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Episode 386: #90-2 Pediatric Neurology: Genome Testing

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Synopsis

In Episode 2 of our pediatric neurology series, we explore how advances in diagnostic technology have transformed the field of neurology. Our guests discuss the evolution of neurologic evaluation - from early ultrasound imaging to CT and MRI - and how modern imaging has revolutionized the ability to diagnose and understand neurologic disease in children.Host Paul Wirkus, MD, FAAP and guest Josh Bonkowsky, MD also examine the growing role of genomic testing, which is increasingly available in clinical practice and providing families with greater diagnostic clarity. Alongside these advances come important philosophical and ethical questions: What is the value of diagnosing a condition when no cure exists? How much information do families want, and how should that information be shared?Our guest discusses a “leveled results” approach to genomic testing, emphasizing shared decision-making and giving families meaningful input into how much information they receive. Throughout the episode, the focus remains on help