Science in the Spotlight

Harnessing Technology & Science: Researchers Collaborate to Build an Unprecedented Resource

Recognizing both the power of technology and the priceless health information contained in the human genome, Kaiser Permanente and the University of California San Francisco (UCSF), have formed a groundbreaking collaboration in order to produce one of the largest biobanks in the world.

A biobank is a repository—or storage space—for biological samples to be used in research. They give researchers access to data (like genetics and disease information) and samples (like blood and saliva) from large numbers of people. Those data and samples can then by analyzed for answers to questions on diseases and health. This particular biobank is unique for a number of reasons.

A Novel Resource for Research

First is its size. To-date, scientists from Kaiser and UCSF have genotyped the DNA of 100,000 Kaiser Permanente members. Importantly, these members have consented to participate in the research and all of their information is stored in the biobank anonymously.

To-date, scientists from Kaiser and UCSF have genotyped the DNA of 100,000 Kaiser Permanente members.

But it’s not just about the DNA. Because these are patients in the Kaiser Permanente electronic health records system, researchers are able to link their genetics to their health histories—things like their lab tests, EKGs, hospital records, medication usages, and more. By merging the clinical and the genetic information, researchers hope to reveal breakthroughs on how to prevent and treat diseases.

The teams at Kaiser and UCSF have also linked their clinical and genetic data to environmental information. Things like air and water quality, access to parks and healthy food, exposure to environmental contaminants, and more, are all linked to the individual. This means that researchers can use this resource to increase our understanding of how our environment impacts our health and puts us at risk for disease.

All of the data, the samples, and the answers generated from the biobank will be shared and leveraged amongst scientists around the world.

Additionally, because they have access to information on the drugs that patients have taken, researchers are able to learn about how individuals respond to drugs differently. This could eventually lead to discoveries of genetic factors that explain these differences, and eventually allow for very personalized treatment decisions--without the burden of trying multiple drugs before finding the right one.

To maximize its impact, this biobank will be made publically available for research. All of the data, the samples, and the answers generated from the biobank will be shared and leveraged amongst scientists around the world.

Telomere Length

While the researchers were busy getting the genotypes from the 100,000 participants, they also sent samples to the UCSF lab of Elizabeth Blackburn, PhD, who won a 2009 Nobel Prize for her discovery of telomeres.

Telomeres are the protective “caps” on the end of chromosomes—often compared to the plastic tips on the ends of shoelaces. If you lose them, the ends can start to fray. In humans, our telomeres slowly wear down and scientists believe that their length can be a good measure of longevity and age-related conditions.

Scientists are eager to understand why length varies from person to person. Why can a 60-year-old have shorter telomeres than someone 20 years their senior? Or the other way around? This database of telomere length is merged with the larger Kaiser-UCSF database and will allow scientists to look for links to genetics, to prior health, and even to the environment. The National Institute on Aging at the National Institutes of Health (NIH) was a major driver of this research project, in large part because the knowledge that stands to be gained in the field of longevity is enormous.

Timing is Everything

While funding for the Kaiser-UCSF project from the National Institutes of Health was key, as was a strong collaboration and access to both genetic and health history information, what really made this project possible was timing.

There are companies out there today that can sequence the genome of an individual for a mere $1,000. This is 3 million times cheaper than what it cost to sequence a genome during the Human Genome Project in the early part of the last decade. It’s the enormous power of computing technology, combined with the rapid pace of genetic technology, that has brought the cost down and made it possible to do this level of DNA analysis in such a short time.

“This project reflects the incredible advances that have occurred in the past decade in the field of genomics and the speed and cost-effectiveness of genotyping technology,” said UCSF professor Pui-Yan Kwok, MD, PhD in a press release from UCSF. “Three years ago, we could never have undertaken a project of this size, much less completed it in only 15 months.

Still to Come

That amount of shared data will revolutionize research and could completely transform how we understand the causes of disease and health, and why we age.

The biobank of 100,000 genotypes will be launched for public access this Fall. But the collaborative is not stopping there. The plan is to collect DNA samples and health surveys from 500,000 Kaiser Permanente members by 2012.

That amount of shared data will revolutionize research and could completely transform how we understand the causes of disease and health, and why we age.