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by Brooks Hays Boston, Maine (UPI) Dec 30, 2014
For some time, researchers have been predicting that the future of medicine will involve the integration of genetic sequencing -- healthcare personalized according to DNA, from cradle to grave. That future has arrived, as a number of hospitals are set to begin sequencing the genomes of healthy newborn babies as part of a new research effort called the the BabySeq Project. As part of several studies funded by a gene-sequencing grant issued by the National Institutes of Health, Brigham and Women's Hospital and Boston Children's Hospital will begin offering gene sequencing in 2015. The sequencing services will be available to both healthy and ill newborns. Similar efforts -- funded by the same NIH grant -- are set to get underway at the University of North Carolina at Chapel Hill and University of California, San Francisco. Though scientists have been researching the human genome for several decades, it's still not entirely clear how useful sequencing will be on a case-by-case basis. Much of the genome remains little understood, and doctors may not always be clear on the risks genetic anomalies entail. As sequencing becomes more affordable and better understood, it's becoming clearer that any problems with the technique are simply kinks to be ironed out -- not reason to avoid its inevitable adoption by practitioners of modern medicine. New research suggests genetic sequencing may be particularly valuable for solving mysterious illnesses in sick infants. A recent study by researchers at Children's Mercy Hospital found that 45 percent of families whose newborns showed symptoms of a unidentified neurological or developmental disorders received a diagnosis via genomic testing. For critically ill newborns, the diagnostic rate was 73 percent. "I was surprised by how many cases we found where a specific intervention can make a difference," Sarah Soden, a researcher at the Center for Pediatric Genomic Medicine at Children's Mercy, told TIME. "For me it's compelling enough to push the envelope and get younger kids diagnosed." The uptick in genome research is happening in England, as well. Thanks to a hefty grant from the United Kingdom's National Health Service, 11 hospitals are set to begin genome sequencing of newborns as a way to better understand cancers and rare illnesses. While the decision to have a child's genome tested won't be easy for many parents, the more genome sequencing that occurs, the greater the chance scientists will be able to improve their understanding of genetic sequencing and what it means for human health. "I think this testing is definitely something that everybody should consider," said Holly Burkhart, the mother of a young girl whose rare brain condition was diagnosed with the help of genomic testing. "Without it, we probably never would have figured out what was wrong with Mya." The testing helped us find answers, and tell us where we need to go from here," Burkhart said.
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