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Research Program on Genes, Environment, and Health


Building a Biobank

The Research Program on Genes, Environment, and Health (RPGEH) began in 2000 as a collaboration of research scientists at the Division of Research and the University of California, San Francisco’s Institute for Human Genetics (IHG), under the leadership of Catherine Schaefer, PhD, Research Scientist at the Division of Research, and Neil Risch, PhD, Director of the IHG at UCSF. Drs. Schaefer, Risch and colleagues sought funding to establish a biobank of linked biospecimens and electronic health records that could be used by RPGEH and collaborating scientists to conduct research on genetic and environmental influences on a wide variety of health conditions and diseases. The large, diverse and stable membership of Kaiser Permanente Northern California and the comprehensive longitudinal electronic health records provide an unparalleled platform for establishing a biobank for genetic epidemiology research.

The RPGEH began with funding from the Wayne and Gladys Valley Foundation and the Ellison Medical Foundation, and a grant from the Kaiser Permanente Community Benefit Program. Funding from these sources helped to establish the RPGEH, which began with a survey of close to 2 million Kaiser Permanente adult members in 2007. About 400,000 individuals completed a survey, providing data on demographics, health behaviors and health history that augmented the information in electronic health records. In 2008, a grant from the Robert Wood Johnson Foundation enabled the research program to collect and store the first 200,000 samples in the RGPEH biobank, and build a secure database with relevant health and environmental information. The RPGEH re-contacted survey respondents and obtained signed consent and a saliva sample through the mail. Subsequently, the RPGEH transitioned to collecting blood samples from consenting participants in Kaiser Permanente clinics and transporting the serum and EDTA-preserved blood to the RPGEH biorepository for processing and storage.

The following year, the RPGEH was the recipient of a “Grand Opportunity” grant from the National Institutes of Health for a project entitled “A Resource for Genetic Epidemiology Research in Adult Health and Aging” (GERA). The two-year grant — shared jointly with the UCSF’s Institute for Human Genetics — funded genome-wide SNP genotyping of DNA samples from 100,000 members of the RPGEH, along with measurement of telomere length on the same individuals. The GERA data is maintained and stored by RPGEH, which de-identifies and links genetic data with survey and EHR data for use by research projects. In 2012, the RPGEH established an online application process and Access Review Committee to enable RPGEH/Kaiser Permanente researchers, as well as researchers from other institutions, to obtain access to the GERA data and to the wider RPGEH resource.

To enable studies of environmental (non-genetic) factors that influence health and disease, the RPGEH developed collaborative arrangements with Geographic Information System (GIS) databases maintained by the California Department of Health that included longitudinal data on air and water quality, pesticide exposure, and other factors. In addition, the RPGEH collaborated on the development of GIS databases on the social and built environments, including data from the U.S. Census, and data on traffic patterns, land use, commercial and retail properties, parks and sidewalks that were linked to RPGEH participants by residential address.

In 2012, the RPGEH began development of a Pregnancy Cohort for research on women’s and children’s health related to the prenatal period. Pregnant women were informed and enrolled in the RPGEH by staff in Prenatal Clinics. Blood samples were collected in the first and second trimesters for storage of serum and DNA in the RPGEH biorepository, resulting in a cohort of about 24,000 pregnant women in 2017.

RPGEH has also deposited de-identified genetic, survey, and health data from the GERA cohort into the database of Genotypes and Phenotypes (dbGaP), the online database of the National Institutes of Health, giving researchers worldwide access to a unique resource that can be used to investigate the genetic and environmental determinants of many different diseases.

Kaiser Permanents is now building on the success of the Research Program on Genes, Environment and Health with the establishment of the Kaiser Permanente Research Bank. The Research Bank is expanding on the RPGEH’s work in Northern California, inviting all adults among Kaiser Permanente’s 10 million members across the country to contribute their DNA samples and data to this unique resource. Access to the resources of the RPGEH and KPRB is now requested through an application to the KPRB Access Review Committee through the link above.

The Research Program on Genes, Environment, and Health will continue its work as a research program, using the large-scale genetic, molecular, environmental and health information developed by the RPGEH and KPRB to enable research on important questions about both disease and health.