Data for 100,000 Californians Powering Disease Research

The first published research for a precision medicine project based on electronic health records and genetic data from more than 100,000 Californians is proving to be a powerful tool.

The research is pinpointing genetic variants linked to prostate cancer, allergies, glaucoma, macular degeneration, diabetes, and high cholesterol.

“By linking these clinical records with genomic data from each person, we now have the power to track down many genetic and environmental contributions to disease,” said project co-principal investigator Neil Risch from the University of California, San Francisco (UCSF). “No matter which disease we’ve looked at, we found genetic variants that influence it. And the beauty of this dataset is that it covers countless diseases and traits, and the medical records are constantly being updated as the cohort grows older.”

Also See: Precision Medicine Requires Unlocking Data from EHRs, Other Sources

Given that the average age of participants in the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort is 63, researchers are focusing their efforts on aging-related diseases. Their articles, published in the journal GENETICS, describe volunteers’ genetic characteristics, how their self-reported ethnicity relates to genetic ancestry, and details of the innovative methods that allowed them to complete DNA analysis within 14 months.

GERA was created in 2009 through a collaboration between the Institute for Human Genetics at UCSF and the Kaiser Permanente Northern California Research Program on Genes, Environment, and Health (RPGEH), an ongoing study of more than 200,000 members of the Kaiser Permanente Medical Care Plan who have consented to share data from their electronic health records with researchers, along with answers to survey questions on their behavior and background.

The EHRs include clinical, pharmacy, and laboratory test information. In addition, participants also contributed saliva samples, and more than 100,000 of these samples were selected for genetic analyses performed at UCSF as part of the GERA cohort.

“This is an incredible treasure trove of data,” added Risch. “The information collected during medical care is much more comprehensive than the isolated measurements we would make in a traditional research study.”

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