A national study, led by researchers at Tufts Medical Center, 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 Genomic Medicine in Ill Infants and Newborns (GEMINI) study did, however, find that time to results was longer when carrying out WGS, when compared with a commercially available targeted neonatal gene-sequencing test.
“More than half of the babies in our study had a genetic disorder that would have remained undetected at most hospitals across the country if not for genome sequencing technologies,” said Jonathan Davis, MD, chief of newborn medicine at Tufts Medical Center and co-principal investigator of the study. “Successfully diagnosing an infant’s genetic disorder as early as possible helps ensure they receive the best medical care. This study shows that WGS, while still imperfect, remains the gold standard for accurate diagnosis of 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,” is reported in The Journal of the American Medical Association (J AMA).
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