Getting sufficient numbers (and, more importantly, the right data) has always been one of the biggest issues when it comes to research and clinical studies. With the arrival and boom of biobanks, though, researchers began to have massive stores of biologic material for testing and investigation within their reach. While Europe leads the pack in the biorepositories market globally, the United States comes in second, with well over 100 biobanks or repositories. And among that number is Kaiser Permanente’s Research Program on Genes, Environment and Health (RPGEH). The RPGEH is the largest biobank in the United States, and there has been a good deal of hard work to get it there.

At the 61st Annual Meeting of the American Society of Human Genetics (ASHG), which was held jointly with the 12th International Congress of Human Genetics, researchers affiliated with the University of California, San Francisco (UCSF)and the RPGEH met to discuss the practical use of the biobank what its role might be like in the future. Thanks to funding from the Robert Wood Johnson Foundation’s (RWJF) Pioneer Portfolio and the National Institutes of Health,(NIH) researchers from RPGEH collaborated with members of the UCSF Institute for Human Genetics to collect 170,000 genetic samples and genotyped more than 100,000 of them in just over a year. The project could open doors in terms of studying the effects of genetic and environmental influences on patients over time.

The leaders of the biobank report that its ultimate goal is to amass a collection of data from half a million members of the Kaiser Permanente health plan and have it linked to information from electronic health records and population surveys.

“The potential of this database to transform the medical research field is awe-inspiring,” said Nancy Barrand, senior adviser for program development of the RWJF’s Pioneer Portfolio. “Its unequaled size and comprehensive nature open up new avenues for researchers to pursue in finding better ways to detect, treat and most importantly prevent disease.”

The conference covered a good deal of territory in terms of the biobank’s potential. Dr. Cathy Schaefer, executive director or the RPGEH, presented on the new population-based resource for genetic epidemiology research at Kaiser Permanente Northern California, which will offer researchers the ability to use longitudinal and comprehensive data from electronic medical records to study health conditions and responses to medication. There are already studies underway to take advantage of this, including one looking at prostate cancer among African American males, a multi-ethnic study on bipolar disorder and a pharmacogenetic study of patient response to metformin.

The research team also developed and applied four ethnic-specific arrays for European, African, Asian and Latino ancestry, allowing for better coverage of lower frequency variation, as well as opportunities to study patterns of disease within families. Among the information gathered within the RPGEH is telomere length, which has been identified as a broad marker for biological age and an indicator of overall health. Telomere length measurements will be included with the health data, genetic data and environmental factors to allow for a multifaceted comparison of patient data and the effects of environmental and genetic factors.

Unfortunately, despite the possibilities biobanks such as the RPGEH offer, they are not without their own issues. An article in Wired Magazine, published last May, details the problems that the National Cancer Institute ran into when they kicked off their Cancer Genome Atlas initiative. Despite the fact that the NCI had been assured by several biobanks that they could easily get the number of samples they needed (in the mid-hundreds), they ran into problems of inadequate sample quantity and quality.

Another issue associated with biobanks, and quite possibly the biggest one, is the issue of informed consent. The samples at biobanks come from patients during procedures or at individual instances of tissue donation. Whenever samples are selected to be used in studies, the researchers have to spend a great deal of time tracking down each sample donor in order to obtain consent to use their sample(s) in the study or studies. In a post on Nature’s blog a few weeks ago on Oct. 4, it was noted that more researchers are arguing that informed consent should be done away with and replaced with a different method of ethical oversight.

A team of Swedish researchers published a paper in the British Medical Journal arguing that the informed consent rules in place in countries like Sweden and the United Kingdom leave researchers with their hands tied and slow progress. Joanna Forsberg, of the Centre for Research Ethics and Bioethics at Uppsala University, was lead author of the paper. The team says a better option than informed consent would be to require ethical approval from ethics boards, allowing teams to funnel the money spent tracking patients back into the studies.

Still, issues aside, biobanking remains a strong facet of the research effort and a strong market in its own right. An article on the San Francisco Chronicle‘s website noted that according to a new report recently released by Global Industry Analysts Inc., the global market for biobanks is estimated to grow to over $22.3 billion by 2017. While issues such as informed consent, privacy concerns and sample ownership still need to be sorted out, the market is only getting bigger from here on out.