2.1.1. Biobanks are critical for cancer research

Human biological specimens have been used for many decades for translational purposes in cancer research, to investigate disease pathogenesis, to test scientific hypotheses, and to assess biomarkers identified in experimental studies. The advent of new technologies opens unprecedented opportunities to assess the status of the human genome and its expression, the complex networks of interactions between biomolecules, and the functional and clinical consequences of their alteration (NCI, 2016).

Therefore, studies on human specimens are also becoming critical for the process of discovering new mechanisms involved in causing cancer or in determining its progression, resistance or response to treatment, and clinical outcome (Riegman et al., 2006a). Biobanks are the foundation of three rapidly expanding domains of biomedical science:

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molecular and genetic epidemiology (aimed at assessing the genetic and environmental basis of cancer causation in the general population as well as in families);

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molecular pathology (aimed at developing molecular-based classification and diagnostic procedures for cancers); and

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pharmacogenomics/pharmacoproteomics (aimed at understanding the correlation between an individual patient’s genotype or phenotype and response to drug treatment).

2.1.2. Biobanks are important for developing personalized medicine and/or precision medicine

With conventional diagnostic methods, risk factors of importance, as well as the opportunity to prevent diseases that may emerge later, are often overlooked when the focus is on the symptoms manifested. Collecting and analysing biological specimens is a necessary procedure for pathology-based diagnosis and to enable patients to benefit from the applications of molecular and genetic cancer research.

Personalized medicine and precision medicine are transforming diagnosis in medicine and are leading towards patient-centred and multifaceted diagnostics (Hall et al., 2011).

Personalized medicine is an emerging practice of medicine that uses an individual’s genetic and environmental profile to guide decisions made about the prevention, diagnosis, and treatment of disease. This concept has been refined and its scope expanded to include the approaches, decisions, and practices in medical facilities, resulting in the new term “precision medicine”.

Precision medicine is defined by the United States National Institutes of Health (NIH) as “an approach to disease treatment and prevention that seeks to maximize effectiveness by taking into account individual variability in genes, environment, and lifestyle” (Precision Medicine Initiative Working Group, 2015).In precision medicine, genomic and epigenomic analyses with associated data can be used to define individual patterns of disease and susceptibility. Performing molecular-based assessments may become a systematic requirement at different stages of patient follow-up, potentially leading to better individual prevention, diagnosis, prognosis, treatment, and monitoring.

2.1.3. Biobanks have an impact on biotechnological and medical innovation

In the continuum from laboratory discovery to medical application, biobanks play a key role in life science research and development (R&D). Progress in medicine depends on innovation, development, and the translation of laboratory findings into clinical practice. Access to human biological specimens and associated data is often a prerequisite for such R&D advances.

Therefore, the development of high-quality biobanks with innovative research platforms has accelerated and facilitated this translational process. This is due mainly to technological advances and reductions in the cost of information technology (IT), used for data storage and for the assembly, evaluation, and analysis of large numbers of samples, as well as increases in analytic capabilities and the drastically reduced costs of DNA sequencing, with results available within a shorter time frame. Similar advances in mass spectrometry have drastically lowered the cost and expanded the ability to characterize proteins and the metabolites present in biological samples.

2.1.4. Importance of networking and exchanges between biobanks

Cancer is a burden faced by people across the globe. Occurrence and mortality rates vary in different parts of the world. In addition, studies of many rare forms of cancer are limited by the difficulty of recruiting a sufficient number of cases within any single collection centre, or even within one country.

Networking, or harmonizing, of biobanks can encourage the collection of higher-quality samples and data, enable larger research projects to take place, and reduce duplication of effort (Yuille et al., 2008; Harris et al., 2012). For cancer biobanks, networking can enable the study and classification of rare cancers; a cancer type is considered rare if fewer than 5 cases are diagnosed in a population of 10 000, and rare cancers make up at least 20% of new cancer cases (ESMO, 2010; van Ommen et al., 2015; Mayrhofer et al., 2016).

Networking implies a multidirectional flow of information, expertise, and biological materials between cancer centres and research institutions and requires the adoption of common technical standards for specimen collection, storage, and annotation, and for data collection and management. Biobanks have an important role in facilitating such exchanges and in providing logistics and infrastructure for multicentre research projects involving cancer centres, academic medical centres, and diagnostic and health care facilities. Biobank networks involved in the collection, processing, storage, and dissemination of biological specimens can range from small operations with single projects in research or university laboratories to large operations in hospital, academic, or commercial biobanks. The operational model and governance of networks depend on their focus and mission. One such model is the federated model, where the biobanks maintain their samples and contribute to a common network project when necessary. Another model is the project-based model, where the biobanks collect samples for a specific project (Vaught et al., 2009).

Several factors can contribute to the success of a biobank network. They include:

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well-defined goals, effective coordination, and funding mechanisms;

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efficient communication between the relevant medical disciplines and the global scientific community;

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standard operating procedures (SOPs), compatible informatics systems, and harmonized informed consent and material transfer policies and procedures; and

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tools to enable de-identified, up-to-date follow-up and retrieval of information and clinical data on participants.

These tools are key to the success of biobank networks.

The European Prospective Investigation into Cancer and Nutrition (EPIC) study, a population-based study that was initiated in the 1990s and coordinated by the International Agency for Research on Cancer (IARC), is an example of an effective networked project. The project involved partners from 10 European countries and 23 EPIC centres, and each centre collected biospecimens and data. Blood samples and associated data, including lifestyle and dietary information, were collected at baseline. Blood samples from participants in eight out of the 10 European countries are kept in the IARC central biobank. For two Scandinavian countries, blood samples are kept locally.

Although EPIC has a central biobank for the baseline samples, the tissue samples from individuals who develop cancer are kept at the centre, and this forms the EPIC federated biobank.

The EPIC study has provided opportunities for researchers to investigate lifestyle and cause of death (Bergmann et al., 2013) as well as dietary intake in relation to mortality among people who develop different types of cancer, such as colorectal cancer (Aleksandrova et al., 2014) and prostate cancer (Rohrmann et al., 2013), and other diseases, such as ischaemic heart disease (Crowe et al., 2012).

2.4.1. Institutional commitment

Many factors contribute to the decision to establish and run a biobank. In practice, the process often starts with the willingness of medical doctors and scientists to develop a resource useful for diagnosis, prognosis, and research purposes. However, the establishment of a biobank must not rely only on individual action but also requires a clear commitment by the host institution, which also needs to ensure that collections are developed within appropriate legal, ethical, clinical, scientific, and technical guidelines, to provide historical continuity in specimen management and record keeping. Finally, the biobank should ensure that the stored materials can be made available for research.

The purpose of the biobank must be clearly formulated and documented. In case of loss of funding or other adverse events that may prevent the institution from maintaining its commitment, it is the responsibility of the institution to take the necessary steps, depending on the applicable legal/ethical requirements. There may be an obligation to destroy the samples or to transfer the collected specimens and data to another institution that will take over the commitment for the long-term maintenance of the resources. There may be specific obligations related to such a transfer.

2.4.2. Ethical, legal, and social issues (ELSI) and governance

ELSI considers local, national, and international cultural, legal, social, and ethical norms. For example, the EU Data Protection Directive states that under EU law, personal data can be gathered legally only under strict conditions, for a legitimate purpose (European Commission, 1995). Furthermore, people or organizations that collect and manage personal information must protect it from misuse and must respect certain rights of the data owners, which are guaranteed by EU law.

However, there are conflicting data protection rules in different countries, which need to be observed during international exchanges. Therefore, common EU rules have been established to ensure that personal data have a high standard of protection everywhere in the EU. The EU Data Protection Directive also provides specific rules for the transfer of personal data outside the EU, to ensure the best possible protection of data when they are exported abroad.

ELSI and governance recommendations relating to governance structures, informed consent, data protection, return of results and incidental findings, and data and sample sharing are presented in Section 3.1.

An important governance issue to highlight when establishing and maintaining biobanks relates to public engagement programmes and the establishment of clear channels of communication with partners and stakeholders. Therefore, transparency in procedures and operations is critical, and clear descriptions of the roles and responsibilities of personnel should be communicated to partners and stakeholders. Given that participation is voluntary and that most biobanks operate on a non-economic basis, biobanks need public trust and support. It has become common practice for large-scale population biobanks to engage in consultation with the public and other stakeholders before the biobank is established (UK Biobank Ethics and Governance Council, 2015, 2016). Methods of communication could include, for example, consultation with community representatives, focus group meetings, workshops, interviews, public meetings, polls, and surveys. Public consultation is particularly important when ethnic or cultural minorities are approached to participate in biobank collections. Section 3.1 provides further information on transparency and communication with key stakeholders, and Section 3.1.2.5 describes community engagement in relation to the consent process.

2.4.3. Biobank management and staffing

Biobanks should be adequately staffed, and the personnel selected for these tasks must be well qualified and have an appropriate level of specialized training. The biobank should be placed under the overall supervision of a biobank manager with sufficient training, experience, and seniority to fulfil the scope of the activities of the biobank. The manager is responsible for operations, including compliance with appropriate regulations, and has a critical role in receiving, processing, and responding to requests for access to stored specimens. The manager can act as a technical advisor to the access committee during the review of access applications.

Running a biobank requires dedicated staff members for specimen processing and storage and for data management. The job description, tasks, and reporting system of all supervisory and technical staff members must be documented. This is of particular importance in instances where biobank staff members also perform other tasks within the institution (e.g. pathology service or service activities in molecular biology). Staff members must have adequate educational backgrounds, experience, and training to ensure that assigned tasks are performed in accordance with the biobank’s established procedures. Updated training should be conducted on a periodic basis for personnel, in accordance with applicable regulations and roles within the biobank.

Other personnel who are not necessarily staff members of biobanks but should be aware of the purpose and goals of obtaining high-quality bioresources are clinicians, researchers, technicians, nurses, surgeons, pathologists, and anaesthetists. The involvement of a pathologist in this process is crucial to ensure that patient care is not compromised (NCI, 2016).