A biobank is a physical place which stores biological specimens. In some cases, participant data is also collected and stored. Access policies details may vary across biobanks but generally involve obtaining ethics approval from institutional review boards (IRB) and scientific review or peer review approval from the institutions under which the biobanks operate as well as Ethics approval from the institutions where the research projects will be undertaken. The samples and data are safeguarded so that researchers can use them in experiments deemed adequate. This article contains a list of biobanks.[ citation needed ]
Biobanks can be classified in several ways. Some examples of how they can be classified is by their controlling entity (government, commercial enterprise, or private research institution), by their geographical location, or by what sorts of samples they collect.
Biobanks may be classified by purpose or design. Disease-oriented biobanks usually have a hospital affiliation through which they collect samples representing a variety of diseases, perhaps to look for biomarkers affiliated with disease. [1] Population-based biobanks need no particular hospital affiliation because they sample from large numbers of all kinds of people, perhaps to look for biomarkers for disease susceptibility in a general population. [2]
List of biobanks | ||||||
Biobank | Affiliation | Focus | Type | Location | Founding | Notes |
---|---|---|---|---|---|---|
All of Us | Population | non-profit | United States | |||
Autism Genetic Resource Exchange | Autism Speaks | Autism | non-profit | North America and Asia | ||
Avon Longitudinal Study of Parents and Children | University of Bristol | non-profit | United Kingdom | 1990 | [3] [4] | |
BioBank Graz | Medical University of Graz | non-profit | Austria | [5] | ||
BioBank Japan | RIKEN, University of Tokyo | Population, personalized medicine | non-profit | Japan | 2003 | [6] |
Canadian Biosample Repository | University of Alberta | non-profit | Canada | |||
CARTaGENE biobank | Centre hospitalier universitaire Sainte-Justine | non-profit | Quebec | 2009 | [7] [8] | |
Cooperative Human Tissue Network | Cancer | government | USA | 1987 | ||
Coriell Institute for Medical Research | Genetic Disorders, rare diseases, Stem Cells | non-profit | United States | 1953 | ||
DeCODE genetics | commercial | Iceland | [9] | |||
Estonian Genome Project | University of Tartu | non-profit | Estonia | 2000 | ||
EuroBioBank | Rare diseases | non-profit | Europe | |||
FINBB | Population | non-profit | Finland | [10] | ||
FinnGen | Population, disease focused | public-private | Finland | 2017 | [11] | |
Generation Scotland | NHS Scotland | government | Scotland | 1999 | [12] [13] | |
Genomics England | Rare diseases, cancer | public-private | England | 2013 | [14] | |
HUNT Biobank | Norwegian University of Science and Technology | non-profit | Norway | 2002 | ||
Integrated Biobank of Luxembourg | Luxembourg Institute of Health | Cancer, immunology | Luxembourg | |||
Interdisziplinäre Biomaterial- und Datenbank Würzburg | University of Würzburg & Universitätsklinikum Würzburg | public agency | Würzburg, Germany | 2013 | [15] | |
Kaiser Permanente Research Bank | Kaiser Permanente | Population | United States | 2016 [16] | [17] | |
Lifelines | University of Groningen & University Medical Centre Groningen | Healthy aging | non-profit | Groningen, The Netherlands | 2006 | |
Million Veterans Project | United States Department of Veterans Affairs | American veterans | non-profit | United States | [18] | |
MyCode | Geisinger Health System | Electronic health records, personalized medicine | commercial | Pennsylvania, United States | 2007 | [19] |
nPOD | University of Florida, JDRF | Diabetes | non-profit | United States | 2007 | [20] |
PATH Biobank | Breast cancer | non-profit | Germany | 2002 | ||
Plasma Services Group | Autoimmune, Infectious, Coagulation, Diagnostics [21] | commercial | United States | 2017 | ||
Sapien Biosciences | Apollo Hospitals & Saarum Innovations | Population, with special focus on tailoring treatment for Cancer | private | India (headquartered in Hyderabad) | 2012 | [22] |
Signature biobank | Research centre of the Montreal Mental Health Institute | Mental health | non-profit | Canada (Quebec) | 2012 | [23] |
The Malaysian Cohort | National University of Malaysia | non-profit | Malaysia | 2003 | ||
Tohoku Medical Megabank Project | Tohoku University, Iwate Medical University | Population, Birth and Three-Generation | non-profit | Japan | 2012 | [24] [25] |
UK Biobank | non-profit | United Kingdom | 2006 | [26] | ||
Biobank Sweden | Health and Social Care Inspectorate | Collaborative biobank infrastructure (nearly 250 biobanks) | government | Sweden | 2017 | [27] [28] |
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans, to gain information used for selective breeding, or for efforts to boost genetic diversity in endangered populations.
UK Biobank is a large long-term biobank study in the United Kingdom (UK) which is investigating the respective contributions of genetic predisposition and environmental exposure to the development of disease. It began in 2006.
Genetic discrimination occurs when people treat others differently because they have or are perceived to have a gene mutation(s) that causes or increases the risk of an inherited disorder. It may also refer to any and all discrimination based on the genotype of a person rather than their individual merits, including that related to race, although the latter would be more appropriately included under racial discrimination. Some legal scholars have argued for a more precise and broader definition of genetic discrimination: "Genetic discrimination should be defined as when an individual is subjected to negative treatment, not as a result of the individual's physical manifestation of disease or disability, but solely because of the individual's genetic composition." Genetic Discrimination is considered to have its foundations in genetic determinism and genetic essentialism, and is based on the concept of genism, i.e. distinctive human characteristics and capacities are determined by genes.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
In population genetics, an ancestry-informative marker (AIM) is a single-nucleotide polymorphism that exhibits substantially different frequencies between different populations. A set of many AIMs can be used to estimate the proportion of ancestry of an individual derived from each population.
A biobank is a type of biorepository that stores biological samples for use in research. Biobanks have become an important resource in medical research, supporting many types of contemporary research like genomics and personalized medicine.
Genetic epidemiology is the study of the role of genetic factors in determining health and disease in families and in populations, and the interplay of such genetic factors with environmental factors. Genetic epidemiology seeks to derive a statistical and quantitative analysis of how genetics work in large groups.
Generation Scotland is a biobank, a resource of biological samples and information on health and lifestyle from thousands of volunteer donors in Scotland.
HUNT Biobank is a biorepository, located in Levanger, Norway. It was established in conjunction with the cohort study Trøndelag Health Study (HUNT). The biobank is part of HUNT Research Centre, which is responsible for collecting and providing access to the data and samples from the health study, and the research centre is part of the Faculty of Medicine and Health Sciences at the Norwegian University of Science and Technology (NTNU).
A biological specimen is a biological laboratory specimen held by a biorepository for research. Such a specimen would be taken by sampling so as to be representative of any other specimen taken from the source of the specimen. When biological specimens are stored, ideally they remain equivalent to freshly-collected specimens for the purposes of research.
Biobank ethics refers to the ethics pertaining to all aspects of biobanks. The issues examined in the field of biobank ethics are special cases of clinical research ethics.
Privacy for research participants is a concept in research ethics which states that a person in human subject research has a right to privacy when participating in research. Some typical scenarios this would apply to include, or example, a surveyor doing social research conducts an interview with a participant, or a medical researcher in a clinical trial asks for a blood sample from a participant to see if there is a relationship between something which can be measured in blood and a person's health. In both cases, the ideal outcome is that any participant can join the study and neither the researcher nor the study design nor the publication of the study results would ever identify any participant in the study. Thus, the privacy rights of these individuals can be preserved.
The Estonian Genome Project is a population-based biological database and biobank which was established in 2000 to improve public health in Estonia. It contains health records and biological specimens from a large percentage of the Estonian population.
CARTaGENE is a population based cohort based on an ongoing and long-term health study of 40, 000 men and women in Québec. It is a regional cohort member of the Canadian Partnership for Tomorrow's Health (CanPath). The project's core mandate is to identify the genetic and environmental causes of common chronic diseases affecting the Québec population. The overall objective from a public health perspective is to develop personalized medicine and public policy initiatives targeting high-risk groups. CARTaGENE is under the scientific direction of Sébastien Jacquemont, Ekaterini Kritikou, and Philippe Broët of the Sainte-Justine Children's Hospital University Health Center. Based in Montréal Québec, Canada, CARTaGENE is operated under the infrastructure of the Sainte-Justine Children's Hospital University Health Center and has seen funding from Genome Canada, the Canadian Foundation for Innovation and Génome Québec and the Canadian Partnership Against Cancer (CPAC) since 2007 among other sources. The program was initially founded by Professors Claude Laberge and Bartha Knoppers, and developed through two phases of participant recruitment under the direction of Professor Philip Awadalla as Scientific Director of the cohort from 2009 to 2015, who is now the National Scientific Director of the Canadian Partnership for Tomorrow's Health (CanPath).
In genetics, a polygenic score (PGS) is a number that summarizes the estimated effect of many genetic variants on an individual's phenotype. The PGS is also called the polygenic index (PGI) or genome-wide score; in the context of disease risk, it is called a polygenic risk score or genetic risk score. The score reflects an individual's estimated genetic predisposition for a given trait and can be used as a predictor for that trait. It gives an estimate of how likely an individual is to have a given trait based only on genetics, without taking environmental factors into account; and it is typically calculated as a weighted sum of trait-associated alleles.
Giuseppe Merla is an Italian scientist who is a Full Professor of Molecular Biology at University of Naples Federico II and medical geneticist at Casa Sollievo della Sofferenza in San Giovanni Rotondo, Italy. He is the Managing Director of Fondazione Telethon-Genomic and Genetics Disorders Biobank, a member of EuroBioBank at the Casa Sollievo della Sofferenza Hospital. Merla and his team led the discovery of a new rare genetic syndrome intellectual development disorder with cardiac arrhythmia and the gene responsible for it. Merla is also known for his extensive research on Kabuki Syndrome. He has been declared as the Ambassador of Kabuki syndrome and received the 2019 Ambassador Day award at the Royal Villa of Monza.
Human Heredity and Health in Africa, or H3Africa, is an initiative to study the genomics and medical genetics of African people. Its goals are to build the continent's research infrastructure, train researchers and clinicians, and to study questions of scientific and medical interest to Africans. The H3Africa Consortium was formally launched in 2012 in Addis Ababa and has grown to include research projects across 32 countries, a pan-contintental bioinformatics network, and the first whole genome sequencing of many African ethnolinguistic groups.
Krina Tynke Zondervan is a Dutch biomedical scientist who is a Professor of Genomic Epidemiology at the University of Oxford. She serves on the board of the World Endometriosis Society.
The Tohoku Medical Megabank Project is a national project in Japan. The mission of the Tohoku Medical Megabank (TMM) project is to carry out a long-term health survey in the Miyagi and Iwate prefectures, which were affected by the Great East Japan Earthquake, and provide the research infrastructure for the development of personalized medicine by establishing a biobank and conducting cohort studies. It started in 2012.
Katrina A. Blouke Goddard is an American genetic epidemiologist and biostatistician specializing in public health genomics and the translation of genomic applications into clinical practice. Goddard is the director of the division of cancer control and population sciences (DCCPS) at the National Cancer Institute (NCI). She was previously the distinguished investigator and director of translational and applied genomics at the Kaiser Permanente Center for Health Research and a faculty member at Case Western Reserve University.