Genome sequencing nearly twice as effective as targeted test at diagnosing genetic disorders in infants

Medical Xpress July 13, 2023
By Tufts University

A new national study, led by researchers at Tufts Medical Center in Boston, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible for genetic disorders in newborns and infants. The study, “A Comparative Analysis of Rapid Whole Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants with a Suspected Genetic Disorder: The Genomic Medicine for Ill Neonates and Infants (GEMINI) Study,” was first published in The Journal of the American Medical Association (JAMA) on July 11, 2023.

This first-of-its-kind GEMINI Study enrolled 400 newborns and infants under the age of one year, with a wide variety of suspected, undiagnosed genetic disorders, at six centers across the...

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