Biobanks for genomics and genomics for biobanks

Abstract

Biobanks include biological samples and attached databases. Human biobanks occur in research, technological development and medical activities. Population genomics is highly dependent on the availability of large biobanks. Ethical issues must be considered: protecting the rights of those people whose samples or data are in biobanks (information, autonomy, confidentiality, protection of private life), assuring the non-commercial use of human body elements and the optimal use of samples and data. They balance other issues, such as protecting the rights of researchers and companies, allowing long-term use of biobanks while detailed information on future uses is not available. At the level of populations, the traditional form of informed consent is challenged. Other dimensions relate to the rights of a group as such, in addition to individual rights. Conditions of return of results and/or benefit to a population need to be defined. With ‘large-scale biobanking’ a marked trend in genomics, new societal dimensions appear, regarding communication, debate, regulation, societal control and valorization of such large biobanks. Exploring how genomics can help health sector biobanks to become more rationally constituted and exploited is an interesting perspective. For example, evaluating how genomic approaches can help in optimizing haematopoietic stem cell donor registries using new markers and high-throughput techniques to increase immunogenetic variability in such registries is a challenge currently being addressed. Ethical issues in such contexts are important, as not only individual decisions or projects are concerned, but also national policies in the international arena and organization of democratic debate about science, medicine and society.

Stakeholders’ perspectives on biobank-based genomic research: systematic review of the literature

“…The focus of the ethical debate is on informed consent as an expression of self-determination of research participants and privacy protection as a part of their personal rights. 3,6,8 For informed consent to be meaningful, research ethics demands that the participant be informed about the purpose and the content of the project and about its potential risks and benefits. This enables the participant to determine whether to participate or not.…”

“…Biobanks can be disease-specific or population-based, ranging from small collections to large-scale repositories. [3][4][5][6][7] Linking biological materials to personal data for enabling biobankbased genomic research raises several ethical questions that are currently debated. The focus of the ethical debate is on informed consent as an expression of self-determination of research participants and privacy protection as a part of their personal rights.…”

Establishing and Sustaining a Biorepository Network in Israel: Challenges and Progress

“…7 The essential elements, models of, and ethical issues surrounding informed consent have been discussed extensively elsewhere. [8][9][10] Consent must be voluntary, and participants must be informed of the nature and purpose of their participation, of risks and benefits, of their right to withdraw, and of their right or lack thereof to commercial patents derived from research using their samples. All of these elements exist to varying degrees in all of Israel's standardized consent forms for various types of research, and are particularly important when considering consent to future projects.…”

National Biobanks: Clinical Labor, Risk Production, and the Creation of Biovalue

“…From the 1950s to 1980s, genetic research used a range of clinical and laboratory methods—family history, cytological, and biochemical studies—to understand the links between disease and genetics. Studies were generally oriented toward rare, monogenetic diseases such as Huntington's disease or muscular dystrophy, and emphasized family-based studies (Cambon-Thomsen et al 2003). Genomics involves the application of information technology to genetic analysis and develops the informatics approach to molecular biology exemplified by the Human Genome Project (HGP).…”

“…As Cambon-Thomsen and colleagues note, once biobanking becomes a national project, rather than a series of fragmented commercial or university-based collections, it also becomes “a matter of scientific political decision at the level of national resource exploitation” (Cambon-Thomsen et al 2003, 629). The resource itself requires sometimes extensive involvement of significant proportions of the national population, immediately raising issues of citizenship and the role of the state in the mobilization of citizen participation.…”