse event) reporting, correction/removal reporting, and certain quality systems complaint handling requirements.

In Phase 2 (effective May 6, 2026), clinical laboratories would be required to comply with all other device requirements (e.g., registration/listing, labeling, investigational use), except for remaining quality systems requirements and premarket review.

In Phase 3 (effective May 6, 2027), clinical laboratories would be required to comply with all remaining applicable quality systems requirements.

In Phase 4 (effective November 6, 2027), clinical laboratories would be required to comply with premarket submission requirements for high-risk tests (i.e., tests subject to premarket approval (PMA) requirement).

Finally, in Phase 5 (effective May 6, 2028), clinical laboratories would be required comply with premarket submission requirements for moderate- and low-risk tests (i.e., tests subject to de novo or 510(k) requirement).

The final rule potentially extends enforcement discretion for certain tests – e.g., LDTs approved by the New York State Department of Health, and LDTs first marketed prior to May 6, 2024 which are not modified or are modified in certain limited ways – from certain FDA regulatory requirements, provided certain important limitations have been met.

We are actively reviewing the final rule to evaluate its applicability to our operations, and the extent to which we may be required to modify our operations to comply with its requirements.

Multiple lawsuits have been filed challenging the FDA’s authority to regulate LDTs as medical devices under the Federal Food, Drug, and Cosmetic Act.

Legislative proposals addressing the FDA’s oversight of LDTs have also been introduced in previous Congresses, and we expect that new legislative proposals will be introduced from time-to-time.

For example, versions of the Verifying Accurate Leading-edge IVCT Development (“VALID”) Act have been introduced in Congress several times in recent years, but the VALID Act has not been enacted.

For example, versions of the Verifying Accurate Leading-edge IVCT Development Act (the “VALID Act”) have been introduced in Congress several times in recent years, but the VALID Act has not been enacted.

The VALID Act, as most recently proposed, would create a new category of medical products separate from medical devices called “in vitro clinical tests,” or IVCTs.

As most recently proposed, the VALID Act would modify the Federal Food, Drug, and Cosmetic Act (the “FDCA”) and establish a risk-based approach to imposing requirements related to premarket review, quality systems, and labeling requirements on all IVCTs, including LDTs, but a grandfathering provision would create exemptions from certain requirements for certain LDTs offered for clinical use within 45 days of enactment of the bill.

As most recently proposed, the VALID Act would modify the Federal Food, Drug, and Cosmetic Act (the “FDCA”) and establish a risk-based approach to imposing requirements related to premarket review, quality systems, and labeling requirements on all IVCTs, including LDTs, but a grandfathering provision would create exemptions from certain requirements for certain LDTs (e.g., LDTs first offered for clinical use not later than May

Table of Co ntents

The likelihood that Congress will pass such legislation and the extent to which such legislation may affect the FDA’s plans to regulate certain LDTs as medical devices is difficult to predict at this time.

7 unchanged sentences

Additionally, certain of our diagnostic products in development may be subject to regulation by the FDA and similar international health authorities.

For these products, we would have an obligation to adhere to the FDA’s current Good Manufacturing Practices (“cGMP”) and diagnostic product regulations, including providing for an establishment and product listing with the FDA.

For these products, we would have an obligation to adhere to the FDA’s current Good Manufacturing Practices and diagnostic product regulations, including providing for an establishment and product listing with the FDA.

Additionally, we would be subject to periodic FDA inspections, quality control procedures, and other detailed validation procedures.

If the FDA finds deficiencies in the validation of our manufacturing and quality control practices, it may impose restrictions on marketing specific products until corrected.

Regulation by governmental authorities in the U.S.

and other countries may be a significant factor in how we develop, test, produce and market our diagnostic test products.

Regulation by governmental authorities in the United States and other countries may be a significant factor in how we develop, test, produce and market our diagnostic test products.

Corporate Practice of Medicine

6 unchanged sentences

For example, the U.S.

Occupational Safety and Health Administration (“OSHA”) has established extensive requirements relating specifically to workplace safety for healthcare employers in the United States.

Occupational Safety and Health Administration has established extensive requirements relating specifically to workplace safety for healthcare employers in the United States.

For purposes of transportation, some biological materials and laboratory supplies are classified as hazardous materials and are subject to regulation by one or more of the following:

10 unchanged sentences

The Stark Law also prohibits us from billing for any such prohibited referral.

These prohibitions apply regardless of any intent by the parties to induce or reward referrals or the reasons for the financial relationship and the referral.

These prohibitions apply regardless of any intent by the parties to induce or reward referrals or the

Table of Co ntents

reasons for the financial relationship and the referral.

Several Stark Law exceptions are relevant to many common financial relationships involving clinical laboratories and referring physicians and may be relied upon if all of the elements of the applicable exception are satisfied.

15 unchanged sentences

Rather, the government may evaluate such arrangements on a case-by-case basis, taking into account all facts and circumstances.

In addition, the federal Eliminating Kickbacks in Recovery Act (the “EKRA”), prohibits knowingly and willfully soliciting or receiving any remuneration (including any kickback, bribe or rebate) directly or indirectly, overtly or covertly, in cash or in kind, in return for referring a patient or patronage to a laboratory;

In addition, the federal Eliminating Kickbacks in Recovery Act of 2018 (the “EKRA”), prohibits knowingly and willfully soliciting or receiving any remuneration (including any kickback, bribe or rebate) directly or indirectly, overtly or covertly, in cash or in kind, in return for referring a patient or patronage to a laboratory;

or paying or offering any remuneration (including any kickback, bribe or rebate) directly or indirectly, overtly or covertly, in cash or in kind, to induce a referral of an individual to a laboratory and certain other entities or in exchange for an individual using the services of such entities.

The EKRA applies to all payors including commercial payors and government payors, and EKRA violations result in significant fines and/or up

to 10 years in jail, separate and apart from existing AKS liability.

The EKRA applies to all payors including commercial payors and government payors, and EKRA violations result in significant fines and/or up to 10 years in jail, separate and apart from existing AKS liability.

Several EKRA exceptions are relevant to many common financial relationships involving clinical laboratories and may be relied upon if all of the elements of the applicable exception are satisfied.

11 unchanged sentences

Several states have enacted comparable false claims laws which may be broader in scope and apply regardless of payor.

Table of Co ntents

The Social Security Act includes civil monetary penalty provisions that impose penalties against any person or entity that, among other things, is determined to have presented or caused to be presented a claim to a federal health program that the person knows or should know is for an item or service that was not provided as claimed or is false or fraudulent.

16 unchanged sentences

Clinical and Human Subjects Research Regulations

We may collaborate or support ongoing clinical or other human subjects research that could subject us to a number of laws and regulations pertaining to such research, including, but not limited to the Federal Policy for Protection of Human Subjects (as set forth in the implementing regulations of any signatory federal department or agency), the FDCA and its applicable

implementing regulations at 21 C.F.R.

Parts 11, 50, 54, 56, 58 and 812 and all equivalent legal requirements in other jurisdictions.

9 unchanged sentences

The privacy regulations also set forth certain rights that an individual has with respect to his or her PHI maintained by a covered entity or business associate, including the right to access or amend certain records containing his, her or their PHI, request restrictions on the use or disclosure of his, her or their PHI, or request an accounting of disclosures of his or her PHI.

Table of Co ntents

Covered entities and business associates also must comply with the security regulations, which establish requirements for safeguarding the confidentiality, integrity, and availability of PHI that is electronically transmitted or electronically stored.

10 unchanged sentences

It also tasks HHS with establishing a methodology whereby harmed individuals who were the victims of breaches of unsecured PHI may receive a percentage of the civil monetary penalty paid by the violator.

HHS announced on December 27, 2024, and published in the Federal Register on January 6, 2025, a Notice of Proposed Rulemaking proposing extensive modifications to the HIPAA security regulations.

If finalized, these modifications and could entail significant additional compliance obligations and costs for HIPAA-regulated covered entities and business associates.

Further, there are a number of state laws regarding the privacy and security of health information and personal data that are applicable to our clinical laboratories.

2 unchanged sentences

Failure to maintain compliance, including in connection with changes in state or federal laws regarding privacy or security, could result in civil and/or criminal penalties as well as significant reputational damage and could also have a material adverse effect on our business.

California Consumer Privacy Act

The California Consumer Privacy Act, as amended by the California Privacy Rights Act (“CPRA,” and together with the California Consumer Privacy Act, the “CCPA”), confers to California consumers, among other things, the right to receive notice of the categories of personal information that will be collected by a business, how the business will use and share the personal information, and the categories of third parties who will receive the personal information.

The CCPA also confers rights to access, delete, correct, or request a portable data set, the right to limit processing of “sensitive personal information,” and the right to receive equal service and pricing from a business after exercising a consumer right granted by the CCPA.

California and Other State Consumer Privacy Laws

The California Consumer Privacy Act, as amended by the California Privacy Rights Act (together with the California Consumer Privacy Act, the “CCPA”), confers to California consumers, among other things, the right to receive notice of the categories of personal information that will be collected by a business, how the business will use and share the personal information, and the categories of third parties who will receive the personal information.

The CCPA also confers rights to access, delete, correct, or request a portable dataset, the right to limit processing of “sensitive personal information,” and the right to receive equal service and pricing from a business after exercising a consumer right granted by the CCPA.

In addition, the CCPA allows California consumers the right to opt out of the “sale” of their personal information, which the CCPA defines broadly as any disclosure of personal information to a third party in exchange for monetary or other valuable consideration.

The CCPA also allows California consumers to opt out of the “sharing” of information, which restricts a company’s use of personal information for cross-context behavioral advertising.

The CCPA also requires a business to implement reasonable security procedures to safeguard personal information against unauthorized access, use, or disclosure and imposes purpose limitation, data minimization, data retention and other security compliance obligations on regulated businesses.

The CCPA requires a business to implement reasonable security procedures to safeguard personal information against unauthorized access, use, or disclosure and imposes purpose limitation, data minimization, data retention and other security compliance obligations on regulated businesses.

The CCPA requires businesses to include specific provisions in contracts with third parties that process data on a business’s behalf regarding the third party’s processing and management of such data.

3 unchanged sentences

However, we are required to comply with the CCPA insofar as we collect other categories of California consumers’ personal information, such as information about California-based employees, contractors, business contacts and website visitors.

The CCPA is enforceable through administrative fines of up to $2,500 for each violation, or $7,500 for intentional violations or where we have actual knowledge that the personal information relates to an individual under 16 years of age.

In addition to the CCPA, four new state privacy laws went into effect in 2023, including the Virginia Consumer Data Protection Act, the Utah Consumer Privacy Act, the Colorado Privacy Act, and the Connecticut Personal Data Privacy and Online Monitoring Act.

In 2023, seven other states passed comprehensive consumer data privacy laws, and many others have introduced similar consumer privacy laws.

Table of Co ntents

The CCPA is enforceable through administrative fines of up to $2,500 for each violation, or $7,500 for intentional violations or where the violator has actual knowledge that the personal information relates to an individual under 16 years of age.

In addition to the CCPA, by the end of 2024, there were eight other states that had consumer privacy laws come into effect, including Colorado, Connecticut, Florida, Montana, Oregon, Texas, Utah, and Virginia.

Eight more states will have comprehensive consumer data privacy laws that come into effect in 2025, and many other states have introduced or enacted similar consumer privacy laws.

These new state privacy laws and any potential federal consumer privacy law will and would impose additional data protection obligations on covered businesses, including additional consumer rights, limitations on data uses, new audit requirements for higher risk data and opt outs for certain uses of sensitive data.

9 unchanged sentences

Other Data Protection Laws

There are a growing number of jurisdictions around the globe that have privacy and data protection laws that may apply to us as we enter or expand our business in jurisdictions outside of the U.S.

These laws are typically triggered by a company’s establishment or physical location in the jurisdiction, data processing activities that take place in the jurisdiction, and/or the processing of personal information about individuals located in that jurisdiction that are targeted, for example, by an offer of

goods or services.

Certain data protection laws, such as those in the European Union, (the “EU”) and United Kingdom, are comprehensive in nature and include significant requirements around the processing of personal information, while other jurisdictions may have laws less restrictive or prescriptive than those in the U.S.

There are a growing number of jurisdictions around the globe that have privacy and data protection laws that may apply to us as we enter or expand our business in jurisdictions outside of the United States.

Certain data protection laws, such as those in the European Union, (the “EU”) and United Kingdom (the “UK”), are comprehensive in nature and include significant requirements around the processing of personal information, while other jurisdictions may have laws less restrictive or prescriptive than those in the United States.

Enforcement of these laws varies from jurisdiction to jurisdiction, with a variety of consequences, including civil or criminal penalties, litigation private rights of action, or damage to our reputation.

5 unchanged sentences

Information Blocking Prohibition

On May 1, 2020, the Office of the National Coordinator for Health Information Technology promulgated final regulations under the authority of the 21st Century Cures Act to impose new conditions to obtain and maintain certification of certified health information technology and prohibit certain covered actors, including developers of certified health information technology, health information networks/health information exchanges, and health care providers, from engaging in activities that are likely to interfere with the access, exchange, or use of electronic health information (information blocking).

On May 1, 2020, the Office of the National Coordinator for Health Information Technology (“ONC”) promulgated final regulations under the authority of the 21st Century Cures Act to impose new conditions to obtain and maintain certification of certified health information technology and prohibit certain covered actors, including developers of certified health information

Table of Co ntents

technology, health information networks/health information exchanges, and health care providers, from engaging in activities that are likely to interfere with the access, exchange, or use of electronic health information (information blocking).

The final regulations further defined exceptions for activities that are permissible, even though they may have the effect of interfering with the access, exchange, or use of electronic health information.

The information blocking regulations became effective on April 5, 2021.

Under the 21st Century Cures Act, health care providers that violate the information blocking prohibition will be subject to appropriate disincentives, which the HHS has yet to establish through required rulemaking.

Developers of certified information technology and health information networks/health information exchanges, however, may be subject to civil monetary penalties of up to $1 million per violation.

The HHS Office of Inspector General has the authority to impose such penalties and on April 24, 2020, published a proposed rule to codify new authority in regulation, which the agency proposed would be effective 60 days after it issues a final rule but in no event before November 2, 2020.

The HHS Office of Inspector General has not yet issued a final rule.

The information blocking regulations compliance date was April 5, 2021 and the HHS subsequently issued a final rule called the HTI-1 Rule that, among other things, revised the information blocking regulations, effective March 11, 2024.

Since then, ONC has published in the Federal Register several proposed and final rules that, among other things, propose to or further revise the information blocking regulations.

Under the 21st Century Cures Act, health care providers that violate the information blocking prohibition will be subject to appropriate disincentives.

On July 1, 2024, the HHS published in the Federal Register a final rule to establish such disincentives, effective July 31, 2024.

Developers of certified information technology and health information networks/health information exchanges may be subject to civil monetary penalties of up to $1 million per violation (adjusted for inflation).

The HHS Office of Inspector General has the authority to impose such penalties and on July 3, 2023, published a final rule in the Federal Register codifying new authority in regulation, which became effective September 1, 2023.

On July 29, 2024, HHS published a statement in the Federal Register that, among other things, announced a reorganization of certain roles and functions and renamed ONC the Assistant Secretary for Technology Policy and Office of the National Coordinator for Health Information Technology, or ASTP/ONC.

Federal and State Consumer Protection Laws

1 unchanged sentence

law enforcement agency charged with protecting consumers and enhancing competition across broad sectors of the economy.

The FTC’s primary legal authority with respect to data privacy and security comes from Section 5 of the FTC Act, which prohibits unfair or deceptive acts or practices in the marketplace.

The FTC’s primary legal authority with respect to data privacy and security comes from Section 5 (“Section 5”) of the Federal Trade Commission Act (the “FTC Act”), which prohibits unfair or deceptive acts or practices in the marketplace.

The FTC has increasingly used this broad authority to police data privacy and security, using its powers to investigate and bring lawsuits.

19 unchanged sentences

Under PAMA (as amended) and its implementing regulations, laboratories that realize at least $12,500 in Medicare Clinical Laboratory Fee Schedule (“CLFS”) revenues during the six month reporting period and that receive the majority of their Medicare revenue from payments made under the CLFS or the Physician Fee Schedule must report, beginning in 2017, and then in 2026 and every three years thereafter (or annually for “advanced diagnostic laboratory tests”), private payor payment rates and volumes for their tests.

None of our tests meet the current definition of advanced diagnostic laboratory tests, and therefore we believe we are required to report private payor rates for our tests on an every-three-years basis, starting next in 2024.

CMS uses the rates and volumes reported by laboratories to develop Medicare payment rates for the tests equal to the volume-weighted median of the private payor payment rates for the tests.

None of our tests meet the current definition of advanced diagnostic laboratory tests, and therefore we believe we are required to report private payor rates

Table of Co ntents

for our tests on an every-three-years basis, starting next in 2026.

The Centers for Medicare & Medicaid Services (“CMS”) use the rates and volumes reported by laboratories to develop Medicare payment rates for the tests equal to the volume-weighted median of the private payor payment rates for the tests.

Laboratories that fail to report the required payment information may be subject to substantial civil money penalties.

As set forth under the regulations implementing PAMA, for tests furnished on or after January 1, 2018, Medicare payments for clinical diagnostic laboratory tests are paid based upon these reported private payor rates.

For clinical diagnostic laboratory tests that are assigned a new or substantially revised code, initial payment rates for clinical diagnostic laboratory tests that are not advanced diagnostic laboratory tests will be assigned by the cross-walk or gap-fill methodology, as under prior law.

Initial payment rates for new advanced diagnostic laboratory tests will be based on the actual list charge for the laboratory test.

1 unchanged sentence

Where applicable, reductions to payment rates resulting from the new methodology were limited to 10% per test per year in each of the years 2018 through 2020.

Rates were held at 2020 levels during 2021 and 2022 and will continue to be held at such levels in 2023.

Rates were held at 2020 levels during 2021 through 2024 and will continue to be held at such levels in 2025.

Then, where applicable based upon median private payor rates reported in 2017 or 2026, reduced by up to 15% per test per year in each of 2026 through 2028 (with a second round of private payor rate reporting in 2026 to establish rates for 2027 through 2029).

PAMA codified Medicare coverage rules for laboratory tests by requiring any local coverage determination to be made following the local coverage determination process.

PAMA also authorizes CMS to consolidate coverage policies for clinical laboratory tests among one to four laboratory-specific Medicare Administrative Contractors (“MACs”).

PAMA also authorizes CMS to consolidate coverage policies for clinical laboratory tests among one to four laboratory-specific Medicare Administrative Contractors.

These same contractors may also be designated to process claims if CMS determines that such a model is appropriate.

3 unchanged sentences

These codes may apply to one or more of our tests if we apply for PLA coding.

Reimbursement and billing for diagnostic services is highly complex, and errors in billing potentially can result denied claims and/or in substantial obligations to repay overpayments to payors.

Reimbursement and billing for diagnostic services is highly complex, and errors in billing potentially can result in denied claims and/or in substantial obligations to repay overpayments to payors.

Laboratories must bill various payors, such as private third-party payors, including managed care organizations (“MCO”), and state and federal health care programs, such as Medicare and Medicaid, and each may have different billing requirements.

15 unchanged sentences

The information contained on our website is not incorporated by reference in this document.

We have used, and intend to continue to use, our website, investor relations website (accessible via our website), and social media accounts, including our X, formerly Twitter, feed @GeneDx, our LinkedIn page and our Facebook page, as a means of disclosing material non-public information and for complying with our disclosure obligations under Regulation FD.

Table of Co ntents

Compared sentence by sentence after normalising whitespace, quotation marks, case and digits, so re-formatting and restated figures do not read as changed language. Wording changes appear as one removal and one addition. The current filing and the prior one are authoritative.

What changed 10-K

Item 1. Business