• New DNA Test Can Spot Gene Diseases In Babies


    October 04, 2012

    Scientists have discovered a way to decode DNA in babies in just days instead of weeks, preventing unknown genetic diseases that could cause death.

    The idea is to combine faster gene-analyzing machinery with new computer software that uses a baby’s symptoms to narrow down suspicious mutations with just a push of a few buttons. The hope is to start treatment earlier or avoid futile care for lethal illnesses.

    Researchers at Children’s Mercy Hospital in Missouri mapped the DNA of five children, but the study wasn’t completed in time to help most of them. However, the hospital finds the results promising enough that by the year’s end, it will begin routine gene-mapping in its neonatal intensive care unit. In addition, the hospital may offer testing elsewhere while further studies continue.

    “For the first time, we can actually deliver genome information in time to make a difference,” predicted Kingsmore. Even if the diagnosis is lethal, “the family will at least have an answer. They won’t have false hope.”

    More than 20 percent of infant deaths are due to birth defects or genetic diseases. While there are thousands of diseases, which can be caused by a single gene, standard newborn screening tests detect only a few.

    Researchers on Wednesday reported that the new process can take just 50 hours, which is half the time to perform decoding from a drop of the baby’s blood. The study counts only the time the blood was being decoded or analyzed, not the days required to ship the blood to England where a speedy DNA decoding machine is available, or ship the results back to Children’s Mercy’s computer program to analyze. According to Kingsmore, the hospital is currently waiting to receive its own decoder.

    “Genomic sequencing like this is very practical and very real now,” said Dr. Arthur Beaudet of the Baylor College of Medicine in Texas. “Fast forward a year, and I think this kind of thing will probably be pretty routine.”

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