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

GeneDx (Nasdaq: WGS), 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.”