GAITHERSBURG, Md.– GeneDx (Nasdaq: WGS), a leader in genomic insights for improved health outcomes, announced it will introduce pediatricians to its proprietary Infinity dataset at the American Academy of Pediatrics (AAP) National Conference & Exhibition, taking place September 26–30 in Denver.
Infinity is billed as the largest rare disease dataset in the world, designed to accelerate diagnoses and fuel drug discovery. It underpins the company’s ExomeDx and GenomeDx testing platforms, which are widely used in rare disease diagnosis.
For more than 25 years, GeneDx has leveraged Infinity to expand diagnostic capabilities. The dataset is known for its unmatched scale, depth and diversity, helping providers achieve faster and more accurate results. The company leads the U.S. clinical exome and genome market, with over 80 percent of geneticists choosing GeneDx for its diagnostic yield and fewer inconclusive outcomes.
The launch comes as the AAP recently recommended exome and genome sequencing as a first-tier test for children with global developmental delay or intellectual disability. GeneDx says Infinity will now empower pediatricians to deliver more answers for families in need.
Infinity currently draws on data from more than 2.5 million genomic patients, including nearly one million exomes and genomes. It incorporates over 7 million phenotypic data points, features more than 50 percent non-European representation, and includes parental samples in over 60 percent of cases, adding context and increasing accuracy.
“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.”
Dr. Heidi Rehm, Professor of Pathology at Massachusetts General Hospital and the Broad Institute of MIT and Harvard, added: “The scale and depth of GeneDx’s dataset make it an incredibly valuable resource to continue driving genetic diagnosis and discovery. 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.”
