Baby DNA Analysis Ushers in Brave New World of Treatment: Health

Posted: January 16, 2014 at 6:44 pm

Jan. 16 (Bloomberg) -- Hundreds of babies across the U.S. are now having massive portions of their DNA deciphered, ushering in a new world of diagnostic power and accuracy. Diagnosis of mysterious diseases, which used to take years, can now be done in a day or two. Health experts are asking who should undergo the procedure, who will pay, and how much of the information should be shared with families. Bloomberg's John Lauerman reports. (Source: Bloomberg)

When Kira Walker was three weeks old, her pediatrician noticed a problem. She was frequently hungry and had dangerously low blood sugar for no obvious reason.

Kira was born in Kansas City, Missouri, where her doctors had access to a service few hospitals can match. Her DNA was sent to Childrens Mercy Hospital geneticist Stephen Kingsmore, who is able to determine a diagnosis in a day or two for half the babies with mysterious diseases referred to him. Until recently, these riddles took years to solve, or were never unraveled at all.

Hundreds of babies across the U.S. are having massive portions of their DNA deciphered as part of a five-year, U.S.- funded project to understand and navigate the brave new world of infant genetic testing. Kingsmore and a handful of other scientists are taking gene sequencing to the next level, using the technology to design treatment for infants with rare and unusual illnesses, and in some cases, finding therapies for genetic abnormalities never seen before.

Related: Human Gene Mapping Price to Drop to $1,000, Illumina Says

The big picture is that medicine will be transformed when the genome is part of our medical record, he said in an interview in his laboratory. The art of medicine will move closer to becoming a science.

Photograph: Gallery Stock

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Baby DNA Analysis Ushers in Brave New World of Treatment: Health

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