Genetic Testing in Pediatrics

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 Precision Medicine Education and Family Engagement. They both are faculty members at the University of Colorado School of Medicine. 

In this episode, our experts discuss:

• 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