GeneDx announced on June 23, 2025, that the American Academy of Pediatrics (AAP) has issued updated guidance recommending exome and genome sequencing as first-tier tests for children with global developmental delay (GDD) or intellectual disability (ID) in most circumstances. This marks a significant milestone in pediatric healthcare, empowering over 60,000 pediatricians to play a more active role in initiating genetic testing.
The new recommendation is based on the superior diagnostic yield and higher cost-effectiveness of exome and genome testing when pursued earlier in the diagnostic process. This shift is expected to fundamentally change the diagnostic approach, moving away from older, less comprehensive methods like Chromosomal Microarray Analysis (CMA) and FMR1.
GeneDx, with its unparalleled expertise from sequencing over 800,000 exomes and genomes, is uniquely positioned to support pediatricians through this transition. The company's standard exome and genome results are available in as little as three weeks, and insurance coverage for this testing continues to expand, facilitating broader adoption and aiming to shorten the average five-year diagnostic odyssey.
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