Genome Sequencing Highly Effective at Diagnosing Genetic Disorders in Newborns and Infants

25th July, 2023

28, July 2023, News, Newsletter

[Source: Science Daily]

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 online on The Journal of the American Medical Association (JAMA) website on July 11, 2023.

Funded by the National Institutes of Health, the first-of-its-kind GEMINI Study enrolled 400 newborns and infants

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