Current situation and future prospect of biobank

Population biobanks

These biobanks aggregate biospecimens and longitudinal health data from extensive and diverse cohorts to facilitate research into gene-environment-lifestyle interactions. The UK Biobank, housing 500,000 samples interconnected with electronic health records, has been instrumental in groundbreaking GWAS.^[27] Such studies have identified genetic risk loci, including apolipoprotein E for Alzheimer’s disease and solute carrier family 39 member 8 for cardiovascular disorders.^[28,29] Emerging initiatives like China’s Taizhou Longitudinal Study are integrating multi-omics profiling to chart population-specific disease trajectories, emphasizing their significance in guiding public health policies.^[30]

Disease-specific biobanks

Focused on understanding pathological mechanisms and promoting therapeutic discovery, these biobanks curate samples from defined patient cohorts. The Mayo Clinic Renal Cell Carcinoma Biobank serves as a prime illustration of this classification, integrating cryopreserved tumor tissues with epigenomic datasets to unveil therapy-resistant subclones.^[31] Similarly, the Alzheimer’s disease neuroimaging initiative systematically archives cerebrospinal fluid and neuroimaging data, facilitating the validation of biomarkers for tau-targeted therapies.^[32]

According to sample types, they can be classified into the following three categories.

Tissues and organs biobanks

An organizational sample bank is a biological resource bank specifically dedicated to collecting and preserving human or animal organ and tissue samples, including tumors, skin, heart, liver, and kidneys. Its core value lies in maintaining the biological integrity and pathological characteristics of the samples. These banks primarily serve basic medical research, clinical diagnostic, and therapeutic purposes.^[33] For instance, human tumor xenograft models can be established using patient tumor tissues to test the sensitivity to chemotherapy and guide the application of clinical chemotherapy drugs.^[34]

Cell biobanks

Cellular biobanks are specialized facilities dedicated to the collection, preservation, and management of diverse cell resources, encompassing primary cells, cell lines, and stem cells, with the aim of providing standardized cell materials for scientific research, drug development, and clinical treatment.^[35] Their primary goal is to uphold the viability, genetic integrity, and functionality of cells to align with the requirements of regenerative medicine, precision medicine, and basic research. Different cell types have various applications: cryopreserved chimeric antigen receptor T-cell immunotherapy cells can be used in leukemia treatment, mesenchymal stem cells in tissue repair research, and embryonic stem cells in developmental mechanism studies.^[36-38]

Organoid biobanks

Organoids are three-dimensional cellular structures created by culturing pluripotent or adult stem cells in vitro, effectively replicating the physiological and pathological characteristics of organs in vivo.^[39] Compared with traditional two-dimensional cell culture models, organoids have structures and functions that are closer to real organs, making them well-suited for investigating organ growth, development, and pathogenesis. In recent years, organoid research has progressed swiftly, assuming a significant role in biological sample repositories. Their utility spans across regenerative medicine, drug screening, gene editing, and precision medicine, offering extensive potential for further development and application.^[40] For example, colorectal cancer organoids harboring antigen-presenting cell/ tumor protein 53 mutations allow for real-time tracking of chemoresistance via live-cell imaging.^[41] These organoids offer personalized therapeutic validation clinically, as evidenced by cystic fibrosis organoid arrays that assess the efficacy of cystic fibrosis transmembrane conductance regulator (CFTR) modulators through electrophysiological chloride flux evaluations, guiding treatment regimens for rare CFTR variants.^[42] In drug discovery, high-content screening platforms utilize glioblastoma organoid libraries to identify blood-brain barrier permeability of candidate compounds.^[43]

Traditional storage technology

During its early phases, biobanks primarily utilized refrigeration units and liquid nitrogen tanks for sample preservation, with manual procedures overseeing sample handling. This approach was associated with challenges such as imprecise storage conditions, limited automation, inefficient sample management, and a high susceptibility to human error.^[45]

Emerging storage technology

The advent of novel cryoprotective agents, including ice recrystallization inhibitors and nanoparticle-based carriers, has revolutionized biobanking by mitigating ice crystal damage, scavenging oxidative stress, and optimizing cryopreservation media, thereby significantly enhancing sample viability and functionality.^[46] These innovations address critical limitations of traditional cryoprotectants, such as cytotoxicity and suboptimal recovery rates. For instance, biomimetic antifreeze molecules, inspired by natural antifreeze proteins, exhibit enhanced ice-inhibition efficacy while ensuring biocompatibility.^[47] The multifunctional ice-growth suppression system revolutionizes cryopreservation by enhancing stem cell viability through dual cryoprotective mechanisms, meeting the demands of therapeutic applications at a clinical scale.^[48]

Information management technology

Biological sample banks began incorporating information management systems to digitally document and manage data related to sample collection, storage, and utilization. For instance, the software ONCO-i2b2, funded by the Lombardy region and developed by the National Institutes of Health project in the United States, enables the integration and collaborative querying of data from diverse origins. This platform retrieves and consolidates data from biobank management software and the field service management hospital information system. By integrating ontology and open-source software tailored to the relevant problem domain, a natural language processing module is implemented. This module automatically extracts clinical information of tumor patients from unstructured medical records, achieving comprehensive, lifecycle-based, information-centric sample management.^[49]

Intelligent and remote monitoring technology

Currently, biobank technological innovation has advanced into the intelligent era, integrating cutting-edge technologies such as 5G-internet of things (5F-IoT) and digital twins. The integration of 5G-IoT enables the interconnectedness of various devices within the biobank, facilitating smooth data exchange. Users can access real-time biological sample storage information through mobile devices and engage in remote monitoring and operational activities. Digital twin technology constructs data-driven models of equipment for simulation and predictive maintenance, ensuring long-term operational stability.^[50]

Data integration and collaborative models

The integration of multi-omics data with clinical and environmental metadata is reshaping biobanking. The Estonian Biobank (EstBB), a prominent population-based biobank in Europe, serves as a prime example of how this integration is revolutionizing biobanking and personalized medicine. Established 25 years ago, EstBB encompasses 212,000 participants and harmonizes genomic, metabolomic, proteomic, and microbiome data with extensive health records and lifestyle metadata, creating a robust resource for translational research.^[51] Similarly, the UK Biobank showcases the impact of longitudinal data, with its 500,000-participant cohort driving advancements in disease risk prediction.^[52] Despite these advances, challenges such as fragmented governance and disputes over intellectual property impede seamless cross-border data sharing.

Sharing and utilization of biobanks

The sharing and utilization of biobanks adhere to meticulous and standardized protocols, typically involving procedures such as sample request and approval, execution of legal agreements, sample dispersal and shipment, as well as post-usage feedback and monitoring. During the process, dynamic management of informed consent should be carried out to ensure data privacy and security, while also addressing the allocation of intellectual property rights and interests. For instance, the Cancer Genome Atlas integrates genomic data from 20,000 tumor samples and offers unrestricted access to researchers globally, fostering advancement in scientific research.^[53]

Ethical implication

Biobanks are predominantly intended for prospective research with evolving aims, rendering the traditional “onetime informed consent” model inadequate to accommodate the dynamic nature of research and the long-term reuse of samples. For example, the Icelandic deCODE biobank has faced significant controversy due to its use of national health data for developing genetic risk prediction models.^[54] Although participants provided broad consent, subsequent commercial applications have raised public concerns regarding the “insufficient transparency in secondary data usage.” To address these challenges, contemporary ethical frameworks have introduced a dynamic consent mechanism, allowing participants to continually update their preferences for data usage in real time through digital platforms. Moreover, broad consent has emerged as a specialized form of consent within biobank ethical governance. Within this framework, participants consent to the use of their samples and data in future research endeavors with unspecified purposes upon donating biological specimens, thereby facilitating support for long-term and diverse research requirements.

Legal implication

The legal challenges associated with biobanks primarily stem from data jurisdiction fragmentation. The European Union’s General Data Protection Regulation categorizes genetic data as “special category data,” mandating additional authorization for cross-border transmission.^[55] Similarly, China’s Personal Information Protection Law classifies genetic data as “sensitive personal information,” necessitating distinct individual consent and imposing stringent restrictions on processing purposes and methodologies.^[56] In contrast, the United States Health Insurance Portability and Accountability Act permits the unrestricted flow of de-identified data. These regulatory discrepancies necessitate complex data safe harbor agreements in multinational research initiatives.^[57] Furthermore, there remains a lack of international consensus regarding the ownership of samples and data. The regulatory landscapes of biobanks are summarized in Figure 3.^[58-62]

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Figure 3:

Regulatory Landscape of Biobanks (Name: Adobe After Effects; Version: CC 2023; Manufacturer: Adobe Systems Origin: United States/Name: Adobe Photoshop; Version: 2023.25; Manufacturer: Adobe Systems; Origin: United States; the URL of the database referenced by all elements: https://smart.servier.com/ and https://scidraw.io/. These platforms provide materials under the CC BY 4.0 license, which permits free use with proper attribution).

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Social implication

The societal implications of biobanks are multifaceted. These repositories house extensive collections of blood, tissue, DNA, and various biological samples, offering researchers a diverse and comprehensive resource for investigating disease mechanisms and advancing drug development.^[58] Within the realm of public health, analyzing stored samples facilitates disease trend monitoring, epidemic source tracing, and the establishment of evidence-based strategies for prevention and control. For instance, examining genetic mutations or protein markers in samples can predict the risk of certain cancers and cardiovascular diseases, facilitating early intervention. Simultaneously, it contributes to the assessment of the effectiveness of public health interventions and the enhancement of overall prevention and control protocols to safeguard public health.^[59] Moreover, biobanks stimulate advancements in related industries such as biotechnology and biomedicine, attract capital investment, and generate economic value.