Physician’s WeeklyAAP Issues Guidance on Genetic Evaluation of Neurodevelopmental Disorders

The American Academy of Pediatrics has issued comprehensive clinical guidance for genetic evaluation of developmental delay and intellectual disability in pediatric patients. This structured approach addresses the growing complexity of genetic testing options while providing practical implementation strategies for general pediatricians managing common neurodevelopmental presentations.

⚕️ Key Clinical Considerations ⚕️

• Phenotype-driven testing should be prioritized when clinical history, family history, and examination suggest specific genetic diagnoses.
• Tiered agnostic approach recommended when hypothesis-free testing is necessary, based on diagnostic yield and practical considerations.
• Early genetic diagnosis provides multiple clinical benefits including prognostication, surveillance planning, and accurate recurrence risk assessment.
• Broad genetic categories include chromosomal, monogenic, imprinting defects, and oligo/polygenic causes requiring different testing strategies.
• Integration with subspecialists remains important for complex cases requiring neurologist, developmental pediatrician, or clinical geneticist expertise.

🎯 Clinical Practice Impact 🎯

• Patient Communication: Genetic testing discussions should emphasize early diagnosis benefits including prognosis clarity, targeted surveillance, and family planning guidance while addressing complexity and potential inconclusive results.
• Practice Integration: Implement tiered testing protocols starting with genome/exome sequencing and chromosome microarray, followed by Fragile X and metabolic testing, then specialized third-tier evaluations for missed etiologies.
• Risk Management: Document comprehensive clinical phenotyping before testing selection, ensure appropriate genetic counseling resources, and establish clear referral pathways to subspecialists for complex presentations.
• Action Items: Develop practice protocols for systematic genetic evaluation, train staff on testing tier selection criteria, and establish partnerships with genetic counselors and subspecialised for comprehensive care coordination.

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