The science of biobanks
The science of biobanks is very broad and diverse and includes research, education, funding, publishing, biobanking services, and others. A lot of activities have appeared to support the development of biobanks. In 2005, Office of Biobanking and Biospecimen Research (OBBR) was based in the frame of US National Cancer Institute (NCI). Also, in Europe, a lot of activities supporting the biobank development have been raised, some of them in the frame of 7th Framework Programme of EU (FP7) in years 2007–2013 and continues in the following framework program, Horizon 2020 (2014–2020). EU funded projects are pioneering the development of techniques for population genetics and performing large population studies on the genetic predisposition to major diseases. Support is also provided for development of harmonization protocols and for collection, storage, and management of patient samples and of genetic data across Europe. Recognizing the power of population-based approaches to study genetic susceptibility for disease, between 2002 and 2008, the European Commission’s Framework Programmes for Research and Technology Development (RTD) have provided more than €60 million to collaborative research projects in this area. The most relevant projects are mentioned here.
Project P3G (the Public Population Project) in Genomics is an international consortium with members in 40 countries. It aims to lead, catalyze, and coordinate international efforts and expertise, so as to optimize the use of studies, biobanks, research databases, and other similar health and social research infrastructures (http://?www.?p3g.?org).
Project SPIDIA (Standardisation and improvement of genetic Pre-analytic tools and procedures for In-vitro DIAgnostics, http://?www.?spidia.?eu) was launched in 2009 and brought together 16 academic institutions, international organizations, and life sciences companies. The project aid is to standardize and improve pre-analytical procedures for in vitro diagnostic testing [13].
The ENGAGE (http://?www.?euengage.?org/?) consortium has brought together 24 leading research organizations and two biotechnology and pharmaceutical companies across Europe and in Canada and Australia. ENGAGE aims to translate the wealth of data emerging from large-scale research in genetic and genomic epidemiology from European (and other) population cohorts into information relevant to future clinical applications. The concept of ENGAGE is to enable European researchers to identify large numbers of novel susceptibility genes that influence metabolic, behavioral, and cardiovascular traits and to study the interactions between genes and lifestyle biomarkers factors.
The ENGAGE consortium will integrate and analyze one of the largest ever human genetics dataset (more than 80,000 genome-wide association scans and DNAs and serum/plasma samples from over 600,000 individuals). One goal is to demonstrate that the findings from ENGAGE can be used as new diagnostic indicators for common diseases that will help us to understand better risk factors, disease progression, and why people differ in responses to treatment.
HYPERGENES project (http://?www.?hypergenes.?eu) is focused on the definition of a comprehensive genetic epidemiological model of complex traits like essential hypertension (EH) and intermediate phenotypes of hypertension dependent/associated target organ damages (TOD) as well as other endophenotypes as the pharmacogenomic pattern of drugs widely used in EH. The discovery of the genetic component in common complex diseases is extremely challenging since most of them are multifactorial and since the genetic component is likely to be described by the interactions of several genes involved in the disease pathway, each predisposing imperceptibly to the disease. HYPERGENES adopted the genome-wide association (GWA) approach to identify common variants contributing to the inherited component of common diseases.
The GEN2PHEN project (http://?www.?gen2phen.?org/?) aims to unify human and model organism genetic variation databases toward increasingly holistic views into genotype-to-phenotype (G2P) data, and to link this system into other biomedical knowledge sources via genome browser functionality. The project will establish the technological building-blocks needed for the evolution of today’s diverse G2P databases into a future seamless G2P biomedical knowledge environment, by the project’s end. This will consist of a European-centered but globally networked hierarchy of bioinformatics GRID-linked databases, tools and standards, all tied into the Ensemble genome browser.
All together, 34 projects were/are supported by European Commission in FP7, and the process continues in Horizon 2020.
Not only framework programs of European Union support the biobanking in Europe and all over the world, but also other international initiatives contribute to the development of biobanking. Innovative Medicines Initiative (IMI, http://?www.?imi.?europa.?eu/?), Europe’s largest public-private initiative, is aiming to speed up the development of better and safer medicines for patients. IMI supports collaborative research projects and builds networks of industrial and academic experts in order to boost pharmaceutical innovation in Europe. IMI is a joint undertaking between the European Union and the pharmaceutical industry association—European Federation of Pharmaceutical Industries and Associations (EFPIA) (Fig. 4) [33].
The projects including biobanking activities supported by Innovative Medicines Initiative 2 (2009–2014). Modified from [32]