How well do you know the latest genetic testing guidelines?

Understanding the updated AAP Clinical Report on the Genetic Evaluation of Children With Intellectual Disability or Global Developmental Delay is essential for pediatricians, as early and accurate diagnosis directly shapes prognosis, surveillance, family counseling, and management.

The following multiple-choice questions are designed to help clinicians assess their familiarity with key recommendations from the guidelines, including phenotype-driven evaluation, the tiered agnostic testing approach, the role of exome and genome sequencing, and recognition of red flags for metabolic and imprinting disorders. These questions aim to reinforce practical decision-making and strengthen confidence in applying the guidelines to everyday pediatric practice.

References

1. Rodan LH, Stoler J, Chen E, et al. Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report. Pediatrics. Published online June 23, 2025. doi:https://doi.org/10.1542/peds.2025-072219
2. Stoler JM, Rodan LH. Clinical report outlines how, why to pursue genetic diagnosis for GDD/ID. AAP News. June 23, 2025. Accessed November 11, 2025. https://publications.aap.org/aapnews/news/32394/Clinical-report-outlines-how-why-to-pursue-genetic?autologincheck=redirected