An estimated 2 million people in the US live with mysterious ailments that elude explanation. In 2008, when the US National Institutes of Health (NIH) launched its Undiagnosed Diseases Program (UDP), these individuals had few other places to turn to. But over the last few years, thanks in part to the declining cost of genetic sequencing, such patients have seen a growing number of clinical centers across the country offering to give them an answer about what ails them.
The Medical College of Wisconsin in Milwaukee, for example, began routinely offering whole-genome sequencing for people with undiagnosed diseases in 2010, the same year that the Duke University School of Medicine in Durham, North Carolina, started a similar service to obtain exomes, the protein-coding regions of DNA. Others soon joined the fray, including the three extramural hubs of the NIH-funded Centers for Mendelian Genomics (based at the University of Washington, at Yale University and at a joint center at the Baylor College of Medicine and Johns Hopkins University), each of which has since sequenced hundreds of exomes for the diagnosis of elusive single-gene disorders.
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