 has updated its clinical guidance to recommend exome and genome sequencing as first-line diagnostic tools for children with global developmental delay or intellectual disability.){kind=link}
The American Academy of Pediatrics (AAP) has updated its clinical guidance to recommend exome and genome sequencing as first-line diagnostic tools for children with global developmental delay or intellectual disability. The change reflects a growing consensus among experts that broader genomic testing offers better diagnostic yield and cost-effectiveness compared to traditional methods, particularly when conducted early in a child’s diagnostic journey.
This marks a shift from the AAP’s previous recommendations, issued in 2014, which favored more targeted genetic tests such as Chromosomal Microarray Analysis and testing for the FMR1 gene. Advances in genomic technology over the past decade have made exome and genome sequencing more accessible, with faster turnaround times and increasing insurance coverage.
The updated guidance has implications for over 60,000 pediatricians across the U.S., who are often the first point of contact for children showing signs of developmental disorders. By integrating comprehensive genetic testing into the initial stages of evaluation, clinicians can identify underlying causes sooner and guide families toward more tailored interventions.
Genomic testing company GeneDx, which has sequenced more than 800,000 exomes and genomes, welcomed the news. In a statement, CEO Katherine Stueland called the AAP’s decision an important milestone in the broader adoption of genomics in pediatric care. She emphasized that such testing is no longer a last resort but should be viewed as a frontline diagnostic tool.
The company has also launched a public awareness campaign, Diagnosis is Power, aimed at educating both clinicians and families about the benefits of early genetic testing.
Dr. Deborah Ondrasik, a general pediatrician with Southcoast Health, echoed support for the new recommendations. “This updated report will empower pediatricians to offer families the most current, evidence-based genetic testing, helping to shorten the often long and difficult diagnostic journey,” she said.
Exome and genome sequencing analyze a child’s entire set of genes or protein-coding regions, respectively, providing clinicians with a broader view of potential genetic causes of developmental delays. With sequencing results now available in as little as three weeks, proponents argue that incorporating these tests early could significantly reduce the typical multi-year process many families endure to obtain a diagnosis.