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The cost of sequencing the human genome and of measuring large numbers of metabolites in a single blood sample (known as metabolomics) has plummeted. Members of a multicenter project organized by the National Institutes of Health — the Undiagnosed Diseases Network (UDN) — sought to assess the value of these technologies in 600 individuals in whom past attempts at establishing disease diagnoses had failed. The most frequent symptoms were neurological (in 40%) and musculoskeletal (in 10%).
In many individuals, their entire genomes were sequenced. In others, just the protein-coding regions (exons) were sequenced. The nature of individual work-ups, including use of genomic and metabolomic studies, was customized by the participating doctors. Of …