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Tue, Jun 24

Step toward gene screening in the doctor’s office also reality check

Whole-genome sequencing has just moved a little bit closer to the average doctor’s office. The New England Journal of Medicine, probably the world’s most influential medical journal, has published a paper—a primer, really—that instructs clinicians in the basics of what authors Leslie Biesecker and Robert Green are calling Clinical Genome and Exome Sequencing.

CGES can involve an entire genome or the much smaller exome, the 1-2 percent of human genes that code for proteins. Biesecker, who is at the National Human Genome Research Institute, says thousands of patients have already undergone CGES, and he estimates that 10,000 more will this year. Green, who is at Brigham and Women’s Hospital and Harvard Medical School, calls it “a transformative moment in the history of medicine.”

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