Charting Pediatrics

Genetic Testing in Pediatrics


Listen Later

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.

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.

...more
View all episodesView all episodes
Download on the App Store

Charting PediatricsBy Children's Hospital Colorado

  • 4.9
  • 4.9
  • 4.9
  • 4.9
  • 4.9

4.9

260 ratings


More shows like Charting Pediatrics

View all
EMCrit FOAM Feed by Scott D. Weingart, MD FCCM

EMCrit FOAM Feed

1,877 Listeners

Emergency Medicine Cases by Dr. Anton Helman

Emergency Medicine Cases

549 Listeners

AFP: American Family Physician Podcast by American Academy of Family Physicians

AFP: American Family Physician Podcast

701 Listeners

JAMA Clinical Reviews by JAMA Network

JAMA Clinical Reviews

504 Listeners

Primary Care Perspectives by Children’s Hospital of Philadelphia

Primary Care Perspectives

128 Listeners

White Coat Investor Podcast by Dr. Jim Dahle of the White Coat Investor

White Coat Investor Podcast

2,455 Listeners

The Curbsiders Internal Medicine Podcast by The Curbsiders Internal Medicine Podcast

The Curbsiders Internal Medicine Podcast

3,374 Listeners

Core IM | Internal Medicine Podcast by Core IM Team

Core IM | Internal Medicine Podcast

1,150 Listeners

The Clinical Problem Solvers by The Clinical Problem Solvers

The Clinical Problem Solvers

518 Listeners

Cardionerds: A Cardiology Podcast by CardioNerds

Cardionerds: A Cardiology Podcast

437 Listeners

The PedsDocTalk Podcast: Child Health, Development & Parenting—From a Pediatrician Mom by Dr. Mona Amin

The PedsDocTalk Podcast: Child Health, Development & Parenting—From a Pediatrician Mom

1,491 Listeners

Pediatrics On Call by AAP - American Academy of Pediatrics

Pediatrics On Call

230 Listeners

The Cribsiders by The Cribsiders

The Cribsiders

320 Listeners

Rapid Response RN by Sarah Lorenzini

Rapid Response RN

452 Listeners

Ninja Nerd by Ninja Nerd

Ninja Nerd

325 Listeners