Rare diseases are defined as diseases that affect fewer than 200,000 people in the United States, and diagnosis can take years, if not decades. Approximately 10,000 rare diseases affect 30 million Americans, half of whom are children.
What if we could identify rare diseases early and aggressively treat them before they progress? Advances in genetic testing are making that more possible. The company GeneDx is on a mission to address diagnostic challenges through faster and more affordable genomic testing.
To explain the evolution of this technology, how it’s changing people’s lives, and where it’s headed in the future, senior writer Anastasia Griadkovskaya speaks with GeneDx CEO Katherine Stuland.

