DNA analysis ushers in brave new world of treatment

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 United States are having massive portions of their DNA deciphered as part of a five-year, US- 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. 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. About 5 percent of all babies born in the US, some 200,000 a year, probably suffer from a rare disorder, said Michael Watson, executive director of the American College of Medical Genetics and Genomics in Bethesda, Maryland Infant genetic testing may succeed in shedding light on conditions such as progeria, the disease of premature aging that killed Sam Berns, a 17-year-old from Foxborough, Mass., who was the subject of a recent HBO documentary. Testing some babies might lead to more knowledge about the disease and perhaps enable early experimental treatment, Watson said. Sequencing gives a readout of the genome, the instructions each of the bodys cells carries for making and maintaining tissues. Genomes change from one generation to the next and certain alterations can result in diseases, some of them both rare and serious. Thats why sequencing the genes of infants holds so much promise. Still, many parents and doctors remain wary as health experts grapple with a myriad of issues: who will pay, how much of the information should be shared with families, and whether the procedure should only be used in sick babies. About a quarter of the parents with sick children who are eligible for free genome sequencing through his program decline it, Kingsmore said. For those who go ahead, the benefits can be dramatic and swift. Kingsmores program at Childrens Mercy is among the most technologically advanced in the world. Using powerful sequencers from Illumina Inc., the biggest maker of DNA-decoders, he can sequence a childs entire genome in 24 hours for about $12,000, which includes interpreting the data. Just over a decade ago, the same process took 10 years and cost more than $2 billion. Once the results are ready it often takes no more than 10 minutes to find the mutation linked to the disease.

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DNA analysis ushers in brave new world of treatment