The evolving state of exome and genome sequencing

Rare diseases, defined in the U.S. as conditions affecting fewer than 200,000 people, can take years, if not decades, to diagnose. About 10,000 rare diseases affect 30 million Americans, and half of those patients are children.

What if rare diseases could be identified early and treated proactively before they progress? That is becoming more possible thanks to advances in genetic testing. One company, GeneDx, is on a mission to address diagnostic challenges through faster, more affordable genome testing.

To explain the evolution of this technology, how it is changing lives and where it may go in the future, Senior Writer Anastassia Gliadkovskaya speaks with GeneDx CEO Katherine Stueland.

To learn more about the topics in this episode: 

• RNA sequencing spots 40% more cancer mutations in children than standard genetic tests: study
• Regeneron, Illumina and more back Truveta for 10M genome sequencing project
• Survey: Many rare disease patients struggle to navigate care

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