Episode 272: Genomics for Rare Diseases With Katherine Stueland
About this episode
Chadi Nabhan interviews Katherine Stueland about the impact of genomic sequencing on diagnosing rare diseases in pediatric patients.
Chadi sits down with Katherine Stueland, President and CEO of GeneDx, to explore how genomic sequencing is transforming the diagnosis of rare diseases—especially for pediatric patients who often endure years searching for answers. She discusses the company’s work analyzing the full genome to uncover gene–disease correlations, its efforts to bring advanced genetic testing directly into pediatricians’ offices through education and access initiatives, and how its massive rare-disease dataset is ...
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