Biobank Project Research Articles

Start-up of a clinical sample processing, storage and management platform: organisation and development of the REDinREN Biobank.

The creation of the Biobank, a resource pertaining to the Spanish Renal Research Network (REDinREN) promotes advances in clinical research on kidney disease in Spain. The Biobank's aims are to generate an archive of clinical samples and associated data, furnish those samples to research teams, and coordinate with European biobanks. Applicable legislation had to be complied with in order to launch the Biobank project (Biomedical Research Law, Data Protection Law and Biological Sample Transport Regulations). A strict work protocol and a new database for the Network's clinical data were also implemented. Over time, the Biobank has acquired additional infrastructure and qualified personnel. In 2010, 2953 new patient samples were collected, giving a total of 37,043 stored vials containing different types of samples. Furthermore, the Biobank is currently participating in eleven research projects. Although the Biobank was originally designed for REDinREN use, we must take joint action to make this biological sample storage system and the many possibilities it offers available to the entire nephrological community with a view to promoting kidney disease research.

Biological scarcity: looking beyond regulatory exteriors in Taiwan

Research and bioethical policies are increasingly seen to facilitate, rather than to impede, scientific progress. Bioethical structures, nonetheless, often fail to account for or to shape the specific social surrounds in which scientific research is conducted. In Taiwan, a perceived shortage in human biological donations threatens to hamper stem cell research progress. This paper considers the stalled national biobank project and the lack of a reliable embryo supply for stem cell research, and suggests that one must look beyond regulatory structures in seeking explanations for such shortages. Specific aspects of Taiwan's democratization and social changes combine with problematic relations between patients and physicians to shape the terrain upon which human biologicals are given or withheld.

Plenary XI Epidemiology and the control of disease in China, with emphasis on the Chinese Biobank (KSCDC) project

As many other developing countries, China now is facing a double burden of disease as a result of epidemiological transition and Non-communicable disease (NCD) will be a major factor (challenge) which caused quality decline of Chinese population health and growth of economic burden in healthcare. In the era of evidence-based medicine and decision making today, as a developing country, China is lack of local scientific evidence. It will affect the effectiveness of NCD prevention and control. In such circumstances and on the basis of decade9s cooperation and trust with the University of Oxford, we have started China9s biobank study Kadoorie Study of Chronic Disease in China in 2004. Kadoorie Study of Chronic Disease in China, an international prospective project, aims to establish the basis of blood-based health database, from the genetic, environmental and lifestyle aspects to deeply study and understand causes, risk factors, pathogenesis, prevalence patterns and trends of major chronic diseases in China (such as stroke, coronary heart disease, cancer, diabetes, hypertension, etc) which endanger health of Chinese population. This study with duration of 15–20 years will also provide scientific evidence for strategy planning of NCD prevention and control, development of new treatment and intervention approach. A total of about 515 000 adults aged 30–79 have been recruited from the general population in 10 geographically defined regions (five rural and five urban) of China, with quite different disease profiles and quite different risk exposures, with extensive data collection by questionnaire, physical measurement and blood sample collection and storage. It is a multi-factor, multi-disease, multi-disciplinary large-scale chronic disease epidemiological study on causes, and is also one of the largest long-term blood-based population cohort studies ever conducted in the world. It is worth mentioning that all gene specimens are kept in China and all associated intellectual property rights are owned by China, which breaks new ground for Chinese and foreign international cooperation. In this presentation, as a principle investigator of this study in China, I will introduce study design, baseline description and main results of this study as far as now for your information.

Biospecimens and People: A Fundamental Connection

This commentary includes the public- and patient-oriented perspective on research biospecimens and the National Cancer Institute's cancer HUman Biobank (caHUB) project. Definitions of biospecimens and the importance to the research community and the public are included, as are conditions that caused the impetus of the caHUB.

Human Lymphoblastoid Cell Lines: a Goldmine for the Biobankomics Era

Biobanking became a necessity for translating genetic discoveries into clinical practice. Approaches to personalized medicine require a new model system for functional and pharmacogenomic studies of a variety of accumulating genetic variations, as well as new research environments such as biobankomics. Human lymphoblastoid cell lines (LCLs) will provide a valuable tool to meet such new demands in the biobankomics era. The National Biobank of Korea (NBK), which is leading the Korea Biobank Project, has a large collection of LCLs derived mostly from population-based cohort samples. Using a special long-term subculture collection of NBK LCLs, biological characteristics of early passage LCLs and terminally immortalized LCLs have been investigated to promote the utilization of LCLs and provide well quality-controlled LCLs for genetic and pharmacogenomic studies. As LCLs have been successfully phenotyped for cytotoxicity in response to various stimulators, including chemotherapeutic agents, environmental chemicals and irradiation, the utility of LCLs will increase in the future. Here, we discuss current and future applications of NBK LCLs for the biobankomics era.

6 TWO DECADES' EXPERIENCE WITH A PROSPECTIVE BIOBANK FOR UROLOGIC ONCOLOGY: EFFECTS ON RESEARCH, CLINICAL CARE AND PATIENT SATISFACTION

You have accessJournal of UrologyGeneral & Epidemiological Trends & Socioeconomics: Evidence-based Medicine & Outcomes I1 Apr 20106 TWO DECADES' EXPERIENCE WITH A PROSPECTIVE BIOBANK FOR UROLOGIC ONCOLOGY: EFFECTS ON RESEARCH, CLINICAL CARE AND PATIENT SATISFACTION Johannes Huber, Esther Herpel, Hildegard Jakobi, Nina Wagener, Boris Hadaschik, and Markus Hohenfellner Johannes HuberJohannes Huber More articles by this author , Esther HerpelEsther Herpel More articles by this author , Hildegard JakobiHildegard Jakobi More articles by this author , Nina WagenerNina Wagener More articles by this author , Boris HadaschikBoris Hadaschik More articles by this author , and Markus HohenfellnerMarkus Hohenfellner More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2010.02.049AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Collection of clinical data and associated tissue samples has become an essential tool for oncologic research. Since 1990 efforts have been ongoing to implement prospective documentation of all oncologic cases in our department accompanied by a special aftercare program ensuring regular visits and reliable data acquisition. METHODS We evaluated our prospective database and reviewed the number of collected tissue samples. To date, a total of 5,150 cases covering all types of urologic malignancies have been included: prostate (36%), renal (33.6%), urothelial (22.9%), testicular (6.3%), penile (0.7%), and other (0.5%). A total of 28,740 documented aftercare visits are characterized by approximately 100 partly disease-specific items. A specialized full-time documentalist supported by three student assistants maintains this database. Our general cancer tissue biobank contains more than 6,000,000 paraffin- and about 8,500 cryo-samples. Starting in 2005, urologic tissue blocks have been supplemented by blood and urine samples. Furthermore, we asked the opinion of 158 patients who attended our clinic for cancer surgery using a self-designed questionnaire. RESULTS Of 158 patients asked to be included in the biobank over a 6-month period none refused. Their additional questionnaire had a return rate of 81% (n=128). Moral obligation for supporting medical research was realized by 94.5%, and circumstantial pressure to participate was not a relevant factor for 87%. Whereas only 68.2% were hoping for personal benefit, altruism seemed to be a much stronger motive: 96.4% believe others could be healed due to further medical progress. 93.4% wanted to be actively informed about recommended aftercare visits. Consequentially, response rates in the “Heidelberg Cancer Maintenance Program” are constantly high above 95%. Regarding research, a total of 106 scientific enquiries have been answered using our database since 1995. Moreover, 14 manuscripts published since 2006 originated from our biobank data: Herein, molecular markers and risk factors have been correlated with clinical outcome. Additionally, TNM-validation studies were conducted. CONCLUSIONS Prospective collection of clinical data and corresponding tissue has become an indispensable research tool in oncology. In general, patients do not object tissue banking and embrace special aftercare programs. Relying on our experience an interdisciplinary biobank project was started in 2005 at the National Center for Tumor Diseases in Heidelberg. Heidelberg, Germany© 2010 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 183Issue 4SApril 2010Page: e3 Advertisement Copyright & Permissions© 2010 by American Urological Association Education and Research, Inc.MetricsAuthor Information Johannes Huber More articles by this author Esther Herpel More articles by this author Hildegard Jakobi More articles by this author Nina Wagener More articles by this author Boris Hadaschik More articles by this author Markus Hohenfellner More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...

The UK Biobank sample handling and storage validation studies

and aims UK Biobank is a large prospective study in the United Kingdom to investigate the role of genetic factors, environmental exposures and lifestyle in the causes of major diseases of late and middle age. It involves the collection of blood and urine from 500 000 individuals aged between 40 and 69 years. How the samples are collected, processed and stored will have a major impact on the future scientific usefulness of the UK Biobank resource. A series of validation studies was recommended to test the robustness of the draft sample handling and storage protocol. Samples of blood and urine were collected from 40 healthy volunteers and either processed immediately according to the protocol or maintained at specified temperatures (4 degrees C for all tubes with the exception of vacutainers containing acid citrate dextrose that were maintained at 18 degrees C) for 12, 24 or 36 h prior to processing. A further sample was maintained for 24 h at 4 degrees C, processed and the aliquots frozen at -80 degrees C for 20 days and then thawed under controlled conditions. The stability of the samples was compared for the different times in a wide variety of assays. The samples maintained at 4 degrees C were stable for at least 24 h after collection for a wide range of assays. Small but significant changes were observed in metabonomic studies in samples maintained at 4 degrees C for 36 h. There was no degradation of the samples for a range of biochemical assays after short-term freezing and thawing under controlled conditions. Whole blood maintained at 18 degrees C for 24 h in vacutainers containing acid citrate dextrose is suitable for viral immortalization techniques. The validation studies reported in this supplement provide justification for the sample handling and storage procedures adopted in the UK Biobank project.

The Danubian Biobank Initiative: synchronizing the biobanking activities of the Danube universities

Aging disorders pose an increasing challenge for the public health care systems in Europe. An important approach to cope with this task is the identification of relevant novel disease genes and the control of risk factors using new technological capabilities. A key element in this process is the availability of well classified, large enough patient cohorts and the establishment of quality-controlled central banks for DNA, serum, plasma, and cells/tissues/RNA/proteins together with the development of an IT based infrastructure to provide samples and data required for biomedical studies. The Danubian Biobank initiative connects universities, associated teaching hospitals and endpoint-related rehabilitation clinics along the Danube river and in neighbouring regions. The scientific network focuses on diabetes-related endpoints, vascular disease (e.g. myocardial infarction, stroke, arterial thrombosis, kidney failure), metabolic disease (e.g. obesity, diabetes, metabolic syndrome), and neurodegenerative disorders (e.g. dementia syndromes, Parkinsonism). Task forces are set up for the relevant topics of the biobank project including patient recruitment, sample and data management, public health, epidemiology and genetics, enabling technologies, and research strategies. The project aims to select the most relevant and promising scientific targets utilizing the core competences developed in the individual partner institutions. For this purpose a series of dedicated workshops and conferences are organized as well as joint research grant proposals are submitted.

P1-118 Childhood growth and adulthood cognition in a rapidly developing Southern Chinese population: the Guangzhou Cohort Biobank Project Study

P1-118 Childhood growth and adulthood cognition in a rapidly developing Southern Chinese population: the Guangzhou Cohort Biobank Project Study

From cradle to grave [UK Biobank project

An ambitious project to track the health of half a million UK citizens over a period of 30 years will rely on equally ambitious automation systems that can last the distance in temperatures of down to -80°C. The UK Biobank project will take blood samples from half a million people and then separate each sample into six components that can be stored separately in phials with 2D barcodes.

Establishing a Neurological-Psychiatric Biobank: Banking, informatics, ethics

The recent development of genetic databases and biobanks in a number of countries reflects scientist’s beliefs in the future health benefits to be derived from genetic research. The NEPSYBANK is a national program of the Hungarian Clinical Neurogenetic Society with comprehensive participation of the Neurology and Psychiatry Departments of Medical Universities and the National Institute of Psychiatry and Neurology. The NEPSYBANK forms a part of the national biobank project ( www.biobank.hu). The goal is to establish nationwide collaboration and common biobanking standards on quality, access, and protection of integrity in the field of neurology and psychiatry. Biological materials and databases are already collected in stroke, epilepsy, multiple sclerosis, motoneuron diseases, dementia, movement disorders, schizophrenia, and alcohol addiction. In peripheral neuropathies, neuropathic pain syndromes, muscle diseases, migraine, myasthenia gravis, depression, panic disease, anxiety, autism, and software development is in progress. The resources have been expanded by continued prospective collection of samples and data and important bottlenecks in sample purification, sample retrieval, in protection of the integrity of the research participants, as well as in guaranteeing the security and confidentiality of the participant’s information have been harmonized. The development of uniform consent management, comprehensive sample overview and quality standards for health care-related biobanking may provide a unique opportunity for Hungary in molecular clinically oriented research. The program is a diseased-based research biobank with comprehensive collection of phenotypic and environmental information as well as biobanking of DNA, RNA or buffy coat, plasma, and erythrocytes stored at −80 °C. The biobank has a neuropathological part as well: storing conventional pathology and biopsy specimens. The analytical and informational demands being created by biobanking requires a “connectivity of community” that has not traditionally been present in the life sciences. As you put more resources into something, your silos tend to become taller, and we need to avoid this. The life science and healthcare community should be ignored working in individual “silos.”

The Impact of Multifactorial Genetic Disorders on Critical Illness Insurance: A Simulation Study Based on UK Biobank

The UK Biobank project is a proposed large-scale investigation of the combined effects of genotype and environmental exposures on the risk of common diseases. It is intended to recruit 500,000 subjects aged 40-69, to obtain medical histories and blood samples at outset, and to follow them up for at least 10 years. This will have a major impact on our knowledge of multifactorial genetic disorders, rather than the rare but severe single-gene disorders that have been studied to date. What use may insurance companies make of this knowledge, particularly if genetic tests can identify persons at different risk? We describe here a simulation study of the UK Biobank project. We specify a simple hypothetical model of genetic and environmental influences on the risk of heart attack. A single simulation of UK Biobank consists of 500,000 life histories over 10 years; we suppose that case-control studies are carried out to estimate age-specific odds ratios, and that an actuary uses these odds ratios to parameterise a model of critical illness insurance. From a large number of such simulations we obtain sampling distributions of premium rates in different strata defined by genotype and environmental exposure. We conclude that the ability of such a study reliably to discriminate between different underwriting classes is limited, and depends on large numbers of cases being analysed.

The Impact of Multifactorial Genetic Disorders on Critical Illness Insurance: A Simulation Study Based on UK Biobank

The UK Biobank project is a proposed large-scale investigation of the combined effects of genotype and environmental exposures on the risk of common diseases. It is intended to recruit 500,000 subjects aged 40-69, to obtain medical histories and blood samples at outset, and to follow them up for at least 10 years. This will have a major impact on our knowledge of multifactorial genetic disorders, rather than the rare but severe single-gene disorders that have been studied to date. What use may insurance companies make of this knowledge, particularly if genetic tests can identify persons at different risk? We describe here a simulation study of the UK Biobank project. We specify a simple hypothetical model of genetic and environmental influences on the risk of heart attack. A single simulation of UK Biobank consists of 500,000 life histories over 10 years; we suppose that case-control studies are carried out to estimate age-specific odds ratios, and that an actuary uses these odds ratios to parameterise a model of critical illness insurance. From a large number of such simulations we obtain sampling distributions of premium rates in different strata defined by genotype and environmental exposure. We conclude that the ability of such a study reliably to discriminate between different underwriting classes is limited, and depends on large numbers of cases being analysed.

Approaching the shared biology of obesity and depression: the stress axis as the locus of gene–environment interactions

Obesity and depression are serious public health problems and also constitute cardiovascular disease risk factors. Research organizations have called for efforts to explore the interrelationship between obesity and depression. A useful starting point is the fact that in both disorders there is dysregulation of stress systems. We review molecular and clinical evidence indicating that the mediators of the stress response are a key locus for gene-environment interactions in the shared biology of depression and obesity. Scientific milestones include translational paradigms such as mice knockouts, imaging and pharmacogenomic approaches that can identify new therapeutic strategies for those burdened by these two afflictions of contemporary civilization. Perspectives for the future are promising. Our ability to dissect the underpinnings of common and complex diseases with shared substrates will be greatly enhanced by the Genes and Environment Initiative, the emerging Large Scale Studies of Genes and Environment in Common Disease, and the UK Biobank Project.

Consent and anonymization in research involving biobanks: differing terms and norms present serious barriers to an international framework.

Biological samples—such as tissues, blood and cells—are an increasingly important tool for research into human diseases and their genetic and physiological causes. To ease their storage and access, many of these samples are now stored in biobanks. The number of human biological samples in such collections amounted to several hundred million in 1999 in the USA alone—about one sample per US citizen (Eiseman, 2000; Azarow et al , 2003)—and is increasing rapidly. Three‐quarters of the clinical trials that drug companies submit to the US Food and Drug Administration (Rockville, MD, USA) for approval now include a provision for sampling and storing human tissue for future genetic analysis (Abbott, 2003). At the same time, there is a boom of population biobanks, as more and more countries establish new sample collections (Kaiser, 2002). Among the best known are: the Icelandic Health Sector Database; the Estonian Genome Project; the UK Biobank; the CARTaGENE Project in Quebec, Canada; the Banco Nacional de ADN in Spain; the International HapMap Project; and several US biobanks, such as the National Children's Study, the Marshfield Clinic's Personalized Medicine Research Project and the National Health and Nutrition Examinations Surveys. ![][1] This boom of biobanks has spawned a ‘boomlet’ of regulations and guidelines, which has created controversies, particularly about the importance and definition of informed consent. The consent of participants is usually required before biobank samples can be used in research, but the nature of this consent, and how it is obtained, vary widely. Many European guidelines take the view that general consent is acceptable to use samples for future, as yet unspecified, research projects; US and Canadian policy follows a more rigorous standard of consent. Until 2004, both Europe and the USA considered coded and linked anonymized samples—in which a code links the sample to its donor—as identifiable and therefore … [1]: /embed/graphic-1.gif

Expression genetics and the phenotype revolution

Genetic analysis of variation demands large numbers of individuals and even larger numbers of genotypes. The identification of alleles associated with Mendelian disorders has involved sample sizes of a thousand or more. Pervasive and common diseases that afflict human populations--cancer, heart disease, diabetes, neurodegeneration, addiction--are all polygenic and are even more demanding of large numbers. DeCode Genetics (http://www.decode.com) has harnessed the human resources of Iceland to unravel genetic and molecular causes of complex disease. The UK BioBank project (http://www.ukbiobank.ac.uk/) will incorporate 500,000 adult volunteers. The murine Collaborative Cross is the experimental equivalent of these human populations and will consist of a panel of approximately 1000 recombinant strains, expandable by intercrossing to much larger numbers of isogenic but heterozygous F(1)s. Massive projects of these types require efficient technologies. We have made enormous progress on the genotyping front, and it is now important to focus energy on devising ultrahigh-throughput methods to phenotype. Molecular phenotyping of the transcriptome has matured, and it is now possible to acquire hundreds of thousands of mRNA phenotypes at a cost matching those of SNPs. Proteomic and cell-based assays are also maturing rapidly. The acquisition of a personal genome along with a personal molecular phenome will provide an effective foundation for personalized medicine. Rodent models will be essential to test our ability to predict susceptibility and disease outcome using SNP data, molecular phenomes, and environmental exposures. These models will also be essential to test new treatments in a robust systems context that accounts for genetic variation.

Huge Biobank project launches despite critics

Huge Biobank project launches despite critics

Pioneers in medicine.

Small countries are taking big steps towards improved genetics-based research and health care with the creation of population databanks

Pioneers in medicine

Sometimes revolutions begin in the most unlikely of places. Iceland is a piece of volcanic rock in the middle of the Atlantic Ocean, inhabited by less than 300,000 people. Estonia is now the easternmost outpost of the European Union, after an overwhelming majority of its people voted on 14 September to join the EU. The country only gained its independence from the former Soviet Union in 1991, and the consequences of Soviet rule are still reverberating. But both countries are leading the way in the next revolution in medicine by establishing DNA and health databases of their populations, something that most larger countries have not yet begun to consider. “Many people are talking about population genetics, but you in Estonia are doing it,” said John Norton, Director and CEO of the UK Biobank Project, at the Gene Forum 2003 conference in Tartu, Estonia, this September. In fact, it seems to be easier for smaller countries, such as Iceland and Estonia, to go ahead with such initiatives. “Establishing a database is of course easier in Estonia with its small population [of 1.4 million people],” agreed Arvo Tikk, chairman of the Ethics Committee of the Estonian Genome Project (EGP) Foundation, not only for logistical reasons but also because it is easier to convince the public, and to adapt the laws and regulations. As of mid‐September, deCODE, the private company that is operating the Icelandic genome and health databases, had collected genetic data for more than 100,000 Icelanders. The EGP finished its pilot phase in March this year and since then has collected biological samples and health data from more than 4,000 Estonians. The aim of both projects is the same, but the similarities end there. deCODE is a high‐tech company based in Iceland's capital, Reykjavik, with more then 600 employees and state‐of‐the‐art …

UK Biobank: a project in search of a protocol?

Before it has even begun recruiting participants, the UK Biobank project has raised extraordinary passions among scientists. Some scientists are broadly supportive of the project, and feel that it is a scientifically valid, potentially valuable resource, although they still have reservations over the details of the current protocol. Others see it as an ill-conceived, politically motivated project, in which consultations have only been done to give an appearance of legitimacy and in which the scientific case has not been made for its design. There has been resentment over how the protocol has evolved, and the secrecy and legal constraints that surrounded the process for groups bidding to be involved has had the appearance of attempting to stifle debate. For this article even supporters of the project have been unwilling to be quoted on the record. The only point that everyone seems to agree on is that sufficient debate about the project has not taken place.