Genomic testing has transitioned from being a specialized procedure to a standard practice in pediatric care. The American Academy of Pediatrics now recommends exome and genome sequencing for a broader range of children, especially those experiencing developmental delays. Research indicates that over one-third of these children have genetic conditions detectable through testing. This evolution is allowing pediatricians to offer early insights and actionable plans. Faster, more affordable, and accessible genomic testing is fundamental in diagnosing rare diseases and understanding common conditions like autism, thereby enhancing the care and treatment of children.
Genomic testing, once reserved for rare or complex cases and ordered by specialists, is rapidly becoming a standard tool in pediatric care.
The latest guidance from the American Academy of Pediatrics recommends using exome and genome sequencing as a first-tier test for more children, particularly those with developmental delays.
More than one in three children with developmental delays, intellectual disabilities, or autism have an underlying genetic condition that can be found using genetic testing.
Genomic testing has become faster, more affordable, and more accessible, meaning it should be integrated into every family's pediatric office.
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