PerspectiveGENOMIC MEDICINE

“Pheno”menal value for human health

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Science  23 Dec 2016:
Vol. 354, Issue 6319, pp. 1534-1536
DOI: 10.1126/science.aal4573

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Summary

One of the greatest challenges of the biomedical enterprise is to link human genetic variation with phenotypic traits at a population scale. Such efforts have 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, thus enabling the promise of precision medicine to improve human health. On page 1549 of this issue (1), Dewey et al. report findings from their effort to couple whole-exome sequencing (WES) with longitudinal electronic health record (EHR) phenotype data in more than 50,000 individuals (DiscovEHR). They identified hundreds of individuals with rare “putative loss-offunction” (pLoF) gene variants linked to novel phenotypes. On page 1550 of this issue, Abul-Husn et al. (2) report on a companion study that identified many participants with familial hypercholesterolemia who 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.