Medscape: Docs Urged to Use Genome Tests to Diagnose Kids Early
By Lara Salahi
Clinicians should prioritize genetic testing for young children who show signs of intellectual disability (ID) or developmental delays, according to a new report from the American Academy of Pediatrics (AAP), a move intended to improve care and outcomes for families.
The clinical report, published in Pediatrics, recommends genome or exome sequencing be used as first-line diagnostic tests in most cases. Chromosome microarray analysis, which looks for genetic differences at a larger scale, is also endorsed as a complementary approach. Together, these tools can identify a wide range of genetic conditions, many of which would otherwise go undiagnosed or be discovered only after years of inconclusive, nongenetic testing.
Pediatricians as Frontline Navigators
Neurodevelopmental disorders — including global developmental delay and ID — affect about 1 in 6 children in the US. But diagnosing these conditions often takes years. The new report aims to speed up that process and ensure clinicians consider comprehensive testing earlier.
Genomic testing can influence medical decisions in a significant number of cases, said Tomi Pastinen, MD, PhD, director of the Center for Pediatric Genomic Medicine at Children’s Mercy Kansas City in Kansas City, Missouri, who was not involved with the report.
“That could be family planning guidance or actual medical management of the child,” Pastinen said.
The new guidance equips pediatricians, often the first point of contact for concerned parents, with a clearer framework for initiating testing, he said.
The AAP identified two paths to diagnosis. First, a phenotype-driven route for children with specific physical or behavioral signs of a known condition. The other is considered “hypothesis-free,” or an agnostic process to use when symptoms are less specific.
Read the full article via Medscape
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