Plan, scientists genotype 100,000 members' DNA

August 15, 2011

Kaiser Permanente and University of California, San Francisco (UCSF) scientists have genotyped the DNA and analyzed the length of chromosome tips in more than 100,000 members.

Kaiser Permanente and University of California, San Francisco (UCSF) scientists have genotyped the DNA and analyzed the length of chromosome tips in more than 100,000 Kaiser Permanente members who agreed to be part of a research project funded by the National Institutes of Health.

The project is expected to provide scientists with high-quality, genome-wide genetic data on a large and diverse population, according to lead investigators Cathy Schaefer, PhD, executive director of the Kaiser Permanente Research Program on Genes, Environment and Health (RPGEH); and Neil Risch, PhD, co-director of the RPGEH and director of the UCSF Institute for Human Genetics.

“The RPGEH invited all adult members of Kaiser Permanente in Northern California to participate in the program. This is a diverse region, so diversity was built in to the RPGEH,” says Maureen McInaney-Jones, communications manager with Kaiser Permanente. “For the genotyping project, 100,000 participants were selected to maximize diversity in this cohort. Approximately 25% of the 100,000 are minority and 75% are non-Hispanic whites.”

The genetic information generated by the project will also include data about drug metabolism and drug response, which may help researchers to discover genetic factors that explain differences in the way people respond to medications.

The project has now completed its first phase, which was to extract and genotype DNA from a cohort of 100,000 participants with an average age of 65 and measure the length of participant telomeres - tiny units of DNA that bind the ends of chromosomes. Telomere length may reflect the degree of aging in a person’s cells and may be a marker for age-related conditions.

Results of the genotyping and telomere length analysis will be linked to a broad spectrum of California environmental data and to current and historical health-related information from participant health surveys and the Kaiser Permanente electronic health record.

The genotyping project was made possible by a two-year, $24.8 million grant awarded in September 2009 to the Kaiser Permanente RPGEH and UCSF by the National Institutes of Health. Funding for the grant came from three sources: the National Institute on Aging, the National Institute of Mental Health, and the Office of the Director.

Over the next year, data from the genotyping project will be processed and cataloged by RPGEH and UCSF scientists.

“Data from the genotyping project will be available to researchers beginning in late 2012 through the Kaiser Permanente RPGEH and the National Institutes of Health Database of Genotypes and Phenotypes (dbGaP),” says McInaney-Jones.