Biobank-based Research Research Articles

GBA/GBN-position on the feedback of incidental findings in biobank-based research: consensus-based workflow for hospital-based biobanks

Incidental research findings pose a considerable challenge to hospital-based research biobanks since they are acting as intermediaries between healthcare and research. In a joint action the centralized biobank ibdw (Interdisciplinary Bank of Biomaterials and Data Wuerzburg) together with local authorities drafted a coherent concept to manage incidental research findings in full compliance with relevant ethical and data privacy regulations. The concept was developed and elaborated in close collaboration with the German Biobank Alliance (GBA). Comprehensive documentation of all steps guarantees the traceability of the process. By a mandatory assessment of the findings prior to re-identification of the individual concerned, unnecessary measures can be avoided. The individual’s “right not to know” is respected according to the stipulations of the informed consent. As a general principle any communication with the individual occurs exclusively through the hospital and by competent physicians with appropriate knowledge and communication skills. We propose this scheme as a blueprint for reporting workflows for incidental research findings at hospital-based biobanks.

Biobank Participants' Attitudes toward Requiring Understanding for Biobank Consent.

Biobank participants often do not understand the information they are provided during the informed consent process. Ethicists and other stakeholders have disagreed, however, on the appropriate response to these failures in understanding. This paper describes an attempt to address this issue by conducting knowledge tests with 22 recent biobank enrollees, followed by in-depth, semistructured interviews about the goal of understanding in biobank consent. The interviews revealed that while biobank enrollees thought the information on the knowledge test was important, they did not think that performance on the test should affect whether individuals are permitted to enroll in a biobank. Three main themes emerged from the interviews: helping others by contributing to research is more important than understanding consent forms, less understanding is required because biobank-based research is low risk, and only a small amount of information in the consent form is really essential. These perspectives should be considered in discussing the ethics and governance of biobank consent processes.

Adolescent Assent and Reconsent for Biobanking: Recent Developments and Emerging Ethical Issues.

Research biobanks that enroll minors face important practical, ethical, and regulatory challenges in reconsenting participants when they reach the age of 18. Federal regulations governing research in the United States provide minimal guidance and allow for a range of practices, including waiving the requirement to obtain reconsent. Some commentators have argued that institutional review boards should indeed grant such waivers, given the low risks of biobank-based research and the impracticality of contacting all participants when they turn 18. There is also significant ethical debate about the age at which adolescents can make authentic, autonomous decisions regarding their research participation. This paper reviews these issues in detail, describes the current state of the ethical discussion, and outlines evidence-based policies for enrolling minors into research biobanks.

The emerging landscape of health research based on biobanks linked to electronic health records: Existing resources, statistical challenges, and potential opportunities.

Biobanks linked to electronic health records provide rich resources for health-related research. With improvements in administrative and informatics infrastructure, the availability and utility of data from biobanks have dramatically increased. In this paper, we first aim to characterize the current landscape of available biobanks and to describe specific biobanks, including their place of origin, size, and data types. The development and accessibility of large-scale biorepositories provide the opportunity to accelerate agnostic searches, expedite discoveries, and conduct hypothesis-generating studies of disease-treatment, disease-exposure, and disease-gene associations. Rather than designing and implementing a single study focused on a few targeted hypotheses, researchers can potentially use biobanks' existing resources to answer an expanded selection of exploratory questions as quickly as they can analyze them. However, there are many obvious and subtle challenges with the design and analysis of biobank-based studies. Our second aim is to discuss statistical issues related to biobank research such as study design, sampling strategy, phenotype identification, and missing data. We focus our discussion on biobanks that are linked to electronic health records. Some of the analytic issues are illustrated using data from the Michigan Genomics Initiative and UK Biobank, two biobanks with two different recruitment mechanisms. We summarize the current body of literature for addressing these challenges and discuss some standing open problems. This work complements and extends recent reviews about biobank-based research and serves as a resource catalog with analytical and practical guidance for statisticians, epidemiologists, and other medical researchers pursuing research using biobanks.

Data in question: A survey of European biobank professionals on ethical, legal and societal challenges of biobank research.

Biobanks have evolved, and their governance procedures have undergone important transformations. Our paper examines this issue by focusing on the perspective of the professionals working in management or scientific roles in research-based biobanks, who have an important impact on shaping these transformations. In particular, it highlights that recent advances in molecular medicine and genomic research have raised a range of ethical, legal and societal implications (ELSI) related to biobank-based research, impacting directly on regulations and local practices of informed consent (IC), private-public partnerships (PPPs), and engagement of participants. In our study, we investigate the ways that these concerns influence biobanking practices and assess the level of satisfaction of the cross-national biobanking research communities with the ELSI related procedures that are currently in place. We conducted an online survey among biobankers and researchers to investigate secondary use of data, informing and/or re-contacting participants, sharing of data with third parties from industry, participant engagement, and collaboration with industrial partners. Findings highlight the need for a more inclusive and transparent biobanking practice where biobanks are seen in a more active role in providing information and communicating with participants; the need to improve the current IC procedures and the role of biobanks in sharing of samples and data with industry partners and different countries, and the need for practical, tangible and hands-on ethical and legal guidance.

Linking pre-existing biorepositories for medical research: the PopGen 2.0 Network

The significance of human biorepositories for modern medical research, particularly for comprehensive population-based genetic analyses, is constantly growing. While large and centralized institutions are usually considered best suited to meet the increasing demand for high-quality “biobanks,” most medical research institutions still host rather heterogeneous and fragmented biobanking activities, undertaken by clinical departments with oftentimes rather different scientific scope. Undoubtedly, most clinicians and medical researchers would appreciate infrastructural support in terms of the storage and handling of their biosamples, but they are also likely to expect access to their samples avoiding extensive formal requirements. We report on the establishment of the PopGen 2.0 Network (P2N), an overarching alliance of initially seven biobanks from Northern Germany which adopted a joint but lean governance structure and use-and-access policy for their samples and data. In addition, the members of P2N have pursued an intense collaboration on ethical, legal and social issues and maintain a common IT infrastructure. The implementation of P2N has substantially improved the prospects of biobank-based research at the participating institutions. The network may thus serve as a role model for similar initiatives geared at linking pre-existing biorepositories for the benefit of research quality, efficiency, and transparency.

Transparency of Biobank Access in Canada: An Assessment of Industry Access and the Availability of Information on Access Policies and Resulting Research.

A key issue impacting public trust in biobanks is how these resources are utilized, including who is given access to biobank data and samples. To assess the conditions under which researchers are given access to Canadian biobanks, we reviewed websites and contacted Canadian biobanks to determine the availability of information on access policies and procedures; research resulting from access biobank data and samples; and conditions on private industry access to biobanks. We also conducted expert interviews with key Canadian stakeholders ( n = 11) to obtain their perspectives on biobank transparency and access policies. Among 21 Canadian biobanks, there was wide variation in the access information made publicly available, and the majority of these allowed access by industry applicants. Biobanks should be governed by the principles of transparency, accountability, and accessibility, and attention must be given to the conditions around the commercialization of biobank-based research.

Reverse Discrimination For Psychiatric Genetic Studies In Population-Based Biobanks

The results of genome-based research are increasingly becoming part of planning for care. The question remains whether the results of this research are representative, since it often excludes people with psychiatric conditions. Despite best intentions, in our desire to protect the vulnerable, we risk creating a situation where they are discriminated against in a double sense: non-inclusion to protect them from the risks of research leads to biased results, that in turn could lead to a lower standard of care in the future.Large-scale population biobanking projects link genetic data with the information participants provide regarding their health status, lifestyle (including alcohol consumption, smoking, etc.) and known environmental factors. The collection of samples and data constitutes the basis for future research projects on two levels. First, some diseases or phenotypes are collected with great precision during the recruitment for existing research protocols. Second, follow up projects are planned based on the analysis of data collected from questionnaires and analysis of biological specimens on the basis of identified phenotypes. Often, these data make it possible to assess and identify diseases ranging from diabetes to depression. Once a condition is identified, researchers need to collect further phenotypes or dig deeper into a recognized pattern.Commonly, participants in population cohorts are recruited for studies of common diseases. For example, there is a large number of cohorts focused on cardiovascular and metabolic conditions. Recruitment of population cohorts often excludes incapacitated individuals and people who, for several reasons, cannot provide a full informed consent. This means minors are often excluded from population cohorts and (sometimes) instead collected separately in biobanks for children. Against this background, it becomes obvious that there is a problem of representativeness for these categories of people that constitute an already known first bias in the collections. The reason for this is often administrative: handling issues of legal representatives may in fact prove to be too complicated on a population level.There is, however, a second layer of possible bias that arises in the planning of follow up research projects. Planning to re-call people with severe depression, addiction or initial stages of degenerative conditions (dementia, etc.), often entails several layers of ethical and logistical issues that do not arise in re-contact of participants with suspected diabetes or leukemia.If we use depression as an example, this problem becomes apparent. When people suspected to have depression are invited to participate in follow up research with a physician, they are asked to fill out questionnaires used to diagnose depression and identify suicide risks. Costly follow up visits with specialists are needed if a research participant discloses that he or she is contemplating suicide. For people with early stage dementia, the problem is more related to information and ability to pay attention, and the difficulties associated with explaining and understanding large amounts of complex information.This presentation will provide an overview of possible discriminatory patterns that jeopardize the possibility for psychiatric patients (in a very broad sense) to benefit from the potential of biobank-based research, with some case examples.

Biobank-based research on digestive peritoneal carcinomatosis (the BIG-RENAPE Biobank)

Access to good quality biological samples is a prerequisite for highlevel translational research. The BIG-RENAPE Biobank has been established by the French hyperthermic intraperitoneal chemotherapy centers involved in the management of peritoneal surface malignancies. The Biobank is a core facility aiming to support researchers who conduct studies with sample collections, both within and outside the Big- RENAPE Network. The Biobank is certified according to NFS 96-900 and has been launched in February 2016 as a service of processing, storage and transfer of high quality biological (plasma, serum, buffy coat) and tissue (formalin-fixed-paraffin-embedded) samples from patients with digestive peritoneal carcinomatosis. Biospecimens are collected at each stage of diagnostic and therapeutic care. The patient and his derivates are anonymized and registered in a web database reporting disease status, treatments, surgical procedures, pathological diagnosis, quality of life’s assessment and long term follow-up. All participants have given their informed consent before any sample. The Biobank was approved by the local Ethical Committee, based on the assessed compliance to French regulatory rules. The Biobank is located in the Centre Hospitalier Lyon (SudBioTech), which is known to be an expert center in the management of the peritoneal carcinomatosis. Research projects that require material stored in the Biobank are submitted by specific form and evaluated by the BIG-RENAPE Scientific Committee. A material transfer agreement is agreed with the recipient before samples are allowed to be sent from the Biobank.

Mexican Regulation of Biobanks.

Biobank-based research in Mexico is mostly governed by research and data protection laws. There is no direct mention of biobanks in either statutory or regulatory law besides a requirement that the Federal Ministry of Health and a Mexican institution devoted to scientific research approve the transfer of biological materials outside of Mexico for population genetics research purposes. Such requirements are the basis of Genomic Sovereignty in Mexico, but such requirements have not prevented international collaboration. In addition, Mexican law singles out genetic research in informed consent provisions, but it does not specify whether all biobank-based research is genetic research. In order to facilitate international collaboration on biobank-based research, Mexico should directly address biobanking in its laws, building on the research framework and data protection framework already in place.

Biobanking and Privacy in India.

Biobank-based research is not specifically addressed in Indian statutory law and therefore Indian Council for Medical Research guidelines are the primary regulators of biobank research in India. The guidelines allow for broad consent and for any level of identification of specimens. Although privacy is a fundamental right under the Indian Constitution, courts have limited this right when it conflicts with other rights or with the public interest. Furthermore, there is no established privacy test or actionable privacy right in the common law of India. In order to facilitate biobank-based research, both of these lacunae should be addressed by statutory law specifically addressing biobanking and more directly addressing the accompanying privacy concerns. A biobank-specific law should be written with international guidelines in mind, but harmonization with other laws should not be attempted until after India has created a law addressing biobank research within the unique legal and cultural environment of India.

Biobanking Research and Privacy Laws in the United States.

Privacy is protected in biobank-based research in the US primarily by the Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule and the Federal Policy for Protection of Human Subjects (Common Rule). Neither rule, however, was created to function in the unique context of biobank research, and therefore neither applies to all biobank-based research. Not only is it challenging to determine when the HIPAA Privacy Rule or the Common Rule apply, but these laws apply different standards to protect privacy. In addition, many other federal and state laws may be applicable to a particular biobank, researcher, or project. US law also does not directly address international sharing of data or specimens outside of the EU-US Safe Harbor Agreement, which only applies to receipt of data by certain US entities from EU countries, and is in the process of revision. Although new rules would help clarify privacy protections in biobanking, any implemented changes should be studied to determine the sufficiency of the protections as well as its ability to facilitate or hinder international collaborations.

Biobank Report: United Kingdom.

The United Kingdom is a leader in genomics research, and the presence of numerous types of biobanks and the linking of health data and research within the UK evidences the importance of biobank-based research in the UK. There is no biobank-specific law in the UK and research on biobank materials is governed by a confusing set of statutory law, common law, regulations, and guidance documents. Several layers of applicable law, from European to local, further complicate an understanding of privacy protections. Finally, biobanks frequently contain data in addition to the samples; the legal framework in the UK generally differentiates between data and samples and the form of the data affects the applicability of legal provisions. Biobanks must be licensed by the Human Tissue Authority; certain projects must be reviewed by Research Ethics Committees, and all projects are encouraged to be reviewed by them. Data Access Committees in biobanks are also common in the UK. While this confusing array of legal provisions leaves privacy protections in biobanking somewhat unclear, changes at the EU level may contribute to harmonization of approaches to privacy.

Biobanking strategies and regulative approaches in the EU: recent perspectives

Biobanks, ie, systematic collections of human biological materials and associated clinical and lifestyle data, provide an indispensable infrastructure for modern research. Although biobank research takes place on a global scale, there is no internationally binding framework for its ethical and legal regulation yet. A better understanding of existing regulative approaches is an important prerequisite for its ethical and legal harmonization and, thus, for improving the interoperability of biobank-based research in the future. This review focuses on biobanking strategies, regulative approaches, and recent developments in Europe. Specifically, we discuss selected ethical and legal issues in research biobanking in the European context by looking at population biobanks, new participation models, the cross-border sharing of samples, the participation of minors, the handling of incidental health findings, whole genome sequencing, and commercialization. We also provide an overview of regulations on biobank research in the EU and member states and highlight commonalities and differences. Although several common trends can be identified across Europe, we acknowledge the importance of national research traditions that cannot easily be set aside. Thus, harmonization, rather than a complete unification, of approach seems to be the most realistic vision for future biobank research in Europe.

Biobanking from the patient perspective.

Plain English summaryBiobanks are collections of donations of biological material (DNA, cells, tissue etc.) and related data which are very valuable for research into human diseases. A variety of biobanks exist for example within hospitals, research institutes, pharmaceutical companies and patient organisations. The role of patients in biobanking is changing from being seen simply as donors, to actual collaborators in the design, development and the running of biobanks. In this article, we provide a number of examples of patients acting as partners at the heart of biobanking, where their voice and perspective is being seen and used as a valuable resource for the biobank. Our aim is that these examples can be used by those who work with patients in biobank-based research, to design future strategies for patient and public involvement in all biobanks.Biobanks and biobanking research plays an increasingly important role in healthcare research and delivery as health systems become more patient-centred and medicine becomes more personalised. There is also growing acceptance and appreciation of the value that patients, patient advocacy organisations and the public can bring as stakeholders in biobanking and more generally in research. Therefore, the importance of active, early and sustained engagement and involvement of patient and public representatives in biobanks will become increasingly relevant.Organising and facilitating patient and public involvement in biobanking takes considerable time and effort for all stakeholders involved. Therefore, for any biobank operator considering involving patients and the public in their biobanking activities, consideration of best practices, current guidance, ethical issues and evaluation of involvement will be important.In this article, we demonstrate that patients are much more than donors to biobanks—they are collaborators at the heart of biobanking with an important voice to identify perspective, which can be an extremely valuable resource for all biobanks to utilise. The case studies herein provide examples of good practice of patient involvement in biobanking as well as outcomes from these practices, and lessons learned. Our aim is to provide useful insights from these efforts and potential future strategies for the multiple stakeholders that work with patients and the public involved in biobank-based research.

Paediatric Biobanks: Opinions, Feelings and Attitudes of Parents towards the Specimen Donation of Their Sick Children to a Hypothetical Biobank

Over the last years, the storing of biological materials from children for research purposes in biobanks has become the subject of an intense debate in the scientific and ethical communities on a global level. Paediatric biobanks are an important resource for the development of translational research. At the same time, paediatric biobanks are ethically ‘sensitive' due to the unique issues they raise. In this study, we explore opinions, feelings and attitudes of parents towards the specimen donation of their sick children to a hypothetical biobank. According to a qualitative methodology based on focus groups, we analysed parents' views, perceptions and inclinations towards typical ethical, legal and social aspects of paediatric biobanks such as proxy consent, minor assent, privacy protection and return of results. Our study confirms the need for specific policies dedicated to paediatric biobanks by highlighting how the nature of the disease affecting children may influence the parents' opinions and decisions towards the enrolment of their children in biobank-based research studies.

Genomic Databases and Biobanks in Denmark.

Biobanking in Denmark is regulated via patients' rights laws, data protection laws, and research ethics reviews. Danish law recognizes tissue samples as personal data for purposes of the data protection laws, meaning research with tissue samples may be subject to research ethics review, data protection laws, and patients' rights requirements depending on the circumstances of collection. However, research on information gained through whole genome sequencing is subject only to data protection laws, despite the similarity in the nature of the information. The regulatory framework treats biobank samples collected from patients differently than samples collected from research participants, particularly with respect to autonomy. Importantly, biobanks established for future unspecified research are not subject to research ethics review. Biobank-based research has gained more prominence on the national level recently, and the potential for a less fragmented and more consistent regulatory approach may emerge from this attention.

An Update on the Italian Twin Register: Advances in Cohort Recruitment, Project Building and Network Development

The Italian Twin Register has been in place for more than 10 years. Since its establishment, it has been focusing, on the one hand, on a continuous update of the existing information, and on the other hand, on new phenotypes and sample collection. Demographic data on about 140,000 twins have been updated using the municipality registries. The Italian Twin Register has been carrying out several new studies during the last few years. A birth cohort of twins, Multiple Births Cohort Study, has been started and the enrollment is ongoing. For this cohort, data on pregnancy and birth are collected, and periodical follow-ups are made. DNA is being collected for the twins and their parents. In the area of behavioral genetics, most efforts have been directed to psychological well being assessed with self-reported tools. Research on age-related traits continues with studies on arteriosclerosis development, early biomarkers in mild cognitive impairment, and the relation between lifestyle habits and mutagen sensitivity. The Italian Twin Register biobanking has grown in its size and in its know-how in terms of both technical issues and ethical procedures implementation. Furthermore, attitudes toward biobank-based research, together with willingness and motivation for donation, are being investigated. A valuable key resource for the Italian Twin Register is the possibility of linking twin data with disease registries. This approach has been yielding several important results, such as the recent study on the heritability of type 1 diabetes.

Incidental findings of therapeutic misconception in biobank-based research

PurposeThis article explores expressions of therapeutic misconception (TM) in a deliberative-engagement project focused on the return of aggregate and individual genetic results from biobank-based research. MethodsWe enrolled 45 self-described African Americans in a deliberative-engagement project to explore their attitudes regarding the return of results from biobank-based research. Four groups of individuals participated in four sessions over 2 days that included both educational and focus-group components. ResultsTM was expressed by individuals from both clinics on each day that they met. Three main typological categories of TM were noted: (i) the reasons for consenting to participate in a biobank, (ii) the conflation of research with clinical care, and (iii) mistrust about the meaning of biomedical research findings. ConclusionAlthough trust may explain why some research participants express TM, it was also fueled by mistrust (e.g., a disbelief that a condition described as untreatable was truly untreatable). We also found that TM is not due solely to research participants’ misunderstandings but is a bidirectional phenomenon that can be exacerbated by researchers. This finding raises questions about how to engage prospective research participants in the long-term goals of biobank-based research without unintentionally overstating possible short-term clinical benefits.Genet Med 2012:14(6):611–615

Scientific scope of integrating research activities in the Janus Serum Bank and Cancer Registry of Norway

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