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Building Big Data, One Swab at a Time

Mar 14, 2013, 2:00 PM, Posted by Nancy Barrand

Watch PBS NewsHour's feature, "Researchers Aim to Unlock Genetic Data Goldmine for Vital Medical Information," on the Kaiser biobank to learn more about how Catherine Schaefer, Neil Risch and 200,000 Kaiser members are accelerating the pace of medical research and bringing the future potential of genomics into the here and now.

When the Robert Wood Johnson Foundation launched the Pioneer Portfolio, my colleagues and I asked ourselves what fields might produce the greatest potential game-changers for health and health care. Genomics was at the top of the list. The human genome had been mapped and fantastic discoveries had begun to blossom, but a true era of personalized medicine still seemed too far off.

So we set out to do what Pioneer does best. We explored and learned. We networked.  We asked a lot of questions.  And we began to hunt down ideas.

On March 12, PBS NewsHour did a feature story on one of the big ideas that came out of that process: the world’s largest, deepest, and most diverse “biobank.” It presented a good opportunity to share the backstory. 

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The Tip of the Iceberg for Science: Massive Biobank Starts Yielding Results

Oct 27, 2011, 9:35 AM

What do you get when you take 100,000 genotyped biological specimens and link them to longitudinal medical, environmental, behavioral and demographic data? You get Kaiser Permanente’s Research Program on Genes, Environment and Health (RPGEH), a Pioneer-supported effort that has developed the most robust and comprehensive research resource of its kind in the world.

At an unprecedented pace, researchers from the RPGEH biobank at Kaiser Permanente, in collaboration with colleagues at the University of California, San Francisco Institute for Human Genetics, have collected 170,000 samples and genotyped over 100,000 of them in just over a year. While currently the largest biobank in the United States, the ultimate goal is even more impressive: to collect data from a half million members of the Kaiser Permanente health plan linked to their electronic health records and population surveys – creating the largest, most comprehensive biobank on the planet.

Early research findings generated from the RPGEH data were presented this month at the joint annual meeting of the American Society of Human Genetics and the International Conference on Human Genetics in Montreal and are featured in the November issue of Nature Medicine. From an investigation of prostate cancer among African American men to a multi-ethnic study on bipolar disorder to a pharmacogenetic study of response to metformin, a drug used to treat type-2 diabetes, the RPGEH biobank is already starting to deliver.

But this is just the beginning - experts say that the possibilities for studying genetic and environmental influences over time thanks to this project are endless, with enormous potential for accelerating both the pace and breadth of medical research. The implications not only for the science community, but also for public health leaders and patients, are immeasurable. Stay tuned.