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Puzzle-solver, Potentially

To solve the puzzle of what is wrong with some very ill newborns, clinicians are beginning to turn to genome sequencing. A team at Children's Mercy Hospital in Kansas City recently used sequencing information to figure out what was going on with a baby girl who wasn't eating or growing, reports Susan Young at Technology Review.

Children's Mercy recently received a grant from the US National Institutes of Health, along with three other groups, to study the use of genome sequencing of newborns in a neonatal intensive care unit. The researcher-clinicians there, led by Stephen Kingsmore, say they aim to reduce the turnaround time of sequencing to about 50 hours, which would be more in line with other newborn screens, Clinical Sequencing News said at the time.

Earlier this year, Young notes, the Children's Mercy team reported that it developed a system to sequence and analyze a genome in two days. "The rapid diagnosis could also have lifelong benefits for newborns," Young says.

In the case of the newborn girl who was not eating or growing, the researchers found that she had a disorder affecting her mitochondria that could be treated with nutritional support and vitamins, Young reports. They also were subsequently able to feed the baby using a thickened liquid — at first she had to be fed through a tube, as her muscles were weak — so that she learned how to eat.

"Kids who aren't allowed to eat in the first months of life are really hard to later teach to eat," Sarah Soden from Children's Mercy adds.