Research you can (bio)bank on: Kaiser Permanente and UCSF unveil 100,000 genotype project

**Not Kaiser Permanente's Biobank,
but I imagine there's is just as pretty**

In this slow economic recovery, banks may be on shaky ground. Biobanks, on the other hand, are booming. And none more so than Kaiser Permanente’s Northern Californian branch, ranked the nation’s largest repository of biological samples for research purposes. Propelled by a $25 million National Institutes of Health (NIH) grant, University of California San Francisco (UCSF) and Kaiser Permanente (KP) isolated DNA and sequenced genotypes from 100,000 saliva samples of current KP members; volunteers participating in the Research Program on Genes, Environment and Health (RPGEH). The project aims to facilitate the study of genetic and environmental root causes of health conditions like heart disease, cancer, diabetes, bipolar disorder, and asthma.

On June 5th, Research!America,  an advocacy alliance devoted to nationally prioritizing health research, hosted a briefing on RPGEH: “The Genetic Revolution, How It Will Help Patients, When And How Patients Can Help.” The lead investigators, UCSF’s Dr. Neil Risch and KP’s Dr. Cathy Schaefer, presented their milestone achievement of building one of the largest genetic data sets available for research. The event was held at the Kaiser Permanente Center for Total Health in Washington DC.

Highlights
Among the attendees were Dr. Eric Green, current director of the NIH’s Human Genome Research Institute, whose excitement was contagious as he praised the RPGEH on three counts. (1) This large colossal cohort, estimated to grow to 500,000 total samples, provides enough statistical power to study the subtle disease effects on multiple influencing genes and generalize those patterns across populations. (2) Researchers can link genetic data from participants’ saliva samples to their actual medical histories. KP keeps extensive electronic health records from clinical practice and population surveys. At the same time, geography-specific state environmental databases assessing factors like air pollution, water quality, and neighborhood characteristics give insight on how living situation affects health. (3) Advances in genome sequencing technology provide increasingly cost effective options that improve the accuracy of results and lessen the time it takes to produce them.

Implications
According to a 2011 report by Global Industry Analysts Inc., the global market for biobanks is estimated to grow to over $22.3 billion by 2017. Biobanks’ potential lies in the ability to study not only disease risk, but also drug response. Researchers may uncover genetic reasons why some people react to medications differently than others. This could pave the path for Pharmacogenetics. This method of personalized healthcare would let doctors prescribe patients with ideal medications that give the most benefit with the least side effects, based on patients’ genetic code.

In record time, researchers at UCSF also analyzed the telomere length from the 100,000 samples. Telomeres are caps of genetic sequence at the ends of DNA that protect the strand from damage (like the plastic binding on a shoelace protects it from unraveling). They serve as markers for aging. By studying them, we may learn the secrets of longevity.

Challenges
Engaging young research participants remains a challenge. It is relatively easy to rally older adults to the altruistic call of donating their time and samples for the advancement of epidemiology research. It’s a harder sell to get the 22 year old college kid to put down the video game controller long enough to fill out forms.

Privacy concerns abound. Of comfort is the fact that the study is completely voluntary, requires informed consent, and allows for withdrawal at any time. Additionally, all genetic and health data are made anonymous via a number coding scheme that makes it near impossible to trace information back to the individual.

Computational advances will have to keep pace with the advances in genomic sequencing technology to be able to upload, categorize, and share globally the comprehensive datasets that genome wide association studies provide.

Despite the challenges, RPGEH remains a powerful engine of discovery and the group discussion reflected optimism. The event attracted representatives from Congress, genetics aficionados and newcomers alike. The room erupted in commiserating laughter when one attendant made light of his scant scientific background, “I feel like a C+ student in a room full of valedictorians.” Discussion moderator, Meredith Wadman of Nature, celebrated the intersection of minds from different backgrounds as a testament to how research is changing for the better: Different views can engage topics that were previously isolated information silos.