FLICKR, LEW HOLZMANIn a unique twist on human genomics studies that seek to identify genetic variants linked to human disease, researchers have combined whole-exome sequencing of 50,726 adults with the individuals’ long-term electronic health record (EHR) data. The effort, by researchers at the Geisinger Health System in Pennsylvania and Regeneron Genetics Center, a subsidiary of New York-based Regeneron Pharmaceuticals, has yielded novel disease-linked variants, including loss-of-function alleles. The team behind the project, called DiscovEHR, has also found that about one in 30 of the individuals harbors a deleterious genetic variant for which a screen or treatment already exists. The group’s analysis is described in two papers published today (December 22) in Science.
“This is new territory and I applaud [the authors] for their efforts. No one has taken this many individuals’ genomic sequences from one health system and tried to extract useful information,” Eric Topol, the director of the Scripps Translational Science Institute who was not involved with the study, told The Scientist.
“This is the first study that has taken exome sequencing data on individuals and linked that to their EHR phenotype data at a large scale,” said Daniel Rader, chair of the department of genetics at the University of Pennsylvania Perelman School of Medicine, who was also not involved in the work and who penned an accompanying editorial.
Geisinger’s David Carey and colleagues collected blood and DNA samples from the individuals, all patients within the ...
