Health records and genetic data from more than 100,000 Californians power medical research

By volunteering to mail saliva to researchers working with their health care provider, thousands of people in California have helped build one of the nation's most powerful medical research tools. The researchers have now published the first reports describing these 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. The articles are published in the journal GENETICS.

"This is an incredible treasure trove of data. The information collected during medical care is much more comprehensive than the isolated measurements we would make in a traditional research study," says project co-principal investigator Neil Risch, University of California, San Francisco (UCSF). "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."

The data have already been used to investigate many diseases. For example, researchers have pinpointed genetic variants linked to prostate cancer, allergies, glaucoma, macular degeneration, diabetes, high cholesterol, and many more. "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," says Risch.

The Genetic Epidemiology Research on Adult Health and Aging (GERA) resource was created in 2009 by a collaboration between the Kaiser Permanente Northern California Research Program on Genes, Environment, and Health (RPGEH) and the Institute for Human Genetics at UCSF.

The RPGEH is 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 medical records with researchers, along with answers to survey questions on their behavior and background. The records include clinical, pharmacy, and laboratory test information. Participants also contributed saliva samples, and more than 100,000 of these samples were selected for genetic analyses performed at UCSF. These participants form the GERA cohort.

Because the average age of participants in the GERA cohort is 63, the GERA research team is focusing their efforts on aging-related diseases.

The data have been available to researchers through an application and review process managed by the RPGEH. Last year, the genetic data were also made available to the research community via the NIH program dbGaP. "The goal was to create a resource that many research groups could mine for genetic insights into a broad range of diseases," says Catherine Schaefer, GERA co-principal investigator and executive director of the RPGEH at Kaiser Permanente.

The new publications present crucial details of the methodology used to create the comprehensive genetic information on participants - including the length of their telomeres - chromosome caps that influence age-related diseases, as well as their genetic ancestry.