Biobanking is not a new idea. It’s been around for decades. However, the arrival of more powerful informatics technologies has taken the idea of biobanking to new levels. Where a couple dozen or a couple hundred samples may have constituted a respectable biobank back in the ’80s, researchers now recognize that in order to get a handle on complex illnesses, it is necessary to access thousands and thousands of specimens, and perhaps thousands of megabytes of data for each specimen.
That challenge requires advanced tools as well as advanced understanding. The biobank is the interface at which the public interacts with pure research, and where, therefore, concerns of privacy and ethics interact with the tools of high-throughput screening and automation.
Questions of ethics and informed consent will top the docket at IQPC’s upcoming “Biobanking” conference. Experts from a number of leading biorepositories will speak about how their organizations are handling the deluge of patients and data in the modern biobanking movement.
Hakon Hakonarson, M.D., Ph.D., director of the center for applied genomics at the Children’s Hospital of Philadelphia (CHOP) at the University of Pennsylvania is actively involved with the hospital’s biobanking initiative. The bank will ultimately contain blood samples from 150,000 individuals, mainly children. Dr. Hakonarson’s presentation will explore some of the complexities of obtaining and curating the samples, as well as the issues of privacy and intellectual property that go with them.
CHOP is an active health center that serves over one million children annually in the Philadelphia area, says Dr. Hakonarson. When healthcare workers collect the samples, they enter phenotypic information into an electronic record system. A completed questionnaire accompanies the samples to the bank, where they are genotyped using high-throughput SNP genotyping systems from Illumina and Affymetrix in an automated workflow, he explains.
Integration of the patients’ health information with genotype information from a blood sample provides a huge quantity of information for research studies. Ongoing projects that make use of the CHOP biobank include studies in the areas of ADHD, asthma, autism, cancer, Crohn disease, schizophrenia, type 1 diabetes, and neurodevelopment.
Dr. Hakonarson says that the group has also created new cell lines to study the effects of the mutations identified by the genotyping studies, and his group has published over 100 papers in the last three years. “We’ve made significant progress in discovering ge.netic risk factors for complex pediatric disorders,” he says.
CHOP has addressed ethical conundrums by anonymizing samples using a barcoding system and powerful encryption algorithm so that none of the samples are identifiable. Recruitment rates have been high.
“These biobanks, if done correctly, are an extremely valuable source of information. People’s willingness to participate and donate samples as volunteers is a key issue. If set up correctly, it is highly secure and a tremendous resource for any therapeutic diagnostic development,” Dr. Hakonarson assures.
Obtaining informed consent to collect samples for a biobank can be challenging. Walter Stewart, M.D., director, Center for Health Research and associate chief research officer at Geisinger Health System, will speak about the method his institute developed for achieving a high rate of participation.
Typically, biobanks solicit samples from volunteers, and those volunteers have to be brought in for a blood draw. However, because Geisinger as a health system has its own patient population, setting up an automatic protocol was more straightforward.
Once consent is given, a lab slip is placed in the patient’s file and used the next time there is a medical need for a blood draw. At that time, an additional two tubes are added to the draw and barcoded for the biobank. This automatic method of sample collection garnered Dr. Stewart’s team an 85% participation rate.
“We didn’t have to pay for it except for cost of tubes. The system picks up from 40 clinics,” says Dr. Stewart. The conventional method of collecting samples costs $100–$200 per person, and then the biobank incurs added costs from following that individual over time. Within the Geisinger system, medical records are linked to samples so that the information is readily available.
Dr. Stewart is also involved in developing a method for using leftover blood samples with the help of database-tracking systems by an IRB-approved data broker. In addition, he speaks of using an interactive video system for obtaining consent from sample volunteers. According to Dr. Stewart, this will remove inconsistencies from the consent process that are otherwise introduced by the varying manners in which healthcare providers choose to present the material.