The National Institutes of Health (NIH) announced a $25 million project yesterday (September 4) aimed at ensuring researchers, clinicians, and families are ready for a future in which genome sequencing is more affordable and available from birth. Research teams at four sites will embark on five-year studies to explore exactly how babies’ genome sequences might be used in their health care—as well as the ethical and legal ramifications of such knowledge.

There are already several standard tests to screen for genetic disorders in newborns. Rather than replace these, genome sequencing could provide additional information for preventative medical care.

Alan Guttmacher, director of the National Institute of Child Health and Human Development, told reporters that sequencing could “become part of the electric health record that could be used throughout the rest of the child’s life both to think about better prevention but also to be more alert to...

But the data come with concerns. More screening could mean more false positives, which, as Nature mentioned, “can have profound effects on families even if a child never becomes sick.”

Often it’s doctors who decide how much genomic information parents should know. One of the NIH-backed projects, centered at Brigham and Women’s Hospital in Boston, will explore this question by sequencing hundreds of infants’ genomes and tracking how the resulting knowledge impacts the children and their parents over time. 

At Children’s Mercy Hospital in Kansas City, Mo., another team will investigate the benefits genome sequencing might offer to newborns in neonatal intensive care units, where quick diagnoses can be critical. Finally, researchers at the University of North Carolina at Chapel Hill and University of California, San Francisco, will look into the possibility of using partial genome sequencing to enhance existing newborn screening tests.

“I think we’re five to 10 years away from the time when it will be very easy and very inexpensive for any parent who wants genomic sequencing of their newborn to obtain it,” Robert Green of Brigham and Women’s Hospital told WBUR. “And it may be even sooner than that.”

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