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Why does it take five years to diagnose a child with a genetic disease when the answer is available in 48 hours?

In this clip from our episode “How Genomics Is Transforming Rare Disease Care”, host John Driscoll and guest Katherine Stueland, CEO of GeneDx, expose one of the most frustrating gaps in pediatric medicine today.

🎙️⚕️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.

In June 2021, Katherine was named President and CEO of GeneDx (Nasdaq: WGS), a company that emerged from the National Institutes of Health and today is transforming healthcare through genomic insights with a mission to empower everyone to live their healthiest lives through the power of genomics. GeneDx delivers personalized and actionable health insights to inform diagnosis, direct treatment and drive drug discovery. Since joining GeneDx, she focused the business on its industry-leading exome and genome testing and interpretation products, fueled by GeneDx Infinity™ the world’s largest genomic rare disease data set. Under Katherine’s leadership, GeneDx has nearly tripled its sequencing capacity, completing over 1 million exomes and genomes while achieving profitability.

Recognized for these achievements, Katherine was named the 2026 TIME100 Health list, honoring the world’s most influential health leaders. In 2025 she was also named to CNBC Changemakers: Women Transforming Business List, and GeneDx was named of Fast Company Most Innovative Companies. In 2023, Fierce Pharma recognized Katherine as one of the most influential people in biotech.

Katherine serves on the Board of Directors for the American Clinical Laboratory Association (ACLA), the national trade association for leading laboratories, advancing policies that improve patient outcomes, expand access to high-quality diagnostics, and enable personalized care. She also serves on the JED Foundation Leadership Council, a nonprofit organization that works to prevent suicide and protect the emotional health of young adults and teens as part of her lifetime commitment to help improve mental health. Katherine graduated from Miami University in Oxford, Ohio, with a bachelor’s degree in science and English literature.

🎙️⚕️ABOUT CARETALK
CareTalk is a weekly podcast that provides an incisive, no B.S. view of the US healthcare industry. Join co-hosts John Driscoll (President U.S. Healthcare and EVP, Walgreens Boots Alliance) and David Williams (President, Health Business Group) as they debate the latest in US healthcare news, business and policy.

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