STAT February 9, 2023
Researchers who believe genomics can transform human health love to recount success stories. They’ll tell you about the 3-month-old boy whose heart was failing until researchers pinpointed what was ailing him. Or the baby girl who could have had a life-threatening reaction to anesthesia had researchers not sequenced her DNA ahead of time.
But a new study focuses on a much more somber set of stories: those of infants who died with genetic diseases and who in some cases could have been treated, perhaps even saved.
When researchers at Rady Children’s Institute for Genomic Medicine in San Diego examined the DNA sequencing data of 112 infants who had died, they found genetic diseases in 40% of these cases. For 30%...
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