Episode 272: Genomics for Rare Diseases With Katherine Stueland

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 helping clinicians deliver faster, more precise diagnoses. The conversation also looks ahead to the expanding role of genomics in adult conditions such as neurodegenerative diseases, the potential of partnerships with biopharma, and how AI-driven analysis of large genomic datasets is accelerating discovery and precision medicine.Check out Chadi’s website for all Healthcare Unfiltered episodes and other content. https://www.chadinabhan.com/Watch all Healthcare Unfiltered episodes on YouTube. https://www.youtube.com/channel/UCjiJPTpIJdIiukcq0UaMFsA