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Grand Opportunity Creates Cutting-Edge Research Potential

By Ann Wallace, Senior Communications Specialist

In 2009, the Research Program on Genes, Environment, and Health (RPGEH) received a Grand Opportunity grant from the National Institutes of Health (NIH) for a project entitled “Developing a Resource for Genetic Epidemiology Research in Adult Health and Aging.” When the nearly $25 million grant was awarded to Kaiser Permanente and the University of California, San Francisco as part of the American Recovery and Reinvestment Act, President Obama said of the promise this support held: “We can only imagine the new discoveries that will flow from the investments we make today.”

In the five years since, RPGEH investigators have delivered on all the aims outlined in the original proposal to create a unique and comprehensive resource that can be broadly used to investigate the genetic and environmental determinants of healthy aging and longevity, as well as aging-related diseases and their treatment.

The project links deep genetic data with comprehensive electronic medical records and information on behavioral and environmental factors for more than 100,000 members of Kaiser Permanente in Northern California (KNPC). In doing so, it creates a powerful platform for ongoing and future research that holds great potential for increasing understanding of the genetic and environmental basis of many different diseases and the basis for aging and health as well.

“To date, we have a little over 200,000 participants in RPGEH with blood or saliva biospecimens in the RPGEH Biorepository, and we have genome-wide single-nucleotide polymorphism data — over 675,000 genetic markers, using custom designed arrays — on 110,000 of those participants,” notes RPGEH Executive Director Catherine Schaefer, PhD. “We also have completed health surveys from 430,000 KPNC Health Plan members, including those who provided a biospecimen.”

Although there are similar efforts in countries ranging from England to China, this project has unique and special characteristics. The resource includes an extremely rich set of data, including comprehensive, longitudinal electronic health records (EHR); multi-year survey data on relevant behavioral and environmental factors; and newly added genome-wide data and telomere length from 100,000 participants diverse in age, race-ethnicity, and socioeconomic status. A large geographic information system database will capture and map environmental exposures to individual participants, including aspects of the built environment, air quality, and pesticide exposure.

The continuous updating of the EHR of cohort members will provide new incident cases and data on the course of disease and response to treatment over many years. The existence of historical data on behavioral and clinical risk factors from prior surveys and clinical records, including multiple measures of alcohol consumption, blood pressure, body mass, glucose tolerance, and lipids, will provide researchers with the opportunity to examine mid-life factors in relation to the development of diseases of aging, and to investigate the timing of exposures in relation to disease onset.

The availability of genome-wide data in such a large and diverse sample will enable researchers to identify genetic variants associated with healthy aging and with diseases for which no prior genome-wide association studies have been performed. The availability of extensive genetic and environmental data will create a unique resource that will enable testing of many complex hypotheses and pathways related to healthy aging and longevity, and disease onset, treatment and progression. The inclusion of measures of telomere length, a promising indicator of somatic aging and exposure to oxidative stress, will facilitate study of potential genetic and environmental influences on this important marker and its relationship to aging.

“The longitudinal data on such a large and fairly representative cohort allow us to look for common molecular origins of diverse diseases – a key concept in precision medicine,” says Dr. Schaefer. “We are able to observe common genetic influences on diseases such as diabetes and prostate cancer, which may provide new etiologic clues for one or both diseases. Further, the longitudinal data allow us to investigate potential genetic influences at different points in the life course, which could lead to insights on the relationship of diabetes or vascular disease to dementia, for example.”

The RPGEH has deposited its substantial collection of genotypic and phenotypic data in the Database of Genotypes and Phenotypes (dbGaP), maintained by NIH, to facilitate access and collaboration for other scientists. In addition to applying to dbGaP, researchers can register at the RPGEH web portal and complete an application for use of the data or biospecimens. An Access Review Committee reviews the applications for feasibility and merit and, if approved, provides data and/or biospecimens, as well as some preliminary data to help approved researchers who are applying for funding for their proposed research.

To see and hear more about the work of the Research Program on Genes, Environment, and Health, view “Researchers Aim to Unlock Genetic Data Goldmine for Vital Medical Information” on the PBS NewsHour.

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