Annual Conferences of the European,Middle Eastern and African Society for Biopreservation and Biobanking (ESBB): Overview of 2011 and Preview of 2012

Marseille Conference

The first ESBB conference was held in Marseille, France, from the November 16–19, 2011, and the venue was the Pullman Palm Beach Hotel. The theme chosen was “Identifying the challenges and the opportunities for biorepositories today and in the next 5 years.” The intention was to identify major challenges and opportunities across the whole biobanking spectrum in order to guide future activities of the society. The overall range of issues considered was broad, extending from the sample donor to the repository to the generation of research results. The meeting catered to all parties interested in biobanking from both human and non-human biobanks, with particular emphasis on issues relevant for Europe, the Middle Eas,t and Africa, since this is the geographic scope of ESBB.

The main points from this conference, with some detail on each of the presentations in the following sessions, are provided:

1. Next steps in biobank networking and harmonization

Additional information about individual presentations, including the original slide presentations in some cases, is available on the ESBB website at http://www.esbb.org/nov2011/index.html.

Granada Conference

ESBB's second annual conference and joint congress with the Spanish National Biobank Network in Granada will return to many of the challenges and opportunities identified in the Marseille conference. The status and future of biobank networks will be revisited starting with a talk by Manuel Morente, the keynote speaker, on the Spanish National Biobank Network. Later in the first session, there will be a talk on the Asian Network for Research Resource Centers (Yeonhee Lee), which is an international network for non-human sample collections.

There will be two sessions devoted to biobanking in emerging countries to continue to highlight this important area in which so much progress still needs to be made. There will be presentations on progressive approaches to many of the ongoing challenges in the field as well as development opportunities. In order to attract more delegates from emerging countries, ESBB is offering travel fellowships and substantial registration discounts for nationals of HINARI group A and B countries in the EMEA region. The proximity of Granada to North Africa and the cultural diversity of the city may also help attract participants from this region.

There will be a session on advances in biopreservation science to bring attendees up to date in this rapidly developing area. In addition there will be a session that asks the question whether there is convergence of research and therapeutic biobanking. Presentations in this session will relate to biobanks of clinical samples intended for research and/or for therapeutic purposes. The question of whether biobanks will increasingly serve both purposes will be addressed.

The rapid developments in genomics and informatics have raised many new data protection issues, both from the ethical and legal perspective and from the technical/informatics perspective. The PRIVATE Gen project is a major study on privacy and data protection issues related to post-genomic research in Austria, Finland and Germany. Herbert Gottweiss will organize a satellite meeting on this project as well as a related plenary session during the joint congress. Related to this, there will be a session entitled “Facing the Cloud: Data Sharing, Safety, Security, and Standards” that will cover technical/informatics aspects of data security.

There will be a session on “Biobanking to Fight the Loss of Biodiversity,” continuing this popular and important theme from last year. The conference will end with a plenary session entitled “The Tree of Life, Cancer and Biobank-Omics” that will address the challenges presented by genomics and other types of –omic analysis, in terms of the high volumes of data to be analyzed and stored, as well as the technical and scientific aspects. It will include presentations relating to two major projects: the Global Genome Project and the International Cancer Genome Project.

Together, these sessions will highlight progress and continue to focus attention on the biobanking challenges and opportunities ahead of us in the EMEA region. Once again this year, delegates will be encouraged to join existing working groups and to form new ones where appropriate. In this way we can combine our different strengths and work together to solve common problems.

Next steps in biobank networking and harmonization

Since the Biobanking and Biomolecular Resources Research Infrastructure (BBMRI) occupies a central place in the development of biobanking for medical research in Europe, it was appropriate that Kurt Zatloukal, as a key leader of this major research infrastructure project, should begin the conference with an overview and status update. He explained that since the BBMRI planning stage ended in January 2011, individual member states have taken over responsibility and are driving the implementation phase of the project. He emphasized the importance of a new European legal framework (ERIC) which will help biobanking operations in different countries to collaborate more efficiently. In addition, he highlighted the fact that the cooperation and alignment encouraged by the BBMRI Partner Charter will assist the development of a harmonized biobanking landscape in Europe. Finally, he mentioned the concept of Expert Centres as a mechanism to encourage collaboration between academia and industry, as well as collaboration with countries outside Europe which have restrictions on the export of biological samples (e.g., China and India).

Jan-Eric Litton of the Karolinska Institute in Sweden followed with a presentation describing BBMRI initiatives from the informatics perspective. He explained the importance of defining a minimum dataset for biobanks as “a glue” that will connect biobanks and described systems involving this minimum data set that are being now being developed. He highlighted the central importance of building trust in biobanking, given that we need to find the right balance between privacy for individual interests and access for collective interests, and he proposed the Bio-PIN as a concept to gain the trust of sample donors.

George Dagher of INSERM in Paris described the BIOBANQUES project, to establish the French national biobanking infrastructure. This has a construction phase (2011 – 2016) with 11 million Euros of funding and an operational phase (2017 – 2022) with 6 million Euros funding. Objectives include “one-stop” access for biological resources, interoperable research databases, common systems for quality management and training and establishment of an Expert Centre. Ensuring sustainability was identified as a key challenge and the need to establish cost recovery systems was defined as an important goal in the near future.

Jeanne-Hélène di Donato of 3C-R, also based in France, described how biobanking has developed over the past 20 years, from personal collections of individual researchers, to shared biobank resources. She underlined the importance of professionalization of the activity for reasons of quality, security, traceability, access and ethical concerns. In relation to professionalization she described the French standard for BRC certification (NF S 96-900).

In recent years much has been achieved in the medical biobanking field in terms of setting the direction for development of biobanking infrastructure and practice: BBMRI itself has transitioned from the preparatory to the implementation phase. Mylène Deschênes concluded this session by describing how as a reflection of such progress, P3G's priorities have evolved from an initial focus on development of high quality interoperable research infrastructures, to a new focus on “optimal access and use of population biobanks and databases” as described in the revised mission statement.

Contributed papers on biobanks and biobank networks

Elke Smits provided information on the position of the Center for Medical Information (CMI) in Flanders as a model for translational biomedical research collaboration. Activities include creating, coordinating, organizing and stimulating collaborative R&D efforts between universities, industry, international institutions and organizations with similar goals. A pivotal point which was exposed was that for future development, coherent and directed policies will be absolutely necessary among the biobanks of this network.

Ann Cooreman of Tissue Solutions, UK, described the model of a virtual biobank to provide access to human samples, particularly for industrial partners. Her working definition was that a virtual biobank has no stored samples but rather a network of sources that facilitates users' access to samples. It may be commercial or non-commercial. A virtual biobank has more flexibility than a commercial or hospital biobank and is often better able to meet the needs of users, providing a “one stop shop.”

Michiel Verlinden of the University of Leuven in Belgium gave a presentation on how to provide access rules and procedures within and between biobank networks (such as best practices, guidelines and opinions on access of international, regional and national organizations) and explore relevant legal principles and concepts underlying balanced access rules and procedures in biobank networking. He reviewed 88 sets of access rules and procedures for national organizations and biobank networks around the world. His findings indicate that access rules and procedures for biobank networks are in need of harmonisation.

Frans van der Horst detailed the different roles of the Dutch Collaborative Biobank which deploys a high quality, user friendly and cost efficient physical and digital biobank infrastructure and includes centralized hosting of sample collections. Angeles Munoz Fernandez provided information on the HIV HGM Spanish biobank with respect to the different participants in this project, and the receipt and release samples. To date, more than 3,900 samples have been provided for 30 national and international research projects.

Joseph Henny then described the biobank of the French CONSTANCES cohort which aims to be an open general-purpose epidemiological infrastructure, with a focus on the problems of chronic diseases, aging, occupational risks, social determinants, health inequalities and women's health. Main features of the cohort are that participants are 18–69 years at inception and representative of the general population for age, gender and socioeconomic status. The target size is 200,000 subjects and it will run for 5 years starting in January 2012.

Biobank networking in Africa and the Middle East

This session provided the audience with an introduction to the challenges of biobanking in these regions, together with encouraging success stories.

Muntasar Ibrahim of the University of Khartoum, Sudan, presented some of the challenges for biobanking in Africa. In view of ethnic diversity and cultural sensitivities, it is essential that local collaborations are central to these biobanking projects. The opportunities were also highlighted, including the unique genetic and population aspects of the African people.

Karen Meir from Hadassah Hebrew University Medical Centre in Jerusalem described challenges of establishing a national cancer biobank in Israel. Recounting how this initiative has grown over recent years and finally has received core government support, Dr Meir's presentation was a clear example of how perseverance and persistence are vital ingredients in creating a biobank network.

Hagen Von Briessen from Fraunhofer Institute for Biomedical Technology, St Ingbert's, Saarland, Germany described the close collaborative links between Fraunhofer and South Africa with the HIV specimen Cryorepository. This presentation clearly demonstrated how the Fraunhofer's technology developments were facilitating delivery of care to patients in rural areas while creating the biobank in parallel.

Finally, Paul Bartels from Biobank South Africa presented an overview of wildlife biobanking. He demonstrated how the wildlife bank could impact conservation efforts as well as biotechnology development. Recognizing the endangered status of many species, Biobank SA is creating a living record of South African Biodiversity.

In summary, this session showed the audience that despite the many challenges, biobanking in Africa and the Middle East is a critical activity and will doubtless continue to grow and influence biological and biomedical developments globally.

Biobanking economics: how to justify and maintain long-term funding

Establishing and running a professional biobank requires substantial funding and since biobanks are generally long-term projects this funding may need to be continued for decades. Economic evaluation is therefore crucial.

Jim Vaught of the Office of Biorepositories and Biospecimen Research (OBBR), US National Cancer Institute described studies on biobank business planning and economic impact that have been published in two recent JNCI Monograph articles.^1,2 To develop a sustainable business model, it is necessary to evaluate the costs of infrastructure (initially high) and personnel, as well as operating costs from collection and shipping, to processing, storage, retrieval and distribution. Cost recovery was evaluated as well as the fundamental factors that drive the value of samples such as fitness for purpose, sample quality and data richness. The many economic benefits of high quality biobanking include job creation, more efficient research and avoidance of repeat experimentation, reduced costs of clinical trials, improvements in patient diagnosis and reduced costs of clinical care.

Laurence Mabile of INSERM, Toulouse, France, provided an update on the Bioresource Research Impact Factor (BRIF) project which aims to measure the scientific impact of individual bioresources (biobanks and databases) as a means of enabling proper recognition and reward. Key elements of the BRIF include the unique identifier of the bioresource to be used for acknowledgement in publications, together with parameters reflecting bioresource usefulness that will be used in calculating the BRIF. An international working group has been formed to develop the BRIF, with subgroups to address the following issues: development of a suitable unique identifier, identification of appropriate parameters to measure usefulness, understanding how to influence editorial guidelines and lastly, analyzing access, sharing and publication policies of bioresources and their influence on BRIF calculation and interpretation.

Marc Reymond of ETSI-med, Bünde, Germany gave a thought-provoking talk on the relative value of retrospective and prospective biobanks. Using practical examples, he illustrated the fact that individual patients place much higher value on information that will help choose the best therapy (theranostic information) than on information that will determine prognosis, diagnosis or risk of developing disease. From this he concludes that in the future, market forces will drive theranostic studies rather than prognostic, diagnostic or predictive studies. Since theranostic studies require prospective biobanks (which can have clear inclusion and exclusion criteria, allow customization of collection and processing procedures), prospective biobanks are likely to flourish in the future, despite the fact they are more expensive than retrospective biobanks.

Talks in this session gave no implication that running a biobank will become less expensive in the future. Rather, they pointed to ways in which the true value of biobanks can be assessed and demonstrated. If the benefits of biobanking are made clear, then the costs will be easier to justify.

Scientific and technological advances that are helping to measure and maximize sample quality

In Europe stringent regulations govern the development and introduction of assays for diagnosis, but far fewer regulations govern the procedures for pre-analytic processing of samples. This is despite the fact that, “Preanalytical errors still account for nearly 60%-70% of all problems occurring in laboratory diagnostics, most of them attributable to mishandling procedures during collection, handling, preparing or storing the specimens”. ³ Clearly this situation requires urgent attention.

Uwe Oelmuller of Qiagen, Hilden, Germany, described progress on the SPIDIA (standardization and improvement of generic pre-analytical tools and procedures for in-vitro diagnostics) project which has the goals of providing evidence-based standards for pre-analytic processing of samples, to develop new technologies to improve this processing, to identify sample quality biomarkers and to disseminate knowledge through training programmes. One recent development he described was the PAXgene Tissue fixation technique, which involves non-cross-linking fixation, followed by stabilization and processing to paraffin-embedding. This gives similar results to formalin for the quality of tissue morphology, and similar results to cryopreservation for the molecular analysis of DNA, RNA and protein. This new technique will permit full molecular diagnostic analysis, with minimal change to the routine diagnostic workflow of pathology departments.

Fiorella Guadagni of San Raffaele Pisana Research Hospital, Rome, Italy, explained how informatics tools have been used to monitor and trace the life cycle of individual samples, processed according to a wide variety of protocols in a central molecular diagnostic laboratory. This monitoring allows determination of exactly when processing problems may have occurred in a sample life cycle, whether due to temperature variations, time delays or other parameters. The system described includes pre-analytic automation, a biobank information management system (BIMS) and radio-frequency identification (RFID) labeling of tubes. A software tool called “oloSPREC” was developed, so that each sample could be automatically annotated with a Standard PREanalytical Code (SPREC) to accurately describe its life cycle.

Paul Hofman of the University of Nice Sophia, France, described another RFID based system to monitor pre-analytic processing of tissue samples in a pathology department. The efficacy of this system was assessed in the MISTRALS project which covered over 1000 patients having surgery for lung pathology over a 2 year period. RFID tags were found to have many advantages over data-matrix and bar code labels. For example, tags can be read easily and rapidly, the error rate is reduced, information on the tags can be frequently updated and sample traceability is improved. It was also shown that the RFID system has no direct impact on quality of either DNA or RNA. The cost of RFID systems is likely to decrease rapidly as use of this technology increases.

Finally, Fay Betsou and Olga Kofanova of IBBL in Luxembourg concluded the session and the conference with an overview of the challenges and opportunities in biospecimen research including the associated science of cryobiology which focuses on preservation of viability and cell function. A few of the challenges and opportunities mentioned include: (1) the lack of appropriate tools for quality control (QC) and new funding opportunities for biospecimen research to find such tools; (2) difficulty accessing information about biospecimen research and the value of the literature compilation efforts made by the ISBER Biospecimen Science Working Group (BSWG); (3) methodological chaos in biospecimen research reports and the benefits of methodological guidelines set out in the Standard Biospecimen Research Experimental Protocol ⁴ (4) difficulties in preanalytical traceability and the advantages of using the Standard PREanalytical Coding for Biospecimens (SPREC) ⁵ ; and (5) lack of scientific recognition for biospecimen research and new publication opportunities through journals like Biopreservation and Biobanking.

There were three additional contributed papers related to biospecimen research. Francesca Poloni of IBBL, Luxembourg gave a report on the ISBER Proficiency Testing program which allows biorepositories performing quality control assays to assess the accuracy of their testing and to compare results with other laboratories around the world. It also provides a necessary external quality assessment tool for biorepositories that want to pursue accreditation. It was reported that the DNA quantification/purity and RNA integrity schemes are open to all interested laboratories globally and that two additional schemes (cell viability and tissue antigenicity) will be added in 2012.  In addition, Rhiannon Lloyd of the Institute of Zoology, Regent's Park, London described potential improvements to DNA barcoding techniques to confirm the species of biobanked amphibian samples. Finally, Sophie Siest of Université de Lorraine, France, reported on the influence of pre-analytical variables on VEGF-A level, which is a predictive biomarker for response to treatment in chronic inflammatory diseases. Results showed that the VEGF-A level depends on a number of factors, including the type of anticoagulant used, the number of freeze-thaw cycles and storage time before centrifugation. This study illustrates the fact that biospecimen research can have direct clinical value.

New technologies

A number of abstracts describing interesting new technologies were chosen for oral presentation and these included two presentations on solutions for ambient temperature storage. Rolf Muller of Biomatrica described products that can be used for collection and transport of saliva, blood and tissue biopsies at ambient temperature. These are simple to use, allow faster sample collection and result in less expensive shipping. He also described products for the dry storage of blood, purified DNA and purified RNA and showed results that indicate that high quality DNA in blood samples can be preserved for up to 10 years.

Anne-Lise Fabre of Imagene described another ambient temperature storage technology for biobanking of RNA. In aqueous solution, RNA degrades as a result of trans-esterification, hydrolysis and oxidation reactions. To prevent this, RNA can be desiccated in the presence of a stabilizer, and then stored in an anoxic and anhydrous atmosphere using a product called RNAshell. The RNA Integrity Number (RIN) value of RNA stored in this way is high enough for most common assays, even after simulated storage for 100 years at ambient temperature. Any RNA degradation that does occur in RNAshells appears to be random, so long-term storage will not result in analytical bias.

Jorge de Dios of Cryoxtract spoke about an automated frozen sample “aliquotter” which allows critical samples to be disseminated without exposure to repeated freeze-thaw cycles. The equipment is designed to extract uniformly-sized frozen cores of approximately 100 microlitres. Advantages of this technique include the fact that samples can be stored in a small number of large aliquots, which reduces freezer space requirements.

Johann van Niekerk of Brooks Life Science Systems described an automated vision or image analysis for auditing sample volume in tubes. It is a no-contact, high throughput technique and can also be used to detect precipitate.

Anthony Green of Illumina described the wide range of equipment available for sequence analysis and arrays, including next-generation GWAS arrays which provide high genomic coverage and high sample throughput. He also explained how phenome-wide association studies, using a genotype database coupled with electronic medical records, can be used to identify multiple genomic traits associated with a variety of diseases. This non-hypothesis driven approach is cost-effective and may become an important model for biobank research.

Challenges and opportunities in the provision of biospecimens for clinical trials

It is of utmost importance that biobank curators and personnel better understand their customers' needs, particularly in relation to clinical trials.

Christian Bréchot of Institut-Mérieux, Lyon, France, provided a view of industry's needs. The combined development of new therapeutic agents along with biological tools to predict or monitor efficacy and safety (“biomarkers”) creates a need for collections of well-annotated samples that are representative of accurately defined groups of patients; these collections must be made accessible rapidly in order to minimize costs and increase the likelihood of positive results that will support a claim for marketing authorization. He stated that research and development must now increasingly involve public-private partnerships that associate industry, hospitals and biobanks; such collaborations must allow bi-directional information flow in order to be effective.

Peter Doran of University College Dublin Clinical Research Centre (CRC) then provided a view from the clinical and biobank perspective. He illustrated how important it is that biobanking be planned and integrated as an essential component of an academic research program that encompasses several medical and biological disciplines. The CRC has partnerships with 15 or more companies, including Abbott Diagnostics with which it has a 5 year umbrella agreement that includes a biomarker validation laboratory. He also described plans for the Irish national biobank infrastructure.

Hans-Peter Deigner of Fraunhofer Institute IZI/EXIM, Rostock, Germany, described how transcriptomics and metabolomics approaches have identified promising biomarkers for the clinical condition of sepsis. In transcriptomics, amplification may introduce errors; thus, standardized pre-analytics and quality control are essential. In metabolomics, biopreservation protocols are likely to be very important and it seems that storage at minus 80°C is not sufficient. In combination with transcriptomics, metabolomics should help identify functionally relevant pathways for further studies.

Hartmut Juhl of Indivumed and Inostics GmbH, Hamburg, Germany illustrated how the company that he heads addresses the issue of human resources for tissue biobanking. By working in close collaboration with hospitals and clinics, Indivumed can provide trained personnel and all necessary equipment to rapidly collect tissues obtained in the operating room, following evaluation by the pathologist. He explained that DNA-based biomarkers detected in serum are robust, but may lack predictive value (i.e., responsiveness to therapy). Phosphoprotein biomarkers on the other hand are much less robust, but they allow understanding of tissue complexity and improve prediction. Processing tissues as soon as possible after their collection is of utmost importance for the preservation of such biomarkers. Indivumed's organizational structure provides an alternative to the usual pattern in which the same team of pathologists/biologists must simultaneously care for the patient and contribute to the biobanking efforts.

Philippe Van der Hofstadt of B&C Group, Mont-St-Guibert, Belgium described the operation and set up of a Clinical Trial Biorepository remote from the sample collection site and providing hands-on advice. He stressed the importance of collection kits, specific to individual clinical trials together with illustrated flow charts to help standardize collection at different sites. He also described commercially available tracking equipment including mobile phone, GPS and temperature monitoring technology to provide a complete audit trail for sample shipments.

Integrating research biobanking with the provision of healthcare services

Biobanks play a pivotal role in healthcare as a key resource to enable identification of potential new biomarkers for future diagnostic, prognostic and theranostic use. Michael F Christman's talk provided insights into the way healthcare consumers of the future will be able to access and manage their genetic test results. He described a project called the Coriell Personalized Medicine Collaborative (http://cpmc.coriell.org/) which is studying use of genome informed medicine in more than 6,000 participants and aims to find correlations in observational data as well as the best mechanism to provide information to patients. He mentioned the “informed cohort concept” whereby participants are only informed of results that are potentially actionable.

Christian Chabannon of Institut Paoli-Calmettes, Marseille, France, then illustrated with a couple of examples, why it is still so difficult to identify significant collections of high-value biological resources for cancer research, in the context of changes in medical practice like screening and earlier diagnosis of cancer, use of minimally invasive procedures, sub-classification of cancers, and use of neoadjuvant chemotherapy. He talked about key factors for the success of a tumour bank, including the importance of involving stakeholders, more efficient use of informatics, optimizing used of biomaterials (e.g., favoring the use of derivatives, especially replicable derivatives) and the need to network tumor banks.

Peter Riegman of the Erasmus Medical Centre, Rotterdam, The Netherlands, showed how the EurocanPlatform project has identified new hurdles and possible solutions to share biobanked samples for medical research within a European infrastructure for translational cancer research. Important issues include minimal demands on access rules, which should include rules for external access rules that are described in a publicly available document. In addition, the equal need for sample and data quality, and the often unknown opportunities that can lead to synergistic co-operations were described.

Rivka Ravid of Brain Bank Consultants, Amsterdam, The Netherlands, reviewed the different pitfalls when using post-mortem human specimens in research. She described the different methodological and regulatory guidelines for collection of post-mortem brain samples. Key features she described for brain banking include a well established local donor system and a system for rapid autopsies.

Finally, Roger Bjugn of Oslo University Hospital in Norway explained why adequate stakeholder engagement is critical to avoid project failure in the biobanking field. He defined a stakeholder as a “person, group, or organization that affect or can be affected by the planned action(s)”. He described the five elements of stakeholder analysis which are identification, attributing values, prioritization in terms of power and interest, then engagement and monitoring. The highest level of engagement is stakeholder control, and other important forms include partnership, collaboration and involvement. He also identified “hidden agendas” as a major cause of problems in stakeholder engagement.

Ethical, legal and social issues presented by the advent of personalized medicine

Biobanking for medical research requires voluntary sample donations from patients and other members of the general public and for this reason it is most important that the value of biobanking is widely understood. However, as explained by Herbert Gottweis of the University of Vienna, Austria, this does not appear to be the case. According to the 2010 Eurobarometer study, most Europeans say they have not heard of biobanks. Additional focus group studies showed that in different European countries, the level of knowledge about biobanking correlates with willingness to participate, which supports the need to educate patients and the general public about biobanking. Overall, the results show that the European society is very heterogeneous in its attitudes to biobanking–related issues. For example, people from northern European countries tend to be more supportive of broad consent, while people from eastern European countries tend to be less supportive. Understanding such national differences will be necessary in order to design context-sensitive governance mechanisms.

Marianna Bledsoe of the US Department of Veterans Affairs described how dramatic advances in genetics and informatics have stimulated new thinking on legal and ethical issues in the biobanking field. There are concerns that broad consent cannot be truly informed, while at the same time, there is a growing awareness that consent “can't do all the work.” Alternatives to informed consent need to be explored. For example, notification with opt-out, coupled with greater education of participants and the public. Attention must also be given to demonstrating transparency and reciprocity, understanding participant perspectives, encouraging participant engagement (including web-based approaches) and ensuring effective governance of biobanking.

Elena Salvaterra of the Scientific Institute E. Medea, Bosisio Parini, Italy gave a presentation on the unique ethical and legal issues associated with biobanking of pediatric samples, given the vulnerability of the donors. Results of a survey in 10 European countries showed that consent to pediatric biobanking is usually obtained from parents; minors are often invited to take part in decision making, but minors are rarely recontacted on reaching maturity. Samples and data are most often reversibly anonymized and any clinically relevant results are usually returned to parents or parents and children when they are mature enough to understand. The need for unique regulations to cover pediatric biobanking was underlined.

For some patients and patient groups, support for biobanks goes beyond sample donation. Some go as far as establishing biobanks themselves. Filippo Franchini of the Italian Association for Alternating Hemiplegia (A.I.S.EA Onlus), Verderio Superiore, Italy, described the establishment in 2001 of a biobank and clinical registry for Alternating Hemiplegia which is a rare disease with about 500 cases worldwide. The biobank and registry now contain samples and data from about 40 patients. A proposal has been put forward for a European network of Alternating Hemiplegia biobanks and registries, based on the Italian model, which will provide researchers with access to a larger number of cases.

Simone Sommer of Sommer Health Consulting Services, North Carolina, USA, explained how within a 3 year period she developed an international research program for another rare disease: chordoma, which is a primary bone cancer of the spine and skull that affected her only child. Her approach was very pro-active and patient-centric. She proceeded to identify, collect and validate cell lines, then send them out to all interested researchers. A centralized tissue bank was established, tissue samples were actively distributed and research results were collected centrally. A series of conferences were organized and as a result, clinical trials were started. In addition, the Chordoma Foundation was established in 2007, to unite stakeholders, including patients, researchers, doctors and funding agencies. In conclusion, one point that was stressed was that biobanks in any field of research must not become “BioVaults” where there is limited access. For maximum patient benefit, there must be dynamic, active deposit and withdrawal of samples coupled with data sharing.

Special session on controversies in biobanking: The Bio-PIN: A tool that can solve biobanking problems

J.J. Nietfeld of University Medical Center Utrecht gave a presentation (also on behalf of J.E. Litton) raising a number of interesting questions regarding the need for robust identification of individuals who contribute to biobanks by donating “their” specimens and personal medical data. The presenters previously published their proposal of setting up a unique identifier that is based on the nonreversible coding of biological characteristics. The encoded information can be returned to the donor, who can use it as a unique but anonymous identifier to communicate with the biobank and further contribute to the biobank through the update of medical or behavioral information and by signing additional consents for studies that were designed after specimen collection. The proposal raises a number of questions that were discussed with the audience after the presentation. For example, what is the objective need for a universal, unique identifier? Our modern lifestyle makes it likely that the same individual will receive healthcare at multiple hospitals during their lifetime, and may be asked to deposit their tissues and data in several biobanks. Currently used identifiers may be unique to the same hospital, or in some cases multiple hospitals belonging to the same institution. The Bio-PIN is somewhat paradoxical in that it is generated through the use of biological and thus identifying and highly-sensitive information, while relying on an encryption technology that “de-identifies” the code. This raises several questions: Is it acceptable to use personal biological data to generate a unique identifier? Also, what advantages does such a technology have compared with a randomly generated identifier that follows a universal format and carries no meaning? The proposal postulates that individuals will remember their past donation and take the initiative to contact the biobank through a secured access to its website. Provided that they do, how reliable will be the information delivered by individuals/patients to the biobank? Experience in clinical research amply demonstrates that “raw data”, either collected from medical records or obtained through clinical research forms, must be carefully monitored before it can be exploited and analyzed. Finally, there is the question of how likely is it that individuals/patients will adopt such an active role in biobanking? The Bio-PIN is a novel approach for coding biobank specimens. However, there are a number of privacy, scientific and feasibility issues that remain to be addressed. The authors of the Bio-PIN proposal are planning pilot studies to address these issues.

Challenges and opportunities for museum biobanks

Over millions of years of evolution, all the different forms of life on earth have acquired the genetic constitution necessary to cope with a vast range of living conditions and pathogens. Consequently the genetic information contained across the “tree of life” holds many vital clues to problems in biology and medicine.

Ole Seberg of the Natural History Museum of Denmark, started the session with a talk entitled “Towards a New Paradigm in Natural History Collections”. He explained how it has become imperative to preserve and characterize genomic-quality samples from as many species as possible, given the high value of genetic information they contain. The total number of species on earth has been estimated to be close to 14 million, whereas the NCBI databases only contain molecular data on approximately 1% of these. The Smithsonian Institution's “Global Genome Initiative” (GGI) is an ambitious project aimed at improving this situation and has already gained global support from leading natural history collections. A key component of GGI is an initiative called “Global Genome Biodiversity Network” (GGBN), which has the immediate challenges of deciding which species to target, assessing existing biorepositories and their quality standards, establishing a global internet platform and addressing the Nagoya Protocol.

Jacqueline Mackenzie-Dodds of the Natural History Museum, London reported on biobanking initiatives in this institution. She explained that one key objective of the museum is to maintain collections as a relevant and comprehensive research infrastructure of world importance and that new priority areas include high quality ‘genome ready’ tissue collections for molecular analysis. The central biorepository facility on the South Kensington site includes a mixture of storage methods: ambient, +4°C, −20°C, −80°C, and liquid nitrogen. The total biorepository capacity is about 2 million samples.

Dominik Lermen of the Fraunhofer-Institute in Germany described the CRYO-BREHM project which aims to preserve viable cells for as many vertebrate species as possible. Viable cells are stored because they contain epigenetic information, together with the genetic information in DNA. They can also be expanded to provide an unrestricted source of biological materials for research and can be induced to differentiate into a variety of cell types. Primary somatic cells are isolated from skin, placenta, pancreas and other glandular tissues of adult animals and to date viable cells from more than 100 different species have been preserved.

While the human species has passed the 7 billion population landmark, other species have been less successful. For example, over the past two decades extinctions and dramatic declines in the populations of many amphibian species have been noted all over the world. If and when conservation efforts fail to prevent the extinction of species, then it is vitally important that we at least retain the information that they contain, in the form of viable cells, extracts or molecular data. Natural history collections must include professional biobanks, in order to ensure this.

Challenges and opportunities for environmental specimen banks (ESBs)

In this era of pollution and global warming, ESBs are increasingly needed to monitor our environment. Jan Koschorreck of the German Environment Agency explained that ESBs are archives for samples that can be used to document and assess the quality of the environment we live in. The oldest ESBs date back to the 1960s and 1970s. The archived samples enable retrospective analyses of substances which were not yet known, or could not be analyzed, or were not considered to be important at the time of sampling. ESB time trend and spatial data can be used as basis for political measures including banning of pollutants with accumulation potential e.g. DDT, Lindane (pesticides), tributyltin (biocide), polybrominated diphenylethers and phthalates (industrial chemicals) – just to name a few.

Heinz Ruedel of the Fraunhofer-Institute for Molecular Biology and Applied Ecology gave a presentation on the German Environmental Specimen Bank which started sampling in 1985. Types of sampling areas include: ecosystems close to conurbations, riverine, marine, forestry, agrarian, and nearly natural terrestrial ecosystems. Kilogram amounts of diverse samples (eg. soil, water, bird eggs, tissue) are collected and after cryomilling and homogenization, multiple subsamples are prepared and stored in LN2. Standard operating procedures can be seen at www.umweltprobenbank.de. The standardized collection of samples allows differences in the concentration of “compounds of concern” to be detected more readily and reliably.

Elisabeth LeClerc and Olivier Donard of the University of Pau, France, explained that environmental specimen banking initiatives in France are relatively recent. They include the “Observatoire de Recherche sur la Qualité de l'Environnement” (ORQUE) which is focused on the long term preservation of specimens from coastal and estuarine ecosystems. Also, the “Observatoire Pérenne de l'Environnement” (OPE) projects, which is primarily targeted at storing samples representing the global food chain in ecosystems adjacent to the new French nuclear waste repository. The two initiatives will synergize in terms of storage, analytical capacity and academic partnership.

ESBs collect biological samples (e.g., algae, fish, bird eggs, tissue, and serum) as well as samples that are not necessarily biological (e.g., soil and sediments). The samples are often intended to monitor chemical exposure rather than being used for effects-directed analysis. Nevertheless, as the talks in this session illustrate, many of the concerns and issues faced by ESBs are similar to other biobanks. For example: the need for long-term funding support, professional standards, and improved technologies (e.g., freezers, databases, LIMS, automation, etc). Clearly there is much to be gained by continuing dialog between ESBs and other biobank types.

Networking of veterinary biobanks

In the field of human medicine, the networking of biobanks is well advanced but in the veterinary field such networking is at a very early stage.

Maura Ferrari of Istituto Zooprofilattico Sperimentale della Lombardia e dell'Emilia Romagna - IZSLER – Brescia, is focused on collections of different types of animal pathogens (microrganisms, viruses), pathological tissue samples, serum samples, nucleic acids and cell cultures. The biobank is managed using a standardized software system and quality controls are performed on some biological resources (viruses, eubacteria, cell cultures). Furthermore, in the near future, an ISO 9001 2008 quality assurance system will be applied.

Ingrid Walter of the University of Veterinary Medicine, Vienna described the VetBiobank which is a tumor bank for various species including dog, cat, mouse, rat, guinea pig, horse, goat, cow, pig, and ferret. Samples are stored in a variety of formats including frozen and fixed. She reported that there is limited availability of adequately annotated and collected biospecimens in the veterinary field and proposed plans to establish a European Network of Veterinary Biobanks.

Tomasz Stadejek of the National Veterinary Research Institute, Pulawy, described a collection of tissue and serum samples that have been used for phylogenetic analysis of the Porcine Reproductive Respiratory Syndrome Virus. This syndrome is responsible for heavy economic losses in swine herds all over the world. Two genotypes of the virus are recognized (one in Europe and the other in North America). The purpose of these analyses is to try to understand the origin of this virus and to improve knowledge about its high genetic variability.

Michal Fabisiak of the Faculty of Veterinary Medicine, Warsaw, dealt with the collection of wild life animal samples with the purpose to detect pathogens, to evaluate their prevalence as well as to investigate on their zoonosis potential risk. The major problems are related to difficulties in obtaining reliable samples.

The main conclusion from this session was that the field of veterinary biobanking could greatly benefit from increased collaboration. This can begin with and exchange of protocols and related software between the presenters in this session. The ultimate goal might be to create an animal biobank network.