REVIEW Open Access

Biobanks in the era of personalizedmedicine: objectives, challenges, andinnovationJudita Kinkorová1,2

Abstract

Biobanks are an important compound of personalized medicine and strongly support the scientific progress instratification of population and biomarker discovery and validation due to progress in personalized medicine.Biobanks are an essential tool for new drug discoveries and drug development. Biobanks play an importantrole in the whole process of patient prevention and prediction, follow-up, and therapy monitoring andoptimalization. Biobanks have the specificity in that they cover multidisciplinary approach to the humanhealth combining biological and medical approaches, as well as informative bioinformatics technologies,computationing, and modeling. The importance of biobanks has during the last decade increased in varietyand capacity from small collections of samples to large-scale national or international repositories. Collectedsamples are population-based, disease-specific or rare diseases originating from a diverse profile of individuals.There are various purposes of biobanks, such as diagnostics, pharmacology, or research. Biobanks involve,store, and operate with specific personal information, and as a consequence, such a diversity of biobanking isassociated with a broad spectrum of ethical and legal issues. Biobanks are an international phenomenonbecause any single country, state, or society at the moment is not able to cover all issues involving thewhole biobank problematic. Biobanks have an enormous innovative potential in the whole process ofbiomedical research in the twenty-first century.

Keywords: Biobanks, Types, History, Definitions, Role of biobanks, Ethical and legal issues, Predictivepreventive personalized medicine

BackgroundA new era of medical research brought in the last decadea lot of new discoveries, new knowledge, and informa-tion and is, by many authors, called the era of personal-ized medicine. The term covers not only new knowledgeand approaches but also new paradigms of currentmedicine from curing to prevention. It also means acombination of new multidisciplinary approaches to bet-ter understand health and diseases. A new era of medicalresearch brings new questions that have to be answered.Personalized medicine is as a new approach to the pa-

tient built on several pillars: -omics methods (proteomics,

metabolomics, and epigenomics), systems medicine, bio-informatics, and biobanks, and the implementation ofpersonalized medicine requires a confluence of multiplyfactors (Fig. 1) [1].Biobanks are on the list of “10 Ideas Changing the

World Right Now,” published in Time 2009 [2]. Inthis article, the biobank is a safe house for tissuesamples, tumor cells, DNA and, yes, even blood—thatwould be used for research into new treatments fordiseases (Fig. 2) [2].General biobanks are much more flexible as they

can support a variety of studies, including cross-sectional studies of genotype-phenotype correlations,case control studies using a biobank for cases and/orcontrols, and cohort studies using baseline andfollow-up data in a biobank to link genetic variationwith health outcomes [3].

Correspondence: KINKOROVAJ@fnplzen.cz1Faculty Hospital in Pilsen, Edvarda Benese 1128/13, 305 99 Plzen, CzechRepublic2Medical Faculty Charles University in Pilsen, Lidicka 1, 301 00 Plzen, CzechRepublic

© 2016 Kinkorová. Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, andreproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link tothe Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver(http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Kinkorová The EPMA Journal (2016) 7:4 DOI 10.1186/s13167-016-0053-7

DefinitionsBiobanks were defined by many authors, institutions, so-cieties, and organizations in many different ways duringthe last decade.The big international societies like OECD, ISBER,

European Commission, and BBMRI-ERIC have expressedtheir definitions.The Organisation for Economic Co-Operation and

Development (OECD) defines a biobank as a collectionof biological material and the associated data and informa-tion stored in an organized system, for a population or alarge subset of a population [4].OECD in Recommendation on Human Biobanks and

Genetic Research Databases (HBGRD) [5] provides guid-ance for the establishment, governance, management,operation, access, use, and discontinuation of humanbiobanks and genetic research databases, which are

structured resources that can be use for the purpose ofgenetic research and which include:

� Human biological materials and/or informationgenerated from the analysis of the same;

� Extends it with associated information.

International Society for Biological and EnvironmentalRepositories (ISBER) defines biobank as an entity thatreceives, stores, processes, and/or disseminates specimenas needed. It encompasses the physical location as wellas the full range of activities associated with its oper-ation [6].Also, European Commission (EC) gave a definition.

Joint Research Centre (JRC) published in 2015 in Scien-tific and Technical Reports a paper, Biobanking in Europe:prospects for Harmonization and Networking, which givesthe following definition: biobanks are organized collec-tions consisting of biological samples and associated dataof great significance for research and personalized medi-cine [7]. Two years later, the European Commission pub-lished another document: Report of an expert group onDealing with Ethical and Regulatory Challenges of Inter-national Biobank Research: Biobanks for Europe, A chal-lenge for governance with more comprehensive definition.Biobanks typically:

� Collect and store biological materials that areannotated not only with medical, but often alsoepidemiological data;

� Are not static “projects,” since biological materialsand data are usually collected on a continuous orlong-term basis;

� Are associated with current and/or future researchprojects at the time of specimen collection;

� Apply coding or anonymization to assure donorprivacy but have, under specific conditions,

Fig. 1 Main impacts of personalized medicine. The implementation of personalized medicine requires a confluence of multiple factors. Fullimplementation of personalized medicine can only be achieved when all sectors converge toward the center. Modified from [1]

Fig. 2 Ten ideas changing the Word right now. In 2009, TimeJournal has published ten ideas that had influenced the world’schanges. On the eighth position were biobanks as potential forbiomedical research. Modified from [2]

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provisions that participant remain re-identifiable inorder to provide clinically relevant information backto the donor;

� Include established governance structures andprocedures (e.g., consent) that serve to protectdonors’ rights and stakeholder interests.

At the moment, the biggest player in the field ofbiobanks, Pan-European Biobanking and BiomolecularResources Research Infrastructure (BBMRI), defines bio-banks as follows: biobanks contain biological samplesand associated information that are essential raw mate-rials for the advancement of biotechnology, humanhealth, and research and development in life science [8].Also, many authors published various definitions of

biobanks with respect to one or some special features ofbiobanks.The very simple but generally accepted definition was

published by Kauffmann and Cambon-Thomsen in 2008[9]: biobank is an organized collection of human bio-logical material and associated information stored forone or more research purposes.And finally, the definition offered by Artene et al. [10]

clearly describes the biobank as a set consisting of twodifferent parts:

� The biological material that is collected, processed,and long-time stored;

� The database, including information aboutdemographical and clinical data for each sample andalso associated with the bank inventory with themain activities: biospecimen collection, processing,storage or inventory, and distribution of biologicalmaterial.

Generally, the definition of biobank consists of threegroups of relatively distinct information:

� Biological human material;� Attached or connected information;� The legal issues like consent and patient/individual

data safety and protection.

It makes the science of biobank so comprehensive andcomplicated because it requires a multidisciplinary anduniversal approach in all stages of life cycle of thebiobank.

Time for biobanksThe idea of biobanks is not new. In many countries,biological samples not only of human origin were col-lected more or less systematically for many decades,with more or less connected information of the indi-vidual. These samples were taken randomly, collected,

stored, shared, and provided for other purposes in thebeginning without regulations and rules. At the timethe requirements for the type of the sample (blood,urine, RNA, DNA, tissue …) size and the way howthe sample is taken, transported, saved, and preservedbecame more specific and precise, it meant the quan-titative and qualitative characteristics of samples werespecific according to the advances in biomedical andclinical trial or research. Such great event like the se-quencing of human genome in 2001 opened the doorto new methods on how to study diseases and disor-ders. New and emerging technologies are based onimproved molecular profiling, better understanding offactors, and processes leading to understanding of theethiopathology of diseases. These achievements en-abled new approach to the health care based on indi-vidual genomic, proteomic, and metabolomic profiles[11]. The side effect of the progress in biomedical re-search is the emergence of “big data,” large-scale data,and information about patients’ characteristics, dis-eases, and epidemiological, environmental, lifestyle,and societal data which require a new approach tohandle the whole process of the sample manipulation,and consequently biobanks.Stratification of patients is another result and a re-

quirement for biobanks that enable a shift from“one-size-fits-all” [11] to more targeted therapy,therapy models, and in silico therapies. A stratifiedapproach based on detailed information about theindividual biological variation, complemented withenvironmental, life factors, and societal informationenable to study the health and diseases in complexityand to improve the individual health care, with re-spect to age, sex, demography, and relevant costs(Fig. 3) [12].New knowledge in informatics, bioinformatics, and in-

formation technologies strongly supported and still sup-ports the formation and development of biobanks.Biobanking has been identified as a key area for de-

velopment in order to accelerate the discovery anddevelopment of new drugs, recently especially in on-cology [13].Biobanks play an important role in identification of

new biomarkers. Population surveys and biobanking re-search are essentials tools in the elucidation of theetiology of complex diseases and the molecular basis ofdisease subtypes. A more precise biology-based classifi-cation of disease speeds up the development of highlysensitive, high-throughput methods more targeted, ef-fective, and cost-effective treatment, reduces the inci-dence of undesired side effects of therapy, improvesaccess in clinical and pharmacology trial design, andleads to new concepts of disease prevention and healthpromotion [14]. Zatloukal and Hainaut [15] suggest a

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novel way of structuring biobank network according tothe clinical trial design, thus creating a step-by-stepprocess, starting with assessing and measuring identifiedbiomarkers, through to whether the biomarker is in-formative in determining the trialed drug’s effect.

New dictionary for biobanksAs biobanking is developing to the science of biobank-ing, new requirements are appearing regarding defini-tions, obligations, and terminology. Scientists fromdifferent scientific branches do not understand the termsin the same way, and even between countries, significantdifferences can be found. Fransson in his study [16]clarifies the general understanding of several most usedterms: biobank, sample, specimen, aliquot, coding, an-onymizing, personal data, and patient’s informed con-sent. Some new terms have to be defined or redefinedfor the purposes of biobanks like genetic data, biometricdata, and impact assessment. The study shows a consid-erable confusion in some of the terms used in the bio-bank community.

Modern history of biobanksBiospecimens have been collected and stored in con-junction with clinical and epidemiological studies forseveral decades. The first biorepositories have existed invarious forms for over 150 years, from early small collec-tions to modern automated facilities managing millionsof samples [17].Human specimens have been collected and stored at

institutions in the USA and elsewhere for over 100 years.Historically, these stored tissue samples have been usedby the biomedical community for educational and re-search purposes. More recently, the stored tissues haveplayed a major role in understanding and treatment ofdiseases [18]. The history of real biobanks is not long,about 30 years. The first banks were repositories of ran-domly collected samples and information; data associ-ated with stored biospecimens have increased in the

mean time in complexity from basics, such as date ofcollection and the diagnosis, to extensive informationsets encompassing many aspects of participant or patientphenotype, now rapidly extending into genetic, prote-omic, and other -omics information. From the histor-ical point of view, the chronologic development wasfollowed by De Souza and Greenspan [19]:

� Academic/university-based repositories, possibly thefirst biobanks in existence, developed almostexclusively around single-project goals and researchrequirement;

� Institutional- or government-based biobanks thathold greater numbers of samples for a widerresearch purposes;

� Commercial/for-profit biorepositories;� Population-based biobanks, where long-term

sample acquisition from broad populations enableslongitudinal studies such as disease monitoring,aging studies, and biomarker discovery;

� Virtual biobanks that hold no physical specimensbut offer location and retrieval services for samplesheld globally or nationally.

Because the science of biobanking is very closelylinked to the development of an enabling infrastructure,it requires scientists to work more closely with eachother and with funders than has historically been thenorm in biomedical science [20].

Types of biobanksBefore the biobanks classification from various sources willbe presented, the difference between biobank and biorepo-sitory has to be clarified: the term biobank has been usedinterchangeably with biorepository [21]. Previously OECDused the term “biological resource center” not only for re-positories, but also for suppliers of health research services[5]. The International Agency for Research on Cancer(IARC) used the term “biological resource center” for

Fig. 3 Personalized medicine contribution to better health care. Stratification of patients is another result and requirement for the biobanks thatenable shift from “one-size-fits-all” 11 to more targeted therapy, therapy models, and in silico therapies. A stratified approach enables to improvethe individual health care, with respect to age, sex, demography, and relevant costs. Modified from [12]

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collections of human cancer samples [22]. In the USA, theNational Cancer Institute defined the term biorepository asan organization, place, room, or container where biospeci-mens are stored…in a freezer by an individual researcher[23]. Likewise, the term biobank has been used in this con-text by other US and European institutions [22].Classification of biobanks is not simple and is based

on different approaches: there are various types ofbiobanks like population-based, diseases-oriented, hos-pital- or academic- based, networked, or run by thegovernment, non-profit organizations, or commercialcompanies among others [24].Biobanks also vary in scale, nature, contents, and par-

ticipants. Some definitions overlap, and in definition ofbiobanks, they may be “radically contrasting views overhow certain attributes should be identified, formulated,defined, or ranked…” [25].Human biobank classification (according to biomedin-

vo4all website) [26] is based on:

� Tissue type (tumor tissue, cells, blood, DNA, orDNA array results);

� Purpose/intended use (research, forensics,transplantation, source for therapeutics, e.g.,umbilical blood, stem cell biobanks for individual orcommunity use, or diagnostics);

� Ownership (academic and research institutions,hospitals, biotechnology and pharmaceuticalcompanies, and stand-alone biobank companiesand foundations may hold biobanks.

Ownership may be private, public, or in partnershipacross sector boundaries (ownership may be public,managed in partnership with government).

� Volunteer group/group of participants (population-based, such as all newborns, adults, or pregnantwomen, or disease-based, including only those witha specific disease).

� Size (disease group, regional, statewide, or national).

Gottweis and Zatloukal [27] defined four basic typesof research biobanks:

� Clinical/control based on biological specimen frompatients with specific diseases and from non-diseased control;

� Longitudinal population-based biobanks that follow aportion of the population over a large period of time;

� Population isolate biobanks with a homogenousgenetic and environmental setup of the populationrepresented;

� Twin registries with samples from monozygotic anddizygotic twins.

Rebulla et al. [28] classification is even broader andidentifies six types of biobanks:

� Leftover tissue biobanks collected during clinicalpathology diagnostic procedures;

� Population biobanks;� Twin biobanks;� Disease biobanks from patients suffering from a

specific condition;� Organ biobanks;� Nonhuman biobanks.

Currently, the generally accepted classification comesfrom the pan-European Biobanking and BiomolecularResources Research Infrastructure (BBMRI) [8], whichdistinguishes between only two types of biobanks:

� Population-based biobanks (population-basedprospective biobanks focused on the study of thedevelopment of common, complex diseases overtime).

� Disease-oriented biobanks (biobanks of tissuesamples and clinical data also referred to as diseaseoriented or clinical biobanks).

What kind of human material is collected in biobanks?The world’s most comprehensive directory of biobanks,tissue banks, and biorepositories collect blood, wholeblood, plasma, serum, RBC, white cells, ducal swab,DNA, RNA, protein, cell lines, fluid, urine cerebrospinalfluid, synovial fluid, amniotic fluid buffy coat, bone mar-row stem cells, and tissue provided by Global Bank Dir-ectory, Tissue Banks, and Biorepositories [29].

Infrastructures and international projects of biobanksBiobanks encompass a unique research infrastructurethat requires different governance mechanisms thanproject-based research. The governance mechanismsmust balance the needs of the scientific communityand the participants with an emphasis on the recogni-tion of participants, trustworthiness, and adaptivemanagement [30].In recent years, biobanks across the globe have re-

ceived much attention as a new key infrastructure andresource for biomedical research and drug development.Increasingly, biobanks are becoming networked andeven international projects in the context of post-genomic medical research [31].Biobank consortium EuroBioBank (EBB) network

(www.eurobiobank.org) was the first operating networkof biobanks in Europe to provide human DNA, cell, andtissue samples for research on rare diseases (RDs). TheEBB was established in 2001 to facilitate access to raredisease biospecimens and associated data; it obtained

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funding from the European Commission in 2002 as aproject in the 5th Framework Programme (FP5) andstarted operation in 2003 [32].The most important and the biggest infrastructure in

Europe and even all over the world is Biobanking andBioMolecular resources Research Infrastructure—Euro-pean Research Infrastructure Consortium (BBMRI-ERIC,http://www.bbmri-eric.eu/). BBMRI:

� Pan-European distributed infrastructure of existingand new bio-banks and biomolecular resourcecenters;

� Provides access to human biological samples that areconsidered as essential raw material for theadvancement of biotechnology, human health, andresearch and development in Life Sciences (e.g.,blood, tissues, cells or DNA that are associated withclinical and research data);

� Comprises biomolecular research tools and bio-computational tools to optimally exploit thisresource for global biomedical research.

The mission of BBMRI-ERIC is to increase efficacy andexcellence of European biomedical research by facilitationaccess to quality-defined human health/disease-relevantbiological resourced through:

� The inclusion of associated data in an efficient andethically and legally compliant manner;

� By reducing the fragmentation of the biomedicalresearch landscape through harmonization ofprocedures, implementation of common standards,and fostering high-level collaboration;

� By capacity-building in countries with less developedbiobanking communities thereby contributing toEurope’s cohesion policy and strengthening theERA.

The science of biobanksThe science of biobanks is very broad and diverse andincludes research, education, funding, publishing, bio-banking services, and others. A lot of activities have ap-peared to support the development of biobanks. In 2005,Office of Biobanking and Biospecimen Research (OBBR)was based in the frame of US National Cancer Institute(NCI). Also, in Europe, a lot of activities supporting thebiobank development have been raised, some of them inthe frame of 7th Framework Programme of EU (FP7)in years 2007–2013 and continues in the followingframework program, Horizon 2020 (2014–2020). EUfunded projects are pioneering the development oftechniques for population genetics and performinglarge population studies on the genetic predispositionto major diseases. Support is also provided for

development of harmonization protocols and for col-lection, storage, and management of patient samplesand of genetic data across Europe. Recognizing thepower of population-based approaches to study geneticsusceptibility for disease, between 2002 and 2008, theEuropean Commission’s Framework Programmes for Re-search and Technology Development (RTD) have pro-vided more than €60 million to collaborative researchprojects in this area. The most relevant projects are men-tioned here.Project P3G (the Public Population Project) in Gen-

omics is an international consortium with members in40 countries. It aims to lead, catalyze, and coordinateinternational efforts and expertise, so as to optimize theuse of studies, biobanks, research databases, and othersimilar health and social research infrastructures (http://www.p3g.org).Project SPIDIA (Standardisation and improvement of

genetic Pre-analytic tools and procedures for In-vitroDIAgnostics, http://www.spidia.eu) was launched in2009 and brought together 16 academic institutions,international organizations, and life sciences companies.The project aid is to standardize and improve pre-analytical procedures for in vitro diagnostic testing [13].The ENGAGE (http://www.euengage.org/) consortium

has brought together 24 leading research organizationsand two biotechnology and pharmaceutical companiesacross Europe and in Canada and Australia. ENGAGEaims to translate the wealth of data emerging from large-scale research in genetic and genomic epidemiology fromEuropean (and other) population cohorts into informationrelevant to future clinical applications. The concept ofENGAGE is to enable European researchers to identifylarge numbers of novel susceptibility genes that influencemetabolic, behavioral, and cardiovascular traits and tostudy the interactions between genes and lifestyle bio-markers factors.The ENGAGE consortium will integrate and analyze

one of the largest ever human genetics dataset (morethan 80,000 genome-wide association scans and DNAsand serum/plasma samples from over 600,000 individ-uals). One goal is to demonstrate that the findings fromENGAGE can be used as new diagnostic indicators forcommon diseases that will help us to understand betterrisk factors, disease progression, and why people differin responses to treatment.HYPERGENES project (http://www.hypergenes.eu)

is focused on the definition of a comprehensive geneticepidemiological model of complex traits like essentialhypertension (EH) and intermediate phenotypes of hyper-tension dependent/associated target organ damages (TOD)as well as other endophenotypes as the pharmacogenomicpattern of drugs widely used in EH. The discovery of thegenetic component in common complex diseases is

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extremely challenging since most of them are multifac-torial and since the genetic component is likely to bedescribed by the interactions of several genes involvedin the disease pathway, each predisposing imperceptiblyto the disease. HYPERGENES adopted the genome-wide association (GWA) approach to identify commonvariants contributing to the inherited component ofcommon diseases.The GEN2PHEN project (http://www.gen2phen.org/)

aims to unify human and model organism genetic vari-ation databases toward increasingly holistic views intogenotype-to-phenotype (G2P) data, and to link this sys-tem into other biomedical knowledge sources via gen-ome browser functionality. The project will establish thetechnological building-blocks needed for the evolutionof today’s diverse G2P databases into a future seamlessG2P biomedical knowledge environment, by the pro-ject’s end. This will consist of a European-centeredbut globally networked hierarchy of bioinformaticsGRID-linked databases, tools and standards, all tiedinto the Ensemble genome browser.All together, 34 projects were/are supported by Euro-

pean Commission in FP7, and the process continues inHorizon 2020.Not only framework programs of European Union

support the biobanking in Europe and all over theworld, but also other international initiatives contrib-ute to the development of biobanking. InnovativeMedicines Initiative (IMI, http://www.imi.europa.eu/),Europe’s largest public-private initiative, is aiming to speedup the development of better and safer medicines forpatients. IMI supports collaborative research projects andbuilds networks of industrial and academic experts inorder to boost pharmaceutical innovation in Europe. IMI isa joint undertaking between the European Union and thepharmaceutical industry association—European Federationof Pharmaceutical Industries and Associations (EFPIA)(Fig. 4) [33].

InternalizationA multitude of national and regional population-basedand disease-oriented biobanks have been established inEurope. However, the exchange of data and materialswithin national legal frameworks is still difficult andEuropean biobanking efforts are characterized by frag-mentation [34]. Despite the unique European strength,value and irreplaceable national collections suffer fromunderutilization due to fragmentation of the Europeanbiobanking research community. Promising inter-national initiatives are challenged by the heterogeneouslegal, ethical, and societal environments. There is an ur-gent need for coordination and harmonization of thebiobanking.

Many of the scientific institutions, which are currentlyin the process of establishing or using biobanks may beoperating in a legal “gray zone,” because:

� There are currently very few specific legalregulations pertaining to such collections;

� Where such regulations do exist, they vary greatlybetween different countries;

� Solid experience of legal practice is widely lacking inthe field of biobanking.

Furthermore, a comprehensive assessment of the legalstanding of a biobank would severely strain the logisticaland financial resources of most interested institutions [35].Biobanks are embedded in complex networks of re-

search collaborations that span regions and countries. Atthe moment, no single laboratory, institution, or countryis able to cover the whole problematics of biobanking.International multidisciplinary cooperation is the corner-stone in the complex process of biobank developmentand operational functioning.

Biobanks, bioinformatics, and ICTThe ability to correlate data and biospecimens from dif-ferent biobanks is crucial to accelerating the pace oftranslational research. A meta-model to describe infor-mation about a biobank is already under construction asa first-step data sharing among biobanks that exhibittremendous heterogeneities. This work is being con-ducted internationally to help harmonize the nationalbiobanks participating in the Biobanking and BiomolecularResources Research Infrastructures Initiative (BBMRI)(http://www.bbmri.eu/index.php/). Information aboutthe participating biobanks is captured by a commonset of attributes (minimum data set) designed toadopt different kinds of collections. The latest inter-operability and semantic web technologies can beused for building resource description frameworks fordata and services providing flexible frameworks thatcan be used in different data-sharing scenarios.

Ethical, legal, and social issues (ELSI)Ethical issues are commonly present in many aspects ofbiobanking. The fact that biobanks deal with humansamples, invading an individual autonomy or limitingself-control, provokes a number of ethical issues [36].The use of biobanks is increasing and raises a lot of

ethical, legal, and social issues. In addition to these, thereare also other issues which have to be taken in accountsuch as equipment which means processing, annotation,storage, and operating procedures like samples accrual,processing, annotation, storage, release, distribution, andtracking. Any kind of related information must be con-sidered: clinical informatics like pathology, treatment,

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outcome data, and database structures and as mentionedabove, patient (informed) consent, preference list, inven-tory management tools, and query tools. And finally,national policies, economic models including fundingsources, user fees, intellectual property, governancemodels, and education and training of all stakeholders(the donors, investigators, funding agencies, institutionhousing the biosamples and ethics review committee)have to be included.

Currently, most actual questions that have to be an-swered are as follows. What are the ethical trends andlegal frameworks in the post-genomic era? Are therenew issues in relation to the developments of techniquesand new study designs? How does this affect the clini-cian’s attitudes and relationship with the patients? Themain ethical issues encountered are informed consent,confidentiality, secondary use of samples and data overtime, and return of results [37, 38].

Fig. 4 The projects including biobanking activities supported by Innovative Medicines Initiative 2 (2009–2014). Modified from [32]

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Informed consentInformed consent [39] according to international con-ventions and guidelines principles in research ethics isto guarantee the voluntary participation in researchand address privacy issues in research. Informed con-sent consists of three basic components: adequate in-formation, voluntariness, and competence. It meansthat prior to consenting, a participant should be in-formed of the goal of his participation and research,possible risks and adverse event, and the possibility torefuse or withdraw from research at any time. Informedconsent is required when the research involves the par-ticipation of human beings, when the research usesgenetic material or biological samples, and when theresearch involves personal data. Informed consentshould respect individuals’ autonomy and vulnerability.Special attention must be paid to specific groups ofparticipants like children, elderly, mentally deficientpersons, severely injured patients, and participants withspecific cultural or traditional background, ethnicspecificity, and so on.Recently, the discussion has focused on the problem

if the consent has to be general or broad [37]. Themore general consent is less informed; on the otherhand, it averts all aspects relevant to the patient’schoice. The existence of different terms has posed amajor problem for discussions on confidentiality is-sues. European Medicines Authority (EMEA) has pro-posed the terminology and nomenclature that hasbeen adopted by the International Conference onHarmonization of Technical Requirements [40]. Thenomenclature is in basic terms as follows: identifieddata and samples are labeled with personal identifierssuch as name or identification numbers; coded dataand samples are labeled with at least one specificcode and do not carry any personal identifiers; andanonymized data and samples are initially single ordouble coded, but the link between the subjects’ iden-tifiers and the unique code(s) is subsequently deleted.Once the link has been deleted, it is no longer pos-sible to trace the data and samples back to individualsubjects through the coding key(s). The discussionabout absolute safety has led to the new term openconsent model proposed by Lunshof et al. [41], which re-frains from any promises of anonymity, privacy, or confi-dentiality [31].

Confidentiality, privacy, and data protectionData protection and privacy are fundamental humanrights which need to be protected at all time [42].Participants want to have control over their personalinformation and personal communications, and theseshould be treated confidentially. Data protectionguarantees the right to privacy. Data protection reveres

to the technical framework and security measuresdesigned to guarantee that all personal data are safefrom unforeseen, unintended, or malevolent use. Dataprotection therefore includes both measure with regardsto access to data and the conservation of data. Also,accuracy of data can be included in a data protectionstrategy.A very important issue is (personal) data owner-

ship. Since there are clearly multiple stakeholders ina biobank—the donors, investigators, funding agen-cies, institution housing the biosamples, and ethicsreview committee—it has been proposed that the in-stitution of the biobank should hold “custodianship”for the use of the resource, and that the custodian ofthe samples should fulfill numerous responsibilities[43].Sharing the best practices and procedures in biobanks

requires the process of harmonization. Harmonization isa more flexible approach aimed at ensuring the effectiveinterchange of valid information and samples [44]. Theimportance of the harmonization process is to articulatethose situations in which true standardization is required.Standardization means precisely the same protocols/standard operating procedures (SOPs) used by all bio-banks. Likewise, comparison of high-throughput-technology-derived data requires that platforms andoperational details be identical. Harmonization iscontext-specific and pertains to the compatibility ofmethodologies and approaches to facilitate synergisticwork. It thereby relates to the critical areas of gener-ating, sharing, pooling, and analyzing data and bio-logical samples to allow combining resources andcomparing results obtained from different biobanks.Harmonization includes technologies and proceduresfor phenotype characterization, sample handling, in vitroassays, computational biology analytical tools and algo-rithms, data-coding, and electronic-communication proto-cols that enable biobanks to network together withincompatible ethic-legal frameworks [20].Harmonization initiatives have brought together indi-

viduals with diverse expertise. On the basis of consensus,they have developed standards, tools, technologies, andresources, which are widely available to the biobankingcommunity today [45]. Currently, the biobanks differ instructure, purpose, and design. That is why they contrib-ute to the generation and translation of knowledge toclinics, public health, and technology in different ways,and the process of harmonization of the practices,polices, and operations is heavy going. Despite this,harmonization fosters the amount of data and specimensuseable, and translational science will rely on fundamen-tal biological data to (re)classify human disease on thebasis of causality and to identify relevant drug targetsand biomarkers [46].

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Biobanks and personalized medicinePersonalized medicine is currently characterized as “4P,”personalized, preventive, predictive, and participatory [47].Biobanks can contribute to all of these characteristics:

� Personalization reflects the achievements in geneticscience in individualized digital genome.

� Predictiveness reflects the ability to predict the riskof certain disease based on information of individualgenome in combination with additional informationlike age, sex, lifestyle, and social and environmentaldata.

� Preventiveness reflects the individual ability to avoidor minimize risk factors for certain disease.

� Participation reflects the individual proactivebehavior in the whole process of health care; itmeans empowerment of individuals to undertakeinformed decisions about their health future.

The European Association for Predictive, Preventive &Personalised Medicine (EPMA) as a key player in thefield of personalized medicine in Europe considerbiobanking as an integral part of personalized medicineapproach to the health care and strongly supports thefuture biobank development [48–50].

Future of biobanksDespite the progress, biobanks still face a lot of issues tobe solved in the whole process of biobanking (Fig. 5)[51]. Biobanking is facing the lack of harmonization, lackof standards, agreed vocabulary, common data elements,and best practices for collecting data and processingsamples. An accreditation and evaluation system torecognize biobanks that provide high-quality samples,and reward and acknowledge scientists, who establishand maintain biobanks, should be established [32].

However, most European citizens have never heard ofbiobanks, nor do they know of their importance in re-search. Education at any level is the underestimatedissue. The current discussion is on people’s and/orpatients’ engagement with biobanks and people’swillingness to participate in biobanks.Furthermore, the legal and regulatory frameworks that

apply to this area are fragmented little interest in fund-ing small biobanks that contain and exchange limitednumbers of samples.Long-term sustainability is a major challenge for bio-

banking. A number of considerations are critical tokeeping biobanks and the research they support activeand dynamic. The need for long-term investments intobiological resources is clearly evident when longitudinaldata are needed. Prospective collections of data andsamples from asymptomatic individuals will allow futureidentification of premorbid and subclinical periods ofdisease development and will identify prognostic anddiagnostic biomarkers and drug targets [52].

ConclusionsBiobanks are complex systems of systematically pro-grammed storage of human material and associated data.In the past 20 years the science of biobanks has becamean integral part of personalized medicine and a greatnumber of biobanks have been established all over theworld to support the dramatic development in diseasesprevention, prediction, diagnosis and treatment.

Competing interestsThe author declares that she has no competing interests.

Authors’ contributionsJK wrote the whole text of the manuscript. JK read and approved the finalmanuscript.

Fig. 5 The process of biobanking. Physicians and health care staff members fulfill essential roles in biobanking, which frequently intersects withroutine clinical activity. By obtaining specific biobanking knowledge and expertise, individuals will be uniquely positioned to play leadership rolesin this cross-cutting field within their institution. Modified from [52]

Kinkorová The EPMA Journal (2016) 7:4 Page 10 of 12

AcknowledgementsThe author appreciates the assistance of Prof. O. Topolčan, Faculty Hospitalin Pilsen, for his valuable comments to the manuscript.

FundingThis manuscript was supported by a grant BBMRI – LM 201 0004.

Received: 15 December 2015 Accepted: 24 January 2016

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