Survey of Biobanks at a Swiss University Hospital

Human biobanks are a valuable source of biospecimens and personal data to be used for research. Little is known of how many biobanks exist at a given Swiss University Hospital. The purpose of this survey conducted at the CHUV hospital ( >40'000 patients hospitalized per year) and the faculty of biology and medicine (FBM) at the University in Lausanne, Switzerland was a) to provide an overview of the number of biobanks, b) to assess their purpose and size, c) to determine the kinds of biospecimens collected and d) to analyse the extent to which the biobanks follow the Swiss Academy of Medical Sciences (SAMS) guidelines on biobanks

Business models for Finnish biobanks

This study concentrates on developing a suitable business model for Finnish biobanks, with particular emphasis on value creation to stakeholders. The sub-objective of this thesis are to map the commercial possibilities of biobanks and potential barriers for business development. The study approaches the subject from the biobanks’ as well as the stakeholders’ point of view, integrating their hopes and needs considering current and future co-operation into the findings. In 2013 the Biobank Act came into effect, after which six biobanks have been established and several other pending biobank projects are in process. There is relatively little research in regard to the commercial opportunities of this newcomer of the biomedical industry, and particularly in the Finnish markets. Therefore, the aim of this study is to partially fill the research gap of the commercial potential of biobanks and particularly outline the problematic elements in developing business. The theoretical framework consists of a few select theories, which depict business modeling and value creation of organizations. The theories are combined to form a synthesis, which best adapts to biobanks, and acts as a backbone for interviews. The empirical part of the study was conducted mainly by seven face-to-face interviews, and complemented by two phone interviews and an e-mail questionnaire with four responses. The findings consist mainly of the participants’ reflections on the potential products and services enabled by consumer genomics, as well as perceptions on different obstacles for biobanks’ business development. The nature of the study is tentative, as biobanks are relatively new organizations in Finland, and their operation models and activities are still molding. The aim is to bring to surface the hopes and concerns of biobanks’ representatives, as well as the representatives of stakeholders, in order to transparently discuss the current situation and suggestions for further development. The study concludes that in principle, the interviewees’ agree on the need for development in order not to waste the potential of biobanks; regardless, the participants emphasize different aspects and subsequently lean on differing methods.

Business models for Finnish biobanks

This study concentrates on developing a suitable business model for Finnish biobanks, with particular emphasis on value creation to stakeholders. The sub-objective of this thesis are to map the commercial possibilities of biobanks and potential barriers for business development. The study approaches the subject from the biobanks’ as well as the stakeholders’ point of view, integrating their hopes and needs considering current and future co-operation into the findings. In 2013 the Biobank Act came into effect, after which six biobanks have been established and several other pending biobank projects are in process. There is relatively little research in regard to the commercial opportunities of this newcomer of the biomedical industry, and particularly in the Finnish markets. Therefore, the aim of this study is to partially fill the research gap of the commercial potential of biobanks and particularly outline the problematic elements in developing business. The theoretical framework consists of a few select theories, which depict business modeling and value creation of organizations. The theories are combined to form a synthesis, which best adapts to biobanks, and acts as a backbone for interviews. The empirical part of the study was conducted mainly by seven face-to-face interviews, and complemented by two phone interviews and an e-mail questionnaire with four responses. The findings consist mainly of the participants’ reflections on the potential products and services enabled by consumer genomics, as well as perceptions on different obstacles for biobanks’ business development. The nature of the study is tentative, as biobanks are relatively new organizations in Finland, and their operation models and activities are still molding. The aim is to bring to surface the hopes and concerns of biobanks’ representatives, as well as the representatives of stakeholders, in order to transparently discuss the current situation and suggestions for further development. The study concludes that in principle, the interviewees’ agree on the need for development in order not to waste the potential of biobanks; regardless, the participants emphasize different aspects and subsequently lean on differing methods.

Building a 'Repository of Science': the importance of integrating Biobanks within molecular pathology programmes

Repositories containing high quality human biospecimens linked with robust and relevant clinical and pathological information are required for the discovery and validation of biomarkers for disease diagnosis, progression and response to treatment. Current molecular based discovery projects using either low or high throughput technologies rely heavily on ready access to such sample collections. It is imperative that modern biobanks align with molecular diagnostic pathology practices not only to provide the type of samples needed for discovery projects but also to ensure requirements for ongoing sample collections and the future needs of researchers are adequately addressed. Biobanks within comprehensive molecular pathology programmes are perfectly positioned to offer more than just tumour derived biospecimens; for example, they have the ability to facilitate researchers gaining access to sample metadata such as digitised scans of tissue samples annotated prior to macrodissection for molecular diagnostics or pseudoanonymised clinical outcome data or research results retrieved from other users utilising the same or overlapping cohorts of samples. Furthermore, biobanks can work with molecular diagnostic laboratories to develop standardized methodologies for the acquisition and storage of samples required for new approaches to research such as ‘liquid biopsies’ which will ultimately feed into the test validations required in large prospective clinical studies in order to implement liquid biopsy approaches for routine clinical practice. We draw on our experience in Northern Ireland to discuss how this harmonised approach of biobanks working synergistically with molecular pathology programmes is key for the future success of precision medicine.

Biobanks: Experience of the School of Medicine and the “Dr. José Eleuterio González” University Hospital of the Universidad Autónoma de Nuevo León

Medical research has greatly beneited from molecular biology and increasingly relies on tools from the “omics” disciplines (mainly genomics, transcriptomics, proteomics and metabolomics). The availability of biological samples preserved with high quality standards is a sine qua non condition for such studies and their repositories are referred to as biobanks. Biobanks support the transportation, storage, preservation, and initial pathological and analytical examinations of biospecimens, as well as the protection of relevant information and the comparison of clinical and laboratory findings. A biobank facility is one of the most valuable tools the academic medicine organizations can offer to their researchers to improve the competitiveness of their current and future medical research. it acts as an essential bridge and an effective catalyst for research synergies between basic and clinical sciences, and it can be potentiated with efforts to raise funds for acquiring and maintaining cutting-edge analytical infrastructure to better serve its clinical, pharmaceutical and biotech clients.

A conceptualisation of a governance model for biobanks in the digital society

Biobanks are key infrastructures in data-driven biomedical research. The counterpoint of this optimistic vision is the reality of biobank governance, which must address various ethical, legal and social issues, especially in terms of open consent, privacy and secondary uses which, if not sufficiently resolved, may undermine participants’ and society’s trust in biobanking. The effect of the digital paradigm on biomedical research has only accentuated these issues by adding new pressure for the data protection of biobank participants against the risks of covert discrimination, abuse of power against individuals and groups, and critical commercial uses. Moreover, the traditional research-ethics framework has been unable to keep pace with the transformative developments of the digital era, and has proven inadequate in protecting biobank participants and providing guidance for ethical practices. To this must be added the challenge of an increased tendency towards exploitation and the commercialisation of personal data in the field of biomedical research, which may undermine the altruistic and solidaristic values associated with biobank participation and risk losing alignment with societal interests in biobanking. My research critically analyses, from a bioethical perspective, the challenges and the goals of biobank governance in data-driven biomedical research in order to understand the conditions for the implementation of a governance model that can foster biomedical research and innovation, while ensuring adequate protection for biobank participants and an alignment of biobank procedures and policies with society’s interests and expectations. The main outcome is a conceptualisation of a socially-oriented and participatory model of biobanks by proposing a new ethical framework that relies on the principles of transparency, data protection and participation to tackle the key challenges of biobanks in the digital age and that is well-suited to foster these goals.

Perspetivas de casais e de diretores de biobancos face à criopreservação do sangue do cordão umbilical em Portugal

Dissertação de mestrado em Crime, Diferença e Desigualdade

Perspetivas públicas em relação aos biobancos médicos e para investigação científica em Portugal

Dissertação de mestrado em Crime, Diferença e Desigualdade

Research needs in allergy: an EAACI position paper, in collaboration with EFA.

In less than half a century, allergy, originally perceived as a rare disease, has become a major public health threat, today affecting the lives of more than 60 million people in Europe, and probably close to one billion worldwide, thereby heavily impacting the budgets of public health systems. More disturbingly, its prevalence and impact are on the rise, a development that has been associated with environmental and lifestyle changes accompanying the continuous process of urbanization and globalization. Therefore, there is an urgent need to prioritize and concert research efforts in the field of allergy, in order to achieve sustainable results on prevention, diagnosis and treatment of this most prevalent chronic disease of the 21st century.The European Academy of Allergy and Clinical Immunology (EAACI) is the leading professional organization in the field of allergy, promoting excellence in clinical care, education, training and basic and translational research, all with the ultimate goal of improving the health of allergic patients. The European Federation of Allergy and Airways Diseases Patients' Associations (EFA) is a non-profit network of allergy, asthma and Chronic Obstructive Pulmonary Disorder (COPD) patients' organizations. In support of their missions, the present EAACI Position Paper, in collaboration with EFA, highlights the most important research needs in the field of allergy to serve as key recommendations for future research funding at the national and European levels.Although allergies may involve almost every organ of the body and an array of diverse external factors act as triggers, there are several common themes that need to be prioritized in research efforts. As in many other chronic diseases, effective prevention, curative treatment and accurate, rapid diagnosis represent major unmet needs. Detailed phenotyping/endotyping stands out as widely required in order to arrange or re-categorize clinical syndromes into more coherent, uniform and treatment-responsive groups. Research efforts to unveil the basic pathophysiologic pathways and mechanisms, thus leading to the comprehension and resolution of the pathophysiologic complexity of allergies will allow for the design of novel patient-oriented diagnostic and treatment protocols. Several allergic diseases require well-controlled epidemiological description and surveillance, using disease registries, pharmacoeconomic evaluation, as well as large biobanks. Additionally, there is a need for extensive studies to bring promising new biotechnological innovations, such as biological agents, vaccines of modified allergen molecules and engineered components for allergy diagnosis, closer to clinical practice. Finally, particular attention should be paid to the difficult-to-manage, precarious and costly severe disease forms and/or exacerbations. Nonetheless, currently arising treatments, mainly in the fields of immunotherapy and biologicals, hold great promise for targeted and causal management of allergic conditions. Active involvement of all stakeholders, including Patient Organizations and policy makers are necessary to achieve the aims emphasized herein.

Design and establishment of a biobank in a multicenter prospective cohort study of elderly patients with venous thromboembolism (SWITCO65+).

In the field of thrombosis and haemostasis, many preanalytical variables influence the results of coagulation assays and measures to limit potential results variations should be taken. To our knowledge, no paper describing the development and maintenance of a haemostasis biobank has been previously published. Our description of the biobank of the Swiss cohort of elderly patients with venous thromboembolism (SWITCO65+) is intended to facilitate the set-up of other biobanks in the field of thrombosis and haemostasis. SWITCO65+ is a multicentre cohort that prospectively enrolled consecutive patients aged ≥65 years with venous thromboembolism at nine Swiss hospitals from 09/2009 to 03/2012. Patients will be followed up until December 2013. The cohort includes a biobank with biological material from each participant taken at baseline and after 12 months of follow-up. Whole blood from all participants is assayed with a standard haematology panel, for which fresh samples are required. Two buffy coat vials, one PAXgene Blood RNA System tube and one EDTA-whole blood sample are also collected at baseline for RNA/DNA extraction. Blood samples are processed and vialed within 1 h of collection and transported in batches to a central laboratory where they are stored in ultra-low temperature archives. All analyses of the same type are performed in the same laboratory in batches. Using multiple core laboratories increased the speed of sample analyses and reduced storage time. After recruiting, processing and analyzing the blood of more than 1,000 patients, we determined that the adopted methods and technologies were fit-for-purpose and robust.

The role of the pathologist in tissue banking: European Consensus Expert Group Report.

Human tissue biobanking encompasses a wide range of activities and study designs and is critical for application of a wide range of new technologies (-"omics") to the discovery of molecular patterns of disease and for implementation of novel biomarkers into clinical trials. Pathology is the cornerstone of hospital-based tissue biobanking. Pathologists not only provide essential information identifying the specimen but also make decisions on what should be biobanked, making sure that the timing of all operations is consistent with both the requirements of clinical diagnosis and the optimal preservation of biological products. This document summarizes the conclusions of a Pathology Expert Group Meeting within the European Biological and Biomolecular Research Infrastructure (BBMRI) Program. These recommendations are aimed at providing guidance for pathologists as well as for institutions hosting biobanks on how to better integrate and support pathological activities within the framework of biobanks that fulfill international standards.

Pour une utilisation optimale des données personnelles à des fins de recherche : vers un réseau de ressources collectives

Thèse par articles. Articles (4) annexés à la thèse en fichiers complémentaires.

L’encadrement juridique des biobanques populationnelles et leurs obligations au Québec

La mise en banque d’échantillons humains et de données connexes n’est pas une pratique récente. Toutefois, dans les dernières décennies, ce phénomène a pris une ampleur sans précédent avec la création des biobanques populationnelles. Défini comme étant des infrastructures de recherche conçues pour durer plusieurs décennies, ce type de biobanques invite des milliers et, dans certains cas, des centaines de milliers de personnes à y participer en fournissant des échantillons, en se soumettant à des tests physiques et biochimiques, et en répondant à diverses questions sur leur santé et leur environnement sociodémographique. Mais quelles sont les obligations des biobanques et de leurs chercheurs face aux participants? Considérant leur longue durée, quel est l’encadrement juridique de ces biobanques populationnelles au Québec? Ce sont les deux questions que pose ce mémoire. Quant à l’encadrement, nous utilisons trois axes d’analyse : i) les lois, les règlements, la déontologie professionnelle et les normes applicables; ii) la qualification juridique de l’acte de mise en banque d’échantillons et de données; et iii) les obligations découlant de la nature même de l’objet de la relation juridique. Notre analyse révèle que cet encadrement est une mosaïque législative, contractuelle, déontologique et normative qui, malgré ses complexités et ses défis d’accessibilité pour les participants, assure une certaine protection pour ces derniers. Quant aux obligations incombant à la biobanque et à ses chercheurs, elles sont pour la majorité teintées par des caractéristiques particulières aux biobanques populationnelles. Ainsi, il existe des défis particuliers en ce qui concerne notamment le consentement, le devoir d’information, le retour de résultats et la sécurité des échantillons et des données. Étant donné la nature évolutive de ces obligations, nous proposons une approche basée sur le meilleur intérêt du participant pour déterminer la nature et l’intensité des obligations incombant à une biobanque et à ses chercheurs.

Il corpo e l'individuo tra proprietà ed autodeterminazione. Con particolare riferimento al fenomeno delle biobanche

La bioetica è il luogo ideale per cercare risposte ai grandi interrogativi concernenti la vita, la morte e la cura dell'essere umano. I recenti dibattiti sull'uso, ed il temuto abuso, del corpo umano in medicina hanno messo in evidenza la necessità di una discussione approfondita sul potere di scelta che l'individuo può esercitare sulla propria mente e sul proprio corpo. Spinta dal desidero di indagare l'estensione di tale potere di scelta ho voluto analizzare le tematiche riguardanti “il corpo”, “l'individuo”, “la proprietà” e “l'autodeterminazione”. L'analisi è stata condotta individuando alcuni dei differenti significati che questi termini assumono nei diversi ambiti che la bioetica lambisce e mostrando, in particolare, la visione di tale realtà attraverso le lenti del giurista. A chi appartiene il corpo? Chi ha il potere di decidere su di esso? Il potere di scelta valica gli antichi i confini legati al corpo del paziente e coinvolge tessuti, organi e cellule staccati dal corpo umano, parti che un tempo erano considerati scarti operatori sono oggi divenuti tesori inestimabili per la ricerca. L'importanza assunta dai campioni biologici ha portato alla creazione di biobanche nelle quali sono raccolti, catalogati e il DNA studiato in campioni biologici Le biobanche riflettono le tensioni della bioetica e del biodititto. Lo studio delle biobanche riguarda, tra l'altro, la riceca dell'equilibrio tra le diverse esigenze meritevoli di tutela: in primo luogo il diritto alla privacy, diritto a che le “proprie informazioni” non vengano divulgate ed il diritto a non essere discriminato ed in secondo luogo le necessità dettate dalla ricerca e dalla scienza medica. Nel 2009 la rivista Times messo biobanche tra le 10 idee in grado di cambiare il mondo anche in considarazione della medicina personalizzata e del fatto che costituiscono una la speranza per la ricerca contro le malattie attuali e future.