One in 10 Americans has a rare disease, and about half of them are children—but it takes about five years on average for kids with rare diseases to get a diagnosis in the U.S. Parents of children who show signs of developmental delay are often told by doctors to “wait and see,” partly because testing can be onerous, says Katherine Stueland, CEO of GeneDx. The company specializes in testing for thousands of rare diseases and genetic causes of conditions including cerebral palsy and autism, and aims to help every child who needs it to get tested early and efficiently, so they can get help as soon as possible. The company can provide a diagnosis in as little as 48 hours, Stueland says.
In June, the American Academy of Pediatrics issued new guidance that empowers pediatricians to directly and promptly order genetic testing for children who show early signs of developmental delay—a change that Stueland has advocated for. GeneDx also joined a multi-state initiative in 2025 that aims to screen some 30,000 newborns for hundreds of genetic conditions over three years. And in October, the company was granted a special designation from the U.S. Food and Drug Administration, which recognized its tests as having the potential to provide more effective diagnoses for debilitating diseases.