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August 23, 2021

The Effect of BabySeq on Pediatric and Genomic Research—More Than Baby Steps

Author Affiliations
  • 1Center for Translational Research, Children’s National Research Institute, Children’s National Hospital, Washington, DC
  • 2Department of Pediatrics, School of Medicine and Health Sciences, The George Washington University, Washington, DC
JAMA Pediatr. Published online August 23, 2021. doi:10.1001/jamapediatrics.2021.2826

In this issue of JAMA Pediatrics, Pereira et al1 report on a sizable group of healthy newborns screened with whole-exome sequencing (WES) shortly after birth whose world—and the world of their parents—did not end in psychological and emotional Armageddon (so far). Does this mean that we are ready to offer WES to each of the 4 million infants born annually in the US? No. Does it mean that we have made a critical first step in understanding the potential benefits and harms of screening newborns with WES? Absolutely.

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