Baylor Genetics Applauds New Guidance from American Academy of Pediatrics for Genome and Exome Sequencing to be used as First-Tier Tests for Children with Certain Developmental Delays
Guidance also outlines metabolic evaluation – like Baylor Genetics’ unique Global MAPS® untargeted metabolite screen – as second-tier test
Houston, June 26, 2025 – Baylor Genetics, a leading clinical diagnostic laboratory at the forefront of genetic testing, today announced its support for the American Academy of Pediatrics’ (AAP) updated guidance recommending whole genome and whole exome sequencing as first-tier tests. Baylor Genetics has long recognized the value of these tests, and offers a comprehensive, structured framework to help pediatricians promptly identify potential genetic causes in children presenting with global developmental delay (GDD) or intellectual disability (ID). This milestone empowers pediatricians, supported by genetics professionals, with access to earlier and more comprehensive insights that guide clinical decisions for patients and their families, marking a critical step toward faster diagnoses and improved outcomes.
The American Academy of Pediatrics’ updated guidance also outlines Tier 2 usage of metabolic evaluation in children with GDD/ID. In alignment, Baylor Genetics offers standard metabolic testing such as plasma amino acid analysis and urine organic acid analysis, but importantly, also offers Global MAPS®, a multiplex, pathway-focused approach that provides a holistic view of the metabolome and supports variant interpretation when used alongside whole exome or whole genome sequencing. By helping healthcare providers uncover new disorders and enhancing diagnostic clarity, especially in deteriorating pediatric patients, Global MAPS® adds a powerful layer of insight to complex cases.
“The AAP’s updated recommendations validate what we have long believed: timely access to genetic insights can help improve outcomes and change the trajectory of a child’s life,” said Christine Eng, M.D., Chief Medical Officer and Chief Quality Officer at Baylor Genetics. “As a pediatrician on the frontlines to help improve patient care, I am excited to see the new guidance that empowers healthcare providers to act sooner and offers families the answers they’ve been waiting for. Baylor Genetics is uniquely positioned to help with our powerful, metabolomic screening capabilities, adding an additional layer of insight to help clarify uncertain variants in complex cases.”
As AAP’s updated guidance ushers in a new standard for pediatric genetic evaluation, Baylor Genetics supports patients and pediatricians by offering a powerful combination of comprehensive genomic testing and metabolomic screening. By equipping pediatricians and healthcare providers with the tools needed to shorten the diagnostic odyssey, we can help clarify uncertain findings and deliver earlier, more personalized care.
