Guests: Eric Topol, MD, Cardiologist, Genetic Researcher, and Technologist
Listen (4:55) DNA sequencing has come a long way since the Human Genome Project
Listen (5:01) How should patients know if they should get their genome sequenced?
Listen (3:29) What are the challenges to getting your genome sequenced and interpreted?
Listen (4:15) What hope does genomics offer to those with rare disease?
We start the series with a show about genomics, because this is often where a diagnosis begins--looking at the patient’s genome for causal mutations. Dr. Topol is a highly sought after expert who helps families with patients of a rare disease at the renowned Scripps Institute in La Jolla, CA. He’s also the author of a book, The Creative Destruction of Medicine, which describes the impact of new technologies such as DNA sequencing and mobile smartphones to change forever the practice of medicine.
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"Rare Disease Horizons: The Hope of New Research and Technology" is underwritten by the Rare Genomics Institute.