Purpose: To understand awareness, understanding, and information needs related to the new American Academy of Pediatrics (AAP) guidelines.
Audience: Healthcare Professionals, Families/Caregivers, Patients
Estimated time: 3–5 minutes
Brief Overview: New AAP Guidelines on Genetic Testing
The American Academy of Pediatrics (AAP) recently released updated guidance recommending earlier and more routine use of genetic testing for children with developmental delays, intellectual disability, epilepsy, autism spectrum disorder, or other neurologic concerns. The guidelines emphasize that genetic testing can:
Help identify an underlying diagnosis sooner
Reduce the diagnostic odyssey for families
Inform medical management and care planning
Connect families to condition-specific resources, supports, and clinical trials
Recommended testing may include chromosomal microarray and/or exome or genome sequencing, depending on the clinical presentation. The AAP encourages shared decision-making with families and clear communication about the purpose, benefits, and limitations of genetic testing.
The questions below ask about awareness and understanding of these updated recommendations.
