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Neonatal Genetic Testing

October 8, 2012

A new technique makes it possible to scan a sick newborn’s entire genetic code in 50 hours.



Whole-genome newborn testing.  I’m Bob Hirshon and this is Science Update.

When a baby is born sick, one of over 3,500 genetic disorders may be to blame.  And figuring out which one can be a needle-in-a-haystack problem.  Now, researchers have developed a test that scans a baby’s entire genetic code in about fifty hours.

STEPHEN KINGSMORE (Children’s Mercy Hospitals and Clinics):

That goes from taking a drop of blood from the baby, receiving an order from a physician to reporting the results back to that physician.

That’s geneticist Stephen Kingsmore of Children’s Mercy Hospitals and Clinics in Kansas City. His team’s software matches a baby’s symptoms to possible genetic causes, and relates those findings to an across-the-board search for abnormal genes.  Kingsmore’s group says they correctly diagnosed six out of seven sick babies.  And while the test is expensive, it could pay for itself several times over by shortening intensive care stays.  I’m Bob Hirshon for AAAS, the Science Society.

A neonatal intensive care unit. (Bob J. Galindo/Wikimedia Commons)