EP 142: From genome to bedside: How genetics is transforming modern medical practice with Dr. Andrea Gropman
The Genetics Podcast
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Advancements in Genetic Medicine and the Impact of Insurance on Genome Sequencing
The chapter features a guest with expertise in child neurology, clinical and biochemical genetics, and developmental pediatrics, discussing their research on using imaging technologies for biomarkers in inborn errors in metabolism. They delve into their journey from medical school to combining neurology and genetics, and their work with patients linked to ureacyclic disorders, mitochondrial disorders, and Smith-McGinnis syndrome. The speaker reflects on the evolution of genetic testing in medical practice, challenges in diagnosing patients without a conclusive answer, and the impact of insurance coverage on accessing genome sequencing in the US.
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