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The majority of babies born in the US undergo a hearing screening as well as a blood test to detect certain diseases that can be fatal if they go untreated, such as cystic fibrosis and phenylketonuria. Other diseases that don’t have an appropriate biochemical test can go unidentified. Sequencing the genomes of newborns would be one way to determine a child’s risk of developing one of these untested-for diseases, so researchers decided to try it out.
In a study published today (January 3) in The American Journal of Human Genetics, a team of researchers describes its findings from the exome sequences of 127 healthy newborns and 32 ill newborns. The group found that 15 of the babies had genomic variants that put them at risk for a childhood-onset disease and 140 of them were carriers for one of those diseases—risks that could not have been detected ...
