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Medicine's future?

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Science  27 Oct 2017:
Vol. 358, Issue 6362, pp. 436-440
DOI: 10.1126/science.358.6362.436

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Summary

Over the past 2 years as part of the world's largest clinical genome sequencing effort, the first available to average Americans as part of standard primary medical care, more than 400 Pennsylvanians have received calls, letters, or electronic messages informing them that they have a disease-linked mutation. Run by the Danville, Pennsylvania–based Geisinger Health System, the effort hopes to ultimately enlist half a million of the nonprofit's 3.3 million patients. In addition to using the sequencing results to prevent and treat diseases, Geisinger hopes to answer myriad questions, from how primary care physicians with little genetics knowledge cope with advising patients informed of disease mutations, to the challenges of "cascade testing"—the follow-up with relatives who could also be at risk. The project will inform ongoing debates, including how much people should be told about what their genomes reveal.

  • * Bijal P. Trivedi is a science journalist in Washington, D.C., writing a book on cystic fibrosis and the quest for cures.