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

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.”