Introduction

In labs around the world, there is something groundbreaking happening: we are creating biobanks, which store genetic information that could change how doctors treat illnesses for each person. Imagine if just a small blood sample could reveal details about your health, leading to personalised treatments and ways to prevent diseases early. However, as these biobanks grow, there are important questions about privacy and consent that need to take place, and we need to make sure everyone benefits equally from this genetic knowledge.

What is a biobank?

A biobank is a repository that gathers plant, animal, and human specimens. It is an operational unit designed to streamline researchers' access to top-notch samples and their associated data worldwide.  Biobanks play a crucial role in biomedical research by supplying essential, top-notch specimens for studying diseases such as cancer. Insufficient or substandard samples can impede research, affecting the capacity to generalise results and create efficient treatments. Biobanks facilitate translational research aimed at enhancing personalised therapies and strategies for early disease detection.¹

Ethical considerations

Biobanking activities involve gathering, storing, and distributing human and non-human materials such as cells, tissues, fluids, genetic data, and other information for various research and healthcare purposes. While biobanking has become commonplace in these fields and during public health crises, there is inconsistency and sometimes absence of global governance standards. The complexity of biobanking practices presents risks, benefits, and ethical responsibilities that are not yet fully addressed or resolved.²

Understanding biobanks

Biobanks, as described by the European Commission, gather and maintain biological samples paired with medical and epidemiological data over time. They are integral to ongoing and prospective research initiatives, prioritising donor privacy through coded identifiers. Biobanks operate under structured governance to safeguard donor rights and stakeholder interests, aiming for broader societal benefits rather than individual advantages. Notably, they use pseudonymisation instead of anonymisation, allowing for feedback to donors and reconnection with their samples, which enhances research applicability and clinical significance.³

Types of biobanks

Biobanks are classified into different types such as tissue, twin, population, disease, organ, and nonhuman, with population-based and disease-oriented being the most recognised by BBMRI (Biobanking and BioMolecular Resources Research Infrastructure). Population-based biobanks gather longitudinal data and biological samples from healthy individuals to study biomarkers and genetic factors affecting disease susceptibility. Disease-oriented biobanks, like tumour banks, concentrate on discovering biomarkers, disease progression, and treatment responses using clinical samples. Cancer biobanks, a subset of disease-oriented biobanks, are essential for advancing personalised oncology through molecular classification, pharmacogenomics, and targeted therapies.¹

Major global biobanks include the UK Biobank and China Kadoorie Biobank, which collect extensive data and samples for large-scale studies. Challenges include ensuring sample quality and standardisation. Initiatives like caHUB (Cancer Human Biobank) aim to improve biobanking practices through standardised procedures. Biobanks play a critical role in contemporary medicine by supporting research into disease mechanisms, personalised treatments, and public health strategies.¹

Role of biobanks in advancing genomic medicine

Biobanks are instrumental in genomic medicine and research by fulfilling several critical roles. They provide extensive genetic datasets for studying population frequencies of genetic variants, essential for clinical genetic testing. Biobanks also generate whole-genome sequencing data used to create local reference genotype panels, enhancing genome-wide association studies and genotype imputation. Moreover, they supply genotyped samples for high-throughput assays, improving statistical power in studies on rare variants, and enabling Mendelian randomisation analyses.⁴

Biobanks integrate comprehensive phenotype data from questionnaires and health records, facilitating numerous genome-wide association studies and the development of polygenic risk scores for personalised medicine. Lastly, biobanks contribute to precision medicine by returning genomic results to participants, following established clinical guidelines and ethical considerations. These roles underscore biobanks' pivotal contribution to advancing scientific understanding and personalised healthcare through the integration of genomic data with clinical and phenotypic information.⁴

Ethical issues in biobanking

Biobanks are a subject of intense debate in bioethics and public health due to their potential for groundbreaking research advancements and health improvements for future generations. However, they also raise concerns as repositories of personal data and tissue that may be utilised without adequate regard for donor rights. Regardless of one's stance on this spectrum, biobanks represent a revolutionary ethical issue, challenging established norms and practices in medical research and privacy protection.⁵

In recent years, the adequacy of informed consent as the "gold standard" for ethical conduct in therapeutic practice and medical research has been questioned, particularly in genetic information and large-scale population studies.

Informed consent, as established by the Nuremberg Code and refined by the Declaration of Helsinki, requires that research subjects be fully aware of the nature, duration, purpose, risks, funding sources, and potential conflicts of interest of a study. It also mandates the right to withdraw. However, meeting these standards in biobanking is problematic for several reasons:⁵

• Firstly, informed consent focuses only on individuals, neglecting the potential impact on genetically related individuals. Genetic information about one person can reveal details about family members, posing ethical concerns regarding the disclosure and use of such information
• Secondly, the future-oriented nature of biobanks means the specific details of future research are unknown at the time of consent, making fully informed consent impossible. Biobanks serve as a resource for multiple future studies, not just a single research project, complicating the consent process
• Thirdly, biobanks are not single research projects but repositories for various future studies, making it impractical to obtain consent for each study. This would require repeatedly contacting donors, which is administratively and logistically burdensome
• Lastly, the right to withdraw is difficult to fully honour in biobanking. While participants can request to withdraw their samples, it may be impossible to trace and destroy all distributed anonymised remnants or remove their data from already conducted analyses⁵

The future of biobanking

Biobanking has progressed through advanced, standardised methods for collecting and storing various samples like blood, tissues, and circulating tumour cells. Maintaining high standards and shared protocols is essential for ensuring sample quality and sustainability. Effective biobank management relies on harmonisation and standardisation, facilitating large-scale, reproducible research. Biobank networks promote resource sharing and collaboration, though economic sustainability remains challenging. Enhanced management and funding strategies, such as partnerships and business models, are necessary. Additionally, future biobanks must focus on data protection, informed consent, and ethical standards to safeguard donor rights and establish consistent global regulations.⁶

This figure illustrates the range of data within a comprehensive digital biobank, highlighting the generation of numerical descriptors such as radiomic features from radiological images, pathomic features from digital pathology images, and molecular features from molecular profiling. The horizontal arrow represents the sample lifecycle, while the vertical arrow depicts the integration of various data domains.⁷

Recent digital technologies have transformed biobanking by integrating electronic records and big data, advancing medical research. The future of biobanks requires balancing benefits with privacy and data security risks. Effective management relies on high standards and shared protocols, while networking enhances collaboration and resource sharing. Economic sustainability is challenging, necessitating better management and funding strategies. Addressing ethical concerns and maintaining public trust through interdisciplinary efforts and standardised procedures are crucial. Increased public involvement and understanding of big data's risks and benefits are also essential.⁸

Biobanking is set to become an essential business and resource for translational research, influenced by increasing demand, regulation, sophistication, and operational expenses. Effective biobanks must supply high-quality, well-annotated biospecimens without substantial cost hikes. Models like the Clinical Breast Care Project, which combines clinical and translational research with biobanking, demonstrate success. Future biobanks will require standardised quality assessment methods and enhanced efficiency in donor enrollment, collection, storage, and distribution. Government and core research program involvement will rise, with generalised biobanks supporting diverse research needs, driven by the genomic revolution and growing demand for human biological materials.⁹

Summary

Biobanks are transforming biomedical research by supplying high-quality biological specimens crucial for studying diseases and advancing personalised medicine. The genomic revolution and growing demand for diverse biological materials are driving biobank expansion, with successful models like the Clinical Breast Care Project demonstrating their efficacy. However, this growth presents ethical challenges concerning privacy, consent, and equitable distribution of benefits.

Ethical frameworks are essential for sustaining biobank research, safeguarding donor rights, ensuring research quality, and maintaining public trust. Addressing issues such as informed consent, data privacy, and the right to withdraw is crucial to manage risks and maximise the societal benefits of biobanks.

Balancing innovation with ethical responsibility requires stakeholders to establish standardised procedures, enhance public engagement, and foster interdisciplinary collaboration. These efforts will enable us to harness biobanks' full potential while upholding ethical standards and public confidence.