Shortening the Diagnostic Journey: Genomics for Every Child - Tomorrow's Cure Season 4 Episode 6

When a child is critically ill and answers are elusive, every day can feel like an eternity. This week on Tomorrow’s Cure from Mayo Clinic, host Cathy Wurzer talks with pediatric geneticist Whitney Thompson, M.D., from Mayo Clinic, genomic medicine pioneer Stephen Kingsmore, M.D., DSc, from Rady Children’s Institute for Genomic Medicine, and Sean George, Ph.D., CEO of Inflection Medicine, about how rapid whole genome sequencing is transforming care for the youngest patients. Together, they explore how clinicians are shortening the “diagnostic odyssey,” pairing sequencing with artificial intelligence to identify potential treatments, and redefining what is possible for rare diseases through programs like Mayo Clinic Children’s BabyFORce. You will also hear powerful patient stories, including children whose lives changed after a genomic diagnosis opened the door to targeted therapies, and a candid discussion about cost, access, and ethics as this technology moves toward wider adoption. Tune in to learn how today’s breakthroughs in pediatric genomics could shape the future of medicine for all of us. Visit https://tomorrowscure.com for more information. This podcast is for informational purposes only and should not be relied upon as professional, medical or legal advice. Always consult with a qualified health care provider for any medical advice. The appearance of any guest does not imply an endorsement of them, their employer, or any entity they represent. The views and opinions are those of the speakers and do not necessarily reflect the views of Mayo Clinic. Reference to any product, service or entity does not constitute an endorsement or recommendation by Mayo Clinic. 0:00 Introduction and Why Rapid Genome Sequencing Matters 1:33 Understanding the Diagnostic Odyssey 3:18 How Whole Genome Sequencing Changed Care 5:19 Making Genomics Accessible Beyond Major Centers 7:19 What Sequencing Reveals About Rare Disorders 10:15 How AI Accelerates Genomic Interpretation 11:21 Baby Jorie: Personalized Treatment Breakthrough 16:39 Gene‑Targeted Therapies and N‑of‑One Medicine 21:29 Expanding Access Through State and Global Programs 25:31 Scaling Genomics and Therapies for All Patients 28:49 Why Experts Are Optimistic About the Future From Mayo Clinic to your inbox, sign-up for free: https://mayocl.in/3e71zfi Visit Mayo Clinic: https://www.mayoclinic.org/appointments?mc_id=us&utm_source=youtube&utm_medium=sm&utm_content=NV6FdxfWBzg&utm_campaign=mayoclinic&geo=national&placementsite=enterprise&cauid=100504 Like Mayo Clinic on Facebook: https://www.facebook.com/mayoclinic/ Follow Mayo Clinic on Instagram: https://www.instagram.com/mayoclinic/ Follow Mayo Clinic on X, formerly Twitter: https://x.com/MayoClinic Follow Mayo Clinic on Threads: https://www.threads.net/@mayoclinic