Behind the Breakthroughs Katherine Stueland: The Diagnostic Odyssey Era Ends with Early Genomics
Nov 19, 2025
Katherine Stueland, CEO of GeneDx and a dedicated patient advocate, shares her journey from raising funds for cystic fibrosis as a child to revolutionizing genomic testing. She highlights the innovative Infinity database that enhances diagnostic accuracy and the importance of newborn screening, revealing a 70% enrollment rate in their Guardian study with promising results. Katherine emphasizes empowering parents as advocates, her turnaround strategy at GeneDx, and the critical need for equitable genomic access for all families.
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Early Start In Patient Advocacy
- Katherine Stueland began patient advocacy at age 11 by raising money for the Cystic Fibrosis Foundation after family losses.
- That early experience shaped her lifelong focus on translating science into meaningful help for patients and families.
Infinity As A Diagnostic Engine
- GeneDx's Infinity database pairs genotypes from >2.5M tests with 7.2M phenotypic data points to improve diagnosis accuracy.
- This pay-it-forward data engine accelerates variant reclassification and weekly gene-disease discovery.
Sequence Early And Actionably
- Run genomes earlier: offer outpatient, NICU, and ultimately newborn sequencing to shorten the diagnostic odyssey.
- Focus only on clinically actionable findings to ensure usefulness and ethical delivery of results.