GeneDx Infinity™ Pioneers a New Era of Genetic Medicine with its Introduction at the American Academy of Pediatrics National Conference

September 25, 2025 at 08:00 AM EDT

Infinity fuels industry-leading ExomeDx^™and GenomeDx^™ testing, delivering the fastest and most accurate rare disease diagnoses

Trusted as the #1 ranked genomic testing brand among pediatric and genetic providers

GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced it will introduce pediatricians to GeneDx’s Infinity, the company’s proprietary dataset, at the American Academy of Pediatrics (AAP) National Conference & Exhibition taking place this weekend September 26 to 30 in Denver, CO. Infinity is the largest rare disease dataset and is one of the most powerful resources to accelerate diagnosis and fuel drug discovery. It serves as the foundation for rare disease insights and powers GeneDx's ExomeDx and GenomeDx, the most trusted tests in rare disease diagnosis.

For more than 25 years, genetics experts have relied on Infinity as the gold-standard for rare disease insights due to its unmatched scale, depth and diversity, dramatically increasing the likelihood of diagnosing rare diseases. As the most trusted name in pediatric genomics, GeneDx leads the U.S. clinical exome and genome market, with over 80 percent of geneticists choosing the company for its superior diagnostic yield and fewer inconclusive results.

With the AAP’s recent guidance recommending exome and genome sequencing as a first-tier test for children with global developmental delay or intellectual disability, pediatricians can now harness the power of Infinity to help deliver more answers for their patients.

Growing more powerful with each test, today Infinity includes data from:

More than 2.5 million genomic patients, including nearly 1 million exomes and genomes
Over 7 million phenotypic data points, for unparalleled clinical context
Greater than 50% non-European representation, to ensure inclusive and equitable insights
More than 60% of tests augmented by parent samples, to unlock deeper and more definitive insights

“One of the biggest challenges in diagnosing children with rare diseases is the ability to accurately interpret a genome’s worth of information at scale, and with GeneDx Infinity, no one can deliver on that at scale like GeneDx,” said Katherine Stueland, President and CEO of GeneDx. “When providers choose GeneDx, they’re not just giving one family the fastest most definitive answer, they’re contributing to something bigger, unlocking answers for the next family. Each test strengthens Infinity’s impact, the insights get sharper and the path to the next breakthrough discovery gets shorter. With Infinity, providers aren’t just diagnosing patients, they’re fueling the future of genetic medicine.”

“The scale and depth of GeneDx’s dataset make it an incredibly valuable resource to continue driving genetic diagnosis and discovery,” said Dr. Heidi Rehm, Professor of Pathology at Massachusetts General Hospital and the Broad Institute of MIT and Harvard. “By bringing together nearly one million exomes and genomes with millions of phenotypic datapoints, GeneDx has built a dataset that is both powerful and uniquely diverse. What sets it apart is not just its size – but the representation of populations across ancestries – mirroring the diversity of the U.S. itself. This breadth is critical for accurate variant interpretation, reducing disparities in genetic medicine, and addressing long-standing gaps in access to care. With a resource like this, we can accelerate diagnoses, reveal new gene–disease relationships, and deliver more equitable outcomes for the children and families who need answers most.”

Championing Pediatrician Adoption

At AAP, GeneDx will engage with pediatricians and advocacy leaders to explore how Infinity can support equitable access to genomic testing and improve diagnostic yield across diverse populations. GeneDx experts will be available to discuss the new AAP guidance and clinical applications of GeneDx Infinity. During the conference and throughout Denver, GeneDx will spotlight its campaign “Diagnosis is Power.” In addition, GeneDx is proud to serve as a corporate sponsor of the AAP Friends of Children Fund, with a presence woven into conference activities, including at GeneDx’s booth (#1944) where more information about Infinity and GeneDx will be available.

About GeneDx

GeneDx (Nasdaq: WGS) is the global leader in rare disease diagnosis, transforming the way medicine is practiced by making genomics the starting point for health, not the last resort. We bring together unmatched clinical expertise, advanced technology, and the power of GeneDx Infinity™ – the largest rare disease dataset – built over 25 years from millions of genomic tests and deep clinical insights. This unparalleled foundation powers our ExomeDx and GenomeDx tests, giving clinicians the highest likelihood of delivering a timely, accurate diagnosis. Through GeneDx Infinity, we sit at the nexus of rare disease, providing biopharma partners with critical data and insights to accelerate drug development and bring targeted therapies to market faster.

GeneDx is shaping the future of healthcare by moving the standard of care from sick care to proactive healthcare. While our roots are in rare disease diagnosis, our commitment extends beyond – growing with the families we serve – as a trusted partner at every stage of life. For more information, visit genedx.com and connect with us on LinkedIn, Facebook, and Instagram.

Forward Looking Statements

This press release may contain “forward-looking statements” within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the U.S. Private Securities Litigation Reform Act of 1995. These forward-looking statements generally are identified by the words “believe,” “project,” “expect,” “anticipate,” “estimate,” “intend,” “strategy,” “future,” “opportunity,” “plan,” “may,” “should,” “will,” “would,” “will be,” “will continue,” “will likely result,” and similar expressions. 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. Many factors could cause actual future events to differ materially from the forward-looking statements in this press release, including but not limited to: (i) our ability to implement business plans, goals and forecasts, and identify and realize additional opportunities, (ii) the risk of downturns and a changing regulatory landscape in the highly competitive healthcare industry, (iii) the size and growth of the market in which we operate, (iv) our ability to pursue our new strategic direction, and (vi) our ability to enhance our artificial intelligence tools that we use in our clinical interpretation platform. The foregoing list of factors is not exhaustive. A further list and description of risks, uncertainties and other matters can be found in the “Risk Factors” section of our Annual Report on Form 10-K for the fiscal year ended December 31, 2024, and other documents filed by us from time to time with the SEC. These filings identify and address other important risks and uncertainties that could cause actual events and results to differ materially from those contained in the forward-looking statements. Forward-looking statements speak only as of the date they are made. Readers are cautioned not to put undue reliance on forward-looking statements, and we assume no obligation and do not intend to update or revise these forward-looking statements, whether as a result of new information, future events, or otherwise. We do not give any assurance that we will achieve our expectations.

View source version on businesswire.com: https://www.businesswire.com/news/home/20250925284526/en/

Contacts

Investor Relations:

Investors@GeneDx.com

Media:

Press@GeneDx.com

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GeneDx Infinity™ Pioneers a New Era of Genetic Medicine with its Introduction at the American Academy of Pediatrics National Conference

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