How 100,000 Californians are changing health care

DNA swab of saliva taken from senior man. Photo: Thinkstock.
DNA swab of saliva taken from senior man. Photo: Thinkstock.

More than 100,000 older Californians are on the leading edge of precision medicine, a trend that could transform modern health care.

The Californians, all age 60 or older and patients of Kaiser Permanente in Northern California, agreed to answer survey questions and allow their medical history and DNA to be used to form a database that has been used for several studies published in the journal Genetics.

But that’s just the beginning. Data from the participants will continue to inform studies in the years ahead as researchers get a real-time glimpse at possible links among genes, the environment, human behavior and health.

Last month the National Institutes of Health announced a multi-million dollar, multiyear national clinical trial that will use data and electronic records from thousands of participants across the U.S. to advance the field of precision medicine.

Precision medicine, currently in its early stages, allows patients to be treated very specifically based on their own genetic makeup and what doctors learn about the behavior of genes in general.

Several key papers on precision medicine were published in the journal Genetics in June, all based on the time, health memory, saliva and blood donated by members, ages 60 and above, of the Kaiser Permanente Medical Care Plan of Northern California. The members answered survey questions on lifestyle and medical history, gave permission for decades of their electronic records to be mined, and provided DNA, via blood or saliva samples, that is a linchpin for the data.

Called the Genetic Epidemiology Research on Adult Health and Aging or GERA, the robust data set is a subset of Kaiser Permanente’s Research Program on Genes, Environment, and Health (RPGEH) initiative, launched in 2007, which includes more than 400,000 adult members of Kaiser Permanente’s system in Northern California.

The focus on diseases of aging was launched because the average age of survey responders was 63, according to Neil Risch, PhD, director of the UCSF Institute for Human Genetics, which is a partner with Kaiser Permanente on both GERA and RPGEH.

Major funding for GERA came in 2009 when Risch and Catherine Schaefer, PhD, director of the Kaiser research program, learned of “grand opportunity” NIH funding under the American Recovery and Reinvestment Act.

“We certainly thought the findings that could come of the research—better prevention and treatment for diseases of aging—would be a “grand opportunity” says Schaefer.

The two-year NIH grant gave the project $25 million which the researchers say enabled them to vastly speed up data processing and genetic typing. By 2011, scientists had genotyped the DNA of the GERA participants.

“By funding this project, the National Institutes of Health has significantly accelerated research into conditions such as cardiovascular disease, diabetes, cancers, mental health disorders, and age-related diseases such as Alzheimer’s disease,” said Schaefer.

GERA findings are currently still at the research phase, but could move into early treatment and prevention options in the next few years.

The recent Genetics papers reported on the population structure and genetic ancestry of the GERA participants and the length of participants’ 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.

Schaefer says one strong possibility for turning the research into action may be more appropriate dosing for certain drugs within the next year or two. Twenty percent of GERA’s participants belong to minority groups, which the researchers say adds to the value of the data.

Results of the genotyping and telomere length analysis have been linked to California environmental data—based on zip codes of participants– and to current and historical health-related information from participant health surveys and the Kaiser Permanente electronic health records.

Because the records are updated daily, researchers have access to information that reflects the real world disease and lifestyle experience of the participants.

Last year the data was added to the database of Genotypes and Phenotypes (dbGaP), an online genetics database maintained by the National Institutes of Health.

“The GERA cohort has the largest number of people — of any age — with data in dbGaP,” said National Institute on Aging (NIA) Director Richard J. Hodes, M.D. at the time the data was added. “I look forward to new insights that such a unique resource might offer for better health with age.”

The genetic information in the GERA cohort translates into more than 55 billion bits of genetic data, according to the NIA. In addition to diseases and conditions traditionally associated with aging, such as cardiovascular disease, cancer and osteoarthritis, researchers will be able to look at potential genetic beginnings of many diseases that affect people in adulthood, including depression, insomnia, diabetes and certain eye diseases.

Catherine Schaefer says researchers will also be able to use the database to increase the size and power of their collected data sets by adding GERA data to their studies. And as GERA data is updated, it is added to the NIH database.

What’s especially significant about having this huge data resource, says Dr. Schaefer, and the data to be collected by the larger NIH clinical trial, is that researchers can launch their inquiries without first having to collect clinical information, take bio samples, safeguard and store them, or conduct genome-wide genotyping of the DNA.

“They can simply sit at a computer, ask questions of the data, and extract information,” says Schaefer.

Schaefer says that critical to the research are the electronic health records that define who does and does not have a disease, what lab tests were done and what treatment given.

“So really the whole side of the equation which has to do with understanding the disease is captured in the (electronic health record) and you can marry it to the genetic and environmental data and really begin to ask some powerful questions about what leads to the disease, key determinants of who develops the diseases and who does not, genetic and non-genetic contributions and what are best things to do about it.”

Schaefer and Risch both credit the many older Kaiser Permanente members who took time to respond to the surveys, but are not surprised that they did.

“It’s not uncommon that older people volunteer for health research,” says Schaefer. “Could be that they have time to complete the survey, or even have more time to consider wither they want to complete the survey, and health is often a more important issue for older people, both their own, and they probably have been involved in the care of their parents. And, witnessing the effects of aging on their parents and themselves, health becomes quite relevant.”

Because the average age of the participants is 63, researchers will also be able to use the GERA data to look the process of aging.

“Not just discrete diseases that happen but also the pathways, the series of events that happen where changes in blood pressure lead to hypertension, for example, or how changes in kidney function lead to kidney failure and transplant, and changes in cholesterol lead to a heart attack,” Schaefer says. “The data enables researchers to ask all kinds of questions that really have the potential to make a difference.”

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