C-A3-04: The Kaiser Permanente Research Program on Genes, Environment and Health: A Resource for Genetic Epidemiology in Adult Health and Aging.

Schaefer C; the RPGEH GO Project Collaboration.

Abstract

Aims The Kaiser Permanente Research Program on Genes, Environment and Health (RPGEH) is designed as a resource for epidemiologic studies of genetic and environmental influences on health and disease. The resource links together clinical data from electronic health records (EHR), demographic and behavioral data from participant surveys, and data on the social and physical environments in participants' neighborhoods, with saliva and/or blood samples for deriving genetic and other data. When completed in 2013, the RPGEH is planned to include 500,000 members of Kaiser Permanente in Northern California (KPNC). Participants provide informed consent for a broad spectrum of health research and sharing of data with collaborating investigators from many institutions. Methods As of October 2010, 430,000 mailed surveys and 154,000 biospecimens and consent forms had been collected from adult participants. Several collaborative genome-wide association studies that utilize RPGEH resources are underway. In September 2009, the RPGEH received an NIH grant to conduct genome-wide (675,000 SNPs) genotyping and measurement of telomere length on 100,000 participants. The average age of the participants is 65 years; approximately 24% (24,000 of 100,000) are African American, Asian, or Latino; the remaining 76,000 are non-Hispanic white. Custom microarrays have been designed to include newer SNPs from sequencing projects, high density coverage in gene regions, significant SNPs from the literature, SNPs in pharmaco-response genes, better coverage among racial-ethnic minorities, and good coverage of the entire genome. Results To date, DNA has been extracted from 90,000 samples, and about 48,000 samples have been genotyped. Genotyping call rates and other measures of quality are excellent. The project will be completed in 2011. Conclusions The resulting integrated database of genome-wide genotypes, telomere length, and rich environmental and clinical data on a diverse cohort of 100,000 adults constitutes an unprecedented resource for research on genetic and environmental determinants of aging-related diseases, response to treatment, healthy aging and longevity. The RPGEH has developed collaboration and access procedures to facilitate sharing of these data. The development of this resource shows the potential for collaborative research in a large integrated health services delivery organization with a comprehensive EHR, linked biospecimens and environmental exposure data.