# Genetic Testing in Pediatrics

Page: https://stenobird.com/podcast/charting-pediatrics-761647/genetic-testing-in-pediatrics
Text version: https://stenobird.com/podcast/charting-pediatrics-761647/genetic-testing-in-pediatrics.md
Podcast: [Charting Pediatrics](https://stenobird.com/podcast/charting-pediatrics-761647)
Published: 2026-05-19T08:00:00+00:00
Episode link: https://chartingpediatrics.libsyn.com/genetic-testing-in-pediatrics
Audio file: https://traffic.libsyn.com/secure/chartingpediatrics/5.19.26_Genetic_Testing_in_Pediatrics_-_Charting_Pediatrics_Podcast_Epsiode_.mp3?dest-id=533132
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JSON: https://stenobird.com/v1/public/podcasts/charting-pediatrics-761647/episodes/genetic-testing-in-pediatrics
Duration seconds: 1998

## Resource

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 M edical D irector of P recision M edicine C linical I nformatics, as well as the D irector of the M itochondrial C are N etwork C linic at Children's Hospital Colorado. Dr. Saenz specializes in clinical genetics and dysmorphology. She is the M edical D irector of P recision Me dicine E ducation and F amily E ngagement. They both are faculty members at the University of Colorado School of Medicine. Some highlights from this episode include: Recent advances making genetic testing more accessible to patients How the rise of exome and genome sequencing has changed the diagnostic approach in pediatrics Secondary findings and how they should be discussed in advanced Practical advice for a pediatrician who feels overwhelmed to order and interpret these tests For more information on Children's Colorado, visit: childrenscolorado.org .

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## Transcript

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