Eur opean Rev iew for Med ical and Pharmacol ogical Sci ences 2015; 19: 4182-4186 Ethical governance in biobanks linked to electronic health records L. CAENAZZO 1, P. TOZZO 1, A. BOROVECKI 2 Department of Molecular Medicine, Clinical Bioethics Laboratory, University of Padova, Padova, Italy Department of Social Medicine and Organisation of Health Care, University of Zagreb, Zagreb, Croatia Abstract. – In the last years an alternative to legally binding instruments or by general regula - traditional research projects conducted with pa - tory texts. Over the years, new questions, diffi - tients has emerged: it is represented by the pair - culties and solutions have appeared. The result is ing of different type of disease biobanks speci - mens with Electronic Health Records (EHRs). that there is lack of clarity and uniformity in Even if informed consent remains one of the biobank regulation and consideration of this con - most contested issues of biobank policy, other fusing literature and procedures may be difficult ethical challenges still require careful attention, to understand . given that additional issues are related to the Nonetheless, it is reductive, on first view, to use of EHRs. try to capture in a single term a reality so varied: In this new way of doing research harmoniza - small and vast collections, managed by private tion of governance is essential in practice, with the aim to make the most use of resources at entities and public bodies, containing tumors, tis - our disposal, and sharing of samples and data sue, blood, plasma and other forms of DNA. In among researchers under common policies reg - fact, the term biobank is not yet entirely univer - ulating the distribution and the use. sal. A biobank-specific Ethics Committee could be Some prefer to talk about “biolibraries ”, oth - seen as a new and type of Ethics Committee, ers, such as the French legislature, of “biological that we suggest to be applied to each biobank, with possible different functions. sample collections ”, others still prefer to talk In particular, considering the possible use of about “biological resource centers ” (BRCs) or electronic health record data linked to biological “specimen banks ”. Other designations include specimens in biobanking research, this specific “genetic databases ” or “human genetic research Ethics Committee could draft best practice and databases ” (used by the OECD), “virtual ethical guidelines for the utilisation of the EHRs biobanks ” (the Human Genome Organisation and as a tool for genetic research, addressing con - the Institute for Genomic Research), “bioreposi - cerns on accessibility, return of results and pri - vacy and help to educate patients and health - tories ” (OECD, International Society for Biologi - care providers. cal and Environmental Repositories), “tissue banks ”, “ gene banks ”, and “registries ”. These ex - Key Words: amples show just how varied the terminology is Ethics Committee, Biobanks, Clinical research gov - and how unbridled the semantic imagination of ernance, HERs. those involved 1. However in general terms, a biobank has the following characteristics and elements: an infra - Introduction structure (that is, a place and equipment) man - aged by a public or private body, the accumula - Biobanking, the organised collection of bio - tion in an organized fashion and over a period of logical samples and associated data, ranges from time of biological samples (cells, tissue, urine, small collections of samples in academic or hos - genes, or DNA or RNA fragments) and data pital settings to large-scale national repositories. (clinical information about patients and their Different approaches to regulations of families, or even populations, genealogical or bi - biobanks have appeared both at the national and ological data, lifestyle information, etc.), for the international levels, sometimes through specific purpose of medical research. 4182 Corresponding Author: Luciana Caenazzo, MD; e-mail: [email protected] Ethical governance in biobanks linked to electronic health records A biobank is composed of biological speci - tions, new research in both public and private mens and of the information related to the speci - contexts, and new ethical challenges in biobank - mens and their sources. Individual or patient in - ing 7,8 . formation is part of the biobank and has the same Even if informed consent remains one of the relevance as the tissue sample and for this reason most contested issues of biobank policy 9, other eth - collection of information should be accurate and ical challenges still require careful attention, given complete. that additional issues are related to the use of In the last years an alternative to traditional re - EHRs: these include the protection of vulnerable search projects conducted with patients has subjects, the safeguarding of privacy, the commu - emerged: it is represented by the pairing of dif - nication of research results to donors, the conflicts ferent type of disease biobanks specimens with over patenting, the access, the need for open sci - electronic medical/health records (EMRs/EHRs), ence, the rights of donors to retain a property claim for example the Electronic Medical Records and or control over their samples and data. In particular Genomics (eMERGE) network 2, the Vanderbilt it is necessary to pay attention to the management Electronic Systems for Pharmacogeomic Assess - of healthcare information collected from patients in ment (VESPA) Project 3 and the Estonian different research projects 10,11 that can overwhelm Biobank, that was the first country to implement the original purpose of the research and the related a nationwide electronic health records system for informed consent . Furthermore, the ethical policy all citizens 4,5 . In these models of research , a has to take in consideration the fact that some pa - healthcare facility collects biological samples of tient’s EHR data are collected for healthcare pur - patients (as indicated above) for research and poses, without specific informed consent. stores them in a biobank, maintaining a linkage Biobanking enables a new way of doing re - between the sample and the patient’s EHR data, search: research projects are now frequently that constitute the primary source of phenotypic global, involving international teams, cross-bor - information. der networks of expertise, members of interna - Incorporating health information from partici - tional scientific societies belonging to different pant in Biobanking research aids in correlating institutions around the world, which pool and phenotypic information with genetic data and en - share samples and data ; this is crucial in order to vironmental data. make investigations more robust, more targeted, The advantages of collecting EHRs related to and more economical . The use of EHRs related genomic information stored in biobanks are cost- to biobanks may enable this new way of doing effctiveness and the potential to reuse genetic research, and it could benefit from the creation of and phenotypic information collected during a teams for phenotyping and genetic data analysis, patient’s lifespan, beyond the original study. This facilitating communication and spread of exper - is particularly true for dense genetic data such as tise among research teams. thosegenerated through genome-wide association In this new way of doing research harmoniza - studies or large-scale sequencing data 6. tion of governance is essential in practice, with the aim to make the most use of resources at our Biobanking Governance disposal , and the sharing of samples and data Although biobanking is not new, what distin - among researchers under common policies regu - guishes the present from the past is that the gen - lating the distribution and the use. Furthermore eral scientific context has changed, and the scale governance harmonization among different of biobanking activities, both in terms of the biobanks in different countries could ensure an quantity of samples and data, as well as the range equal protection of autonomy, dignity and funda - of disease areas and institutions now involved in mental rights of patients and research partici - biobanking have increased considerably, espe - pants, helping researchers in their activity and cially with the emergence of EHRs-linked ensuring a flexible framework that should not be biobanks . The other significant change is that an obstacle for the technical progress of the these collections are being configured so that biobank, and offering to all communities the op - they can be used as a resource for the whole sci - portunity to benefit from the results obtained. entific community. Governance harmonization could guarantee ac - In these last years the importance of biobanks cess controls and security measures in order to is testified by the great increase, in the scientific avoid breach of partecipants’ privacy and the risk literature, of papers that consider new applica - of stigmatization of specific groups. 4183 L. Caenazzo, P. Tozzo, A. Borovecki For these reasons biobank harmonization has development of a fair and equitable system of ac - become a key issue in the field of biobanking, cess for researchers wishing to use the biobanks both in terms of regulation and governance, with and the benefits of shared results 7. respect to peculiar challenges of EHRs-related In this context, the development of ethical biobank . guidelines and a systematic involvement of Ethics In response to biobanks challenges, different Committees