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Stanford researchers work to translate genetic discoveries into widespread personalized medicine

ACTG_080213While family medical history can provide important information about your risk of specific health concerns, there are cases where this method of prevention can be incomplete. Stanford geneticist Michael Snyder, PhD, experienced this firsthand when colleagues in his lab sequenced his genome, spent a year analyzing the data, and discovered that Snyder had a genetic predisposition to Type-2 diabetes. Snyder, who didn't know of any diabetes history in his family, says he didn't expect the finding.

The cover story of the current issue of Palo Alto Weekly offers a closer look at how Snyder came to be diagnosed with diabetes and how ongoing research at the Stanford Center for Genomics and Personalized Medicine could help in translating genetic discoveries made in the lab into widespread personalized medicine. As Stephen Galli, MD, chair of the Department of Pathology at Stanford, said in the piece, "I've never seen a more exciting time in medicine than now." More from the article:

Stanford's genomics program, which includes an off-campus sequencing facility in Palo Alto with machines from the Hayward-based Illumina Inc., is one of a few in the country to receive funding from the National Human Genome Research Institute at the National Institutes of Health. Other institutions that have gotten grants from the institute include the California Institute of Technology, Harvard Medical School and Yale University.

Snyder describes much of the genomics work done at Stanford today as clinical research rather than clinical. Lab researchers studying the genome are exploring a variety of questions. Which genes are linked to heart disease? What can genes reveal about predispositions to cancer or whether a tumor will grow? How is genetic material related to autoimmune responses, autism, asthma? Stanford has also launched a repository for genetic samples to create a database that could aid in future study.

In some cases, sequencing is also used in individual patients' care at the university's hospital system. For example, a patient with an unusual syndrome that baffles doctors might have his genome sequenced in hopes of finding out what the condition is and what existing drugs might work for it.

"For a long time, we've known how to use individual genes," Galli said. For instance, if a person has cystic fibrosis, doctors would know to test his or her child for it, or to tell a patient about potential risks to his or her unborn child. Today's use of genes is broader, Galli said: "We're able to tell you that you have a specific mutation and that this particular medicine might work well for you."

Previously: Stanford geneticist talks tracking biological data points and personalized medicine, NPR explores the pros and cons of scientists sequencing their own genes, Ask Stanford Med: Genetics chair answers your questions on genomics and personalized medicine, How genome testing can help guide preventative medicine and ‘Omics’ profiling coming soon to a doctor’s office near you?
Photo by Nathan Nelson

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