August 5 : From First-Tier Then to First-Tier Now: Implementing Genome Sequencing for Pediatric Neurodevelopmental Disorders

Genetic testing for pediatric neurodevelopmental disorders has evolved rapidly, with genome sequencing now recognized as a first-tier diagnostic test in updated professional guidelines. This webinar will review the evidence driving this shift, compare historical and current testing approaches, discuss practical considerations for implementation, including insurance coverage and test selection, and highlight clinical cases in which genome sequencing identified diagnoses that would likely have been missed by previous first-tier technologies. Attendees will gain practical knowledge to support evidence-based genetic counseling, educate referring providers on current testing recommendations, and incorporate genome sequencing into clinical practice to improve diagnostic outcomes for pediatric patients.

Presented by: 

NSGC Pediatrics and Clinical Genetics SIG
Emily Muth, MS, CGC
Jillian Kirk, MS, CGC

Learning Objectives:

1. Describe recent changes in professional guidelines supporting genome sequencing as a first-tier diagnostic test for pediatric patients with neurodevelopmental conditions.
2. Apply evidence from clinical case examples to identify scenarios in which genome sequencing can provide diagnoses that would likely be missed using older testing strategies.
3. Discuss practical considerations for implementing genome sequencing in clinical practice, including insurance coverage, test selection, and genetic counseling implications.
4. Describe how provider education on current genetic testing recommendations can facilitate earlier diagnosis of neurodevelopmental conditions, improving access and promoting equitable care.