Charting Pediatrics

Genetic Testing in Pediatrics

May 19, 2026·33 min
Episode Description from the Publisher

Genetic testing is no longer a distant, specialized tool reserved for rare disease clinics or academic centers. It's showing up in pediatric practice. For example, pediatricians are increasingly considering genetic diagnoses in children with developmental delays outside the normal range. A NICU graduate may already carry a genetic diagnosis when they see their pediatrician after discharge. What does the practicing pediatric provider need to understand about ordering and interpreting genetic tests?  In this episode, we unpack how community pediatricians can make sense of the world of genomics. Joining us for this robust conversation are Austin Larson, MD, and Margarita Saenz, MD. Dr. Larson is a pediatric medical and biochemical geneticist. He is the Medical Director of Precision Medicine Clinical Informatics, as well as the Director of the Mitochondrial Care Network Clinic at Children's Hospital Colorado. Dr. Saenz specializes in clinical genetics and dysmorphology. She is the Medical Director of <

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