Large-scale sequencing initiatives performed in integrated health care systems, such as the DiscovEHR collaboration, can advance genetic discovery and serve as a "blueprint" for adoption of precision medicine, according to a study published Dec. 23, 2016 in Science. The DiscovEHR study is a collaboration between the Regeneron Genetics Center (wholly-owned subsidiary of Regeneron Pharmaceuticals) and Geisinger Health System (Danville, Penn.). The initiative couples high-throughput sequencing and longitudinal electronic health records (EHRs) in a real-life clinical cohort that enables returning and acting on reportable variants. Sequencing of the exomes of 50,726 adult participants in the DiscovEHR study (sequence coverage of at least 20× haploid read depth at more than 85 percent of targeted bases in 96 percent of samples) identified roughly 4.2 million rare, single-nucleotide variants and insertion/deletion events, of which approximately 176,000 predicted a loss of gene function. Each individual had a median of 21 rare variants predicted to result in a loss of gene function. "Although many of these variants are rare individually, in aggregate, they are not uncommon, and their identification and the biological insights gleaned are relevant to our understanding and treatment of both common and rare diseases." —David Carey, Ph.D. The researchers found that linking these […]