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News Link • Science, Medicine and Technology

Sick Babies Could Have Genomes Sequenced in Days

•, Karen Weintraub

In a study that shows how whole-genome sequencing could be used in life-or-death medical situations involving newborns, researchers at a hospital in Kansas analyzed the entire genomes of seven babies that died near birth, accurately diagnosing five of them with critical conditions within about 50 hours each—fast enough to be meaningful to their care.

Currently, gene testing in neonatal intensive care units can take a month or more, time in which the parents are anxiously awaiting results and doctors are trying to decide how aggressively to treat a child who may have no future.

Though this use of sequencing would benefit only a small group—newborns with hard-to-diagnose single-gene disorders—it is a proof of principle that whole-genome sequencing is viable for treating patients in real-time at a realistic cost, says Stephen Kingsmore, the paper's lead author and director of the Center for Pediatric Genomic Medicine at Mercy Hospital. The sequencing, conducted at Children's Mercy Hospitals and Clinics in Kansas City, Missouri, cost about $13,500 per genome.

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