The value of intersecting the sequencing of individuals’ exomes (all expressed genes) or full genomes to find rare genetic variants -- on a large scale -- with their detailed electronic health record (EHR) information has “myriad benefits, including the illumination of basic human biology, the early identification of preventable and treatable illnesses, and the identification and validation of new therapeutic targets,” wrote Daniel J. Rader, MD, chair of the Department of Genetics, in the Perelman School of Medicine at the University of Pennsylvania, in Science this week, with Scott M. Damrauer, MD, an assistant professor of Surgery at Penn and the Veterans Affairs Medical Center in Philadelphia.

Their commentary accompanies two linked studies on the topic in the same issue.  One reports on whole-exome sequencing of more than 50,000 individuals from the Geisinger Health System in Pennsylvania and the analyses of rare variants with data from longitudinal electronic health records.  They identified hundreds of people with rare “loss-of-function” gene variants that were linked to observable physiological characteristics, or phenotypes. The second article reports on a study that identified individuals in the same database with familial hypercholesterolemia, many of whom had not been diagnosed or treated.

“These results demonstrate the enormous potential of this approach for promoting scientific biomedical discovery and influencing the practice of clinical medicine,” the authors wrote.

Because sequencing ever-larger datasets of human exomes -- and full genomes -- has become faster, more accurate, and less expensive, researchers can find rare genetic variants more quickly. And then matching these rare genetic finds to EHR phenotype data has the potential to inform health care in important ways.

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