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CareTalk: Healthcare. Unfiltered.

How Genomics Is Transforming Rare Disease Care w/ Katherine Stueland, CEO, GeneDX

CareTalk: Healthcare. Unfiltered. · 2026-04-10 · 25 min

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Send us Fan Mail One in six children has a developmental delay, and it takes an average of five years to get a diagnosis for a genetic disease. But it doesn't have to. The technology to get answers in 48 hours already exists. Katherine Stueland, CEO, GeneDx joins host John Driscoll to discuss why rare genetic diseases are far more common than most people realize, how whole genome sequencing is transforming pediatric care, and what it will take to bring precision medicine to every child who needs it. ️️ABOUT KATHERINE STUELAND Katherine Stueland has dedicated her career to transforming healthcare by leading patient-centric businesses. Her career has spanned supporting the FDA approval of several rare disease therapeutics, the first protease inhibitor for HIV/AIDS and the first cancer immunotherapy, all in partnership with the powerful voices of patient advocates. Katherine has been a central figure in moving healthcare forward by integrating genomic information to enhance the accuracy and effectiveness of diagnosing cancer and rare diseases.

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