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Newborn Genomics on the Way

The newborn sequencing studies funded by the US National Institutes of Health are expected to begin churning out data in the coming year, writes Amy Dockser Marcus at the Wall Street Journal.

While early-in-life sequencing might be able to pick up potentially harmful mutations associated with disease and help personalize treatments, Dockser Marcus notes that interpretation and parental willingness to be tested may be sticking points.

Right now, Stephen Kingsmore from Children's Mercy Hospital tells the Journal that sequencing an ill baby can help pinpoint the cause of disease, while the benefits of sequencing a healthy infant isn't clear.

Kingsmore and his team recently published a paper in Science Translational Medicine that, as GenomeWeb reported, showed that genome sequencing of children with neurodevelopmental disorders could be cost-effective and have clinical utility.

At the same time, parents may have differing views of sequencing infants. A study by Brigham and Women's Hospital's Robert Green recently reported in Genetics in Medicine that about 83 percent of parents were interested in newborn genomic testing — 28 percent were "very" interested and 18 percent were "extremely" interested, according to GenomeWeb.

One interested parent tells Dockser Marcus that he had concerns about data misuse, though thought that more information was always better. Another, though, was concerned about revealing risks for diseases like Alzheimer's that crop up later in the child's life and for which there is no good treatment.

Universal newborn screening may take a while, adds Children's Mercy 's Joshua Petrikin, and not just because of the cost.

"[T]here will need to be population-wide education and acceptance, which I foresee will take longer than solving the technical problems," he tells the Journal.

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