History of biorepositories
Biobanking has evolved over the years, though human specimens have been collected and stored for over 100 years1. Initial specimen banks were relatively small and based their operations on the needs of a specific study. As such, record keeping was typically limited to the researcher’s lab notebook, with samples stored in a single freezer. These early repositories continued to grow in size but remained predominantly university and academic-based. They would eventually gain governmental support and increase the scope of their functions from serving the needs of specific research projects to more general research aims.
In time, different types of biorepositories also started to appear. One such type of new biorepository was the disease-centric biobank, like the AIDS specimen bank founded in San Francisco in 19821. Researchers from various fields developed a small biobank that could help find the causative agent of the AIDS virus. This trend would continue with more disease-centric biobanks, population-based biobanks, and biorepositories for animal tissue, plant seeds, and more established over the following years. The last two decades have especially seen a significant increase in the number of population-based biobanks worldwide.
This sharp increase in biorepositories and biobanks revealed a lack of standardized protocols for collecting and storing biospecimens and their data. This resulted in low-quality specimens with poorly annotated data that actually slowed down progress on research topics like cancer. Out of this grew the need to create standard operating procedures (SOPs) for collecting, processing, and annotating samples. To this end, in 2000, the International Society of Biological and Environmental Repositories (ISBER) was formed. Created by a diverse team of investigators, biobank managers, patient advocates, and others, they set out to meet yearly and share their knowledge and experience in the field in order to establish certain best practices. First published in 2005, their guide to best practices for repositories remains one of the most important publications and resources for biorepositories and biobanks. It covers a range of issues, including equipment, safety, quality control, cost recovery, specimen collection, storage and retrieval, and ethical concerns.
Biobank types & functions
Today, there are many different types of biorepositories. Some of the most common types include disease-centric, population-based, project-driven, and virtual biobanks. Disease-centric biorepositories concentrate on collecting specimens and data on a specific disease, such as cancer. This can be particularly helpful when studying rare diseases due to the scarcity of research participants, patient samples, and resources. The primary goal of population-based biobanks is to collect phenotypic and genomic information from their source population, consisting of both healthy and sick donors. These biorepositories serve as a great tool to identify new biomarkers of disease and to identify both environmental and genetic factors that may contribute to disease development. Project-driven biorepositories are typically run by a single investigator and are smaller in size and scope. Conversely, a virtual biobank is an electronic database of specimens and related information, irrespective of the actual specimen storage location. These virtual biorepositories can house sample and phenotype data from various sources and incorporate powerful search engines that allow data to be retrieved and viewed across all collections.
Regardless of the type of biorepository, they have the same four main operations they must perform:
- Collection: Biorepositories collect various biological samples from their donors. For biobanking, this can include tissue samples, blood, urine, and skin samples, as well as data about the sample and donor. It is vital that all collected biospecimen are accurately identified, ideally using barcode labels tagged with a unique identifier. This information, along with the associated specimen data, should then be entered into a biobanking system, such as a laboratory information management system (LIMS), for proper tracking.
- Processing: Once collected, the samples must be prepared for preservation. The form of preservation can vary depending on the type of biological material, with the most common form used being cryopreservation. At this stage, a general analysis, and if necessary, diagnosis is also typically done. This will often include a visual inspection and DNA analysis of the specimen. The samples may also be tested to ensure minimal variation is introduced during handling and preparation.
- Storage: The biospecimen are then placed in storage until they are requested for further study by a researcher. As stated previously, the most common method used is cryopreservation, whereby samples are stored in ultra-low temperature conditions in freezers (-80°C) and liquid nitrogen tanks (-196°C). However, certain samples may also be stored at room temperature, though they will typically be fixed prior to storage, likely in formalin or some other fixative solution.
- Distribution: The ultimate purpose of every biorepository is to eventually distribute their collected samples to researchers performing a variety of studies on specific diseases. The prior use of barcode labels should make tracking and sample retrieval simple. Most biobanks will also have some form of review process to ensure their valuable samples are sent to research teams that have been adequately evaluated and approved. This step also includes transporting the sample to its final destination, which should be done in low temperature conditions if required during storage.
Value & future significance
Once an innovative research tool, biorepositories have become an indispensable institution in the scientific world. They serve the vital role of meeting the growing demand for high-quality and well-identified biospecimen2. Disease-centric biobanks particularly represent the best way to study rare diseases, allowing limited resources and samples to be collected and shared by the scientific community. Population-based biobanks have also proven to be an invaluable asset in identifying new disease biomarkers and environmental factors of disease progression. In fact, the future of medical research is closely tied to the use of biorepositories and biobanks, relying on them to supply high-quality and diverse biospecimen and patient data.
One way biobanking is changing the way medical research is being conducted is with the creation of imaging biobanks2. These biobanks allow diagnostic images to be cataloged by high-throughput computing software and used as a non-invasive biomarker. Further work is still needed to make this technique more reliable and reproducible, but by linking these images with biological samples from the patient, it can represent a new frontier in biobanking. Biobanks are also at the forefront in developing personalized medicine, along with advances in genomics research. Given their importance in finding new biomarkers and collecting phenotypic and environmental data on various population groups, biobanks are an excellent resource for devising personalized treatment options unique to individual groups or even patients.
Biorepositories and biobanks still heavily rely on support from governments as well participation from patients and healthy citizen. But their growth over the past two decades has demonstrated their value to society, and a well-run, sustainable biobank can continue to provide high-quality and affordable biospecimen for years to come, supporting the planning and execution of research programs that will benefit everyone.
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- Yvonne G. De Souza and John S. Greenspan. Biobanking Past, Present and Future: Responsibilities and Benefits. AIDS. 2013 January 28; 27(3): 303–312.
- Coppola L, Cianfone A, Grimaldi AM, Incoronato M, Bevilacqua P, Messina F, Baselice S, Soricelli A, Mirabelli P, and Salvatore M. Biobanking in health care: evolution and future directions. J Transl Med (2019) 17:172