Jun. 24 at 11:51 AM
$WGS GeneDx says AAP recommends exome, genome sequencing as tests for children
GeneDx announced Monday that the American Academy of Pediatrics issued updated guidance to now recommend exome and genome sequencing as first-tier tests for children with global developmental delay or intellectual disability in most circumstances because of superior diagnostic yield and higher cost-effectiveness if pursued earlier in the diagnostic process2. For more than 60,000 pediatricians, this milestone marks a turning point in pediatric healthcare, ushering in earlier diagnosis, interventions, and improved outcomes for millions of children.
"The AAP's updated guidance is a long-overdue validation of what many of us have known - earlier access to genomic testing leads to faster, more accurate diagnoses and better outcomes - and represents an important milestone in bringing genomics to the front line of pediatric medicine as we seek to protect children from unnecessary disease progression," said Katherine Stueland, President and CEO of GeneDx.
"Exome and genome testing are no longer tests of last resort; they are now the first step, and there is no one better equipped than GeneDx to support pediatricians through this next chapter. We're ready to slash the average five-year diagnostic odyssey to a fraction of that time, drive down healthcare costs, and, most importantly, change children's lives sooner.
Having driven innovation and advanced patient care through genomic testing, working in partnership with geneticists and pediatric specialists, GeneDx is best positioned to empower general pediatricians to take a leading role in early diagnosis and precision medicine."
