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Kaiser Permanente, UCSF Genotype 100K People

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – Managed care organization Kaiser Permanente and the University of California, San Francisco today announced they have genotyped the DNA and analyzed the length of telomeres in more than 100,000 people as part of a genomic project.

The research represents the first major milestone reached by the partners, who began the project in 2009 with a two-year, $24.8 million grant from the Kaiser Permanente Research Program on Genes, Environment, and Health (RPGEH), and the National Institutes of Health.

"The completion of genotyping on this large and diverse population marks an unprecedented milestone in population-based genetics research," Richard J. Hodes, director of the National Institute on Aging at the National Institutes of Health, one of three institutes within NIH that provided funding for the effort, said in a statement.

"The genetic information, combined with the longitudinal clinical and health data that are already part of the Kaiser Permanente database, along with California environmental data, will create a unique and powerful resource to help answer research questions about aging, health, and disease," he said.

The first phase of the project was to extract and genotype DNA from a cohort of 100,000 participants with an average age of 65 and to measure the length of their telomeres. The participants in the project were Kaiser Permanente members.

Kaiser Permanente and UCSF said that the project will offer "a novel resource for the world of health science research by providing scientists with high quality, genome-wide data on a large and diverse population." Genetic information generated will also include data about drug metabolism and drug response, which could be used to study genetic factors that may ultimately help physicians determine the best course of treatment for ailments such as cancer and heart disease.

The results from this first phase will be linked to a "broad spectrum" of California environmental data, as well as to current and historical health-related information from participant health surveys and the Kaiser Permanente electronic health record.

Completion of the milestone was achieved in 15 months. Neil Risch, co-director of Kaiser Permanente RPGEH, and director of the UCSF Institute for Human Genetics, said that such a pace was made possible by critical factors such as Kaiser Permanente's extensive health records, and the willingness of so many of its members in the diverse Northern California region to participate, as well as a history of collaboration between Kaiser Permanente and UCSF.

Risch also cited new genotyping technology from Affymetrix.

"The truth is that this project would have been impossible at any other time or place," Risch said. "No single institution could have combined this level of genetic science with such deep health records on this diverse and large a number of patients. And without the funding, we could never have developed the technology to make this happen."

To complete the genotyping project, Kaiser Permanente built a new, high-throughput laboratory in Oakland, Calif., for extraction of the DNA. The DNA was then transferred to UCSF's Institute of Human Genetics, which collaborated with Affymetrix to create custom Axiom arrays for genotyping 675,000 to 900,000 genetic markers across all 100,000 samples.

The project will result in the largest resource of telomere data available, and will be the first such resource linked to health records of such numbers and diversity through Kaiser Permanente, according to the partners.

During the next year, researchers from Kaiser Permanente and UCSF will process and catalogue the genotyping data, which will be made available to researchers in late 2012.

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