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Jay Shendure

Visiting University of Washington

Posted on by Dr. Francis Collins

I had a fabulous time in Seattle visiting the University of Washington and learning more about some very innovative research that combines precision medicine, genomics, and data science. Joining me on the visit was Senator Patty Murray of Washington. In this photo are (from left to right) Paul Ramsey, dean of the University of Washington School of Medicine; Heather Mefford, deputy scientific director of the Brotman Baty Institute for Precision Medicine, Seattle; Senator Murray; and Jay Shendure, scientific director of the Brotman Baty Institute. The visit took place on March 20., 2019. Credit: NIH

Creative Minds: Interpreting Your Genome

Posted on by Dr. Francis Collins

Artist's rendering of a doctor with a patient and a strand of DNA

Credit: Jane Ades, National Human Genome Research Institute, NIH

Just this year, we’ve reached the point where we can sequence an entire human genome for less than $1,000. That’s great news—and rather astounding, since the first human genome sequence (finished in 2003) cost an estimated $400,000,000!  Does that mean we’ll be able to use each person’s unique genetic blueprint to guide his or her health care from cradle to grave?  Maybe eventually, but it’s not quite as simple as it sounds.

Before we can use your genome to develop more personalized strategies for detecting, treating, and preventing disease, we need to be able to interpret the many variations that make your genome distinct from everybody else’s. While most of these variations are neither bad nor good, some raise the risk of particular diseases, and others serve to lower the risk. How do we figure out which is which?

Jay Shendure, an associate professor at the University of Washington in Seattle, has an audacious plan to figure this out, which is why he is among the 2013 recipients of the NIH Director’s Pioneer Award.