Population Biobanks And The Challenge Of Harmonization

The "banking" of human biological samples for research is not a twenty-first century phenomenon. Human tissue has been gathered and collected for at least 100 years. According to the U.S. National Bioethics Advisory Committee, by 1999, a total of 282 million unique tissue specimens were being held in the United States [27]. The term biobank, however, is relatively new. It appeared in PubMed for the first time in 1996 [28] and was not common nomenclature until the end of the decade. The sequencing of the human genome, advances in computational biology, and the emergence of new disciplines such as bio-marker discovery, pharmacogenomics, and nutrigenomics have sparked unprecedented demand for samples of human blood, tissue, urine, DNA, and data. Three -fourths of the clinical trials that drug companies submit to the U.S. Food and Drug Administration for approval now include a provision for sampling and storing human tissue for future genetic analysis [3]. Biobanking has become deserving of its own name and has gained a dedicated society, the International Society for Biological and Environmental Repositories (ISBER), as well as two recent worldwide congresses: the WorldWide BioBank Summits (organized by IBM Healthcare and Life Sciences) and Biobanking and Biorepositories (organized by Informa Life Sciences).

The collection of human samples and data for research has not just accelerated, it has evolved. Four features differentiate biobanks today from those of 20 years ago: the emergence of large population--evel biobanks, increased levels of commercial involvement, the desire for international collaborations requiring samples and data to be shared beyond national borders, and finally, the prospective nature of many emerging collections. The increased speed and scale of biobanking has contributed to the increasing public and academic concern with the ethical and social implications of this technology. The rules and practices of research and research ethics developed prior to the consolidation of these trends now inhibit the ability to construct biobanks and related research efficiently. They also provide ineffective protection for individuals and populations.

Small genetic databases containing a limited number of samples, attached to one research project focused on a specific disease were once standard. Such collections still exist: clinical collections within hospital pathology departments, and case- or family- based repositories for genetic studies of disease. Larger provincial, national, and international repositories are now increasingly common, as is the networking of existing collections. Provincial examples include the CARTaGENE project in Quebec (Canada). National disease-based biobanks and networks include the Alzheimer's Genebank, sponsored jointly by the U.S. National Institute on Ageing and the Alzheimer's Association. Examples of national or regional population-level biobanks include the Estonian Genome Project (Estonia), Biobank Japan (Japan), Icelandic Health Sector Database, UK Biobank (UK), Medical Biobank (Sweden) and the Singapore Tissue Network (Singapore). International collaborations include the European GenomEUtwin Project, a study of twins from Denmark, Finland, Italy, the Netherlands, Sweden, the UK, France, Australia, Germany, Lithuania, Poland, and the Russian Federation (http:// www.genomeutwin.org/).

Levels of commercial involvement vary among these biobanks. The Icelandic Biobank was founded as a public-private partnership between the Icelandic government and deCODE Genetics. UmanGenomics was given exclusive rights to commercialize information derived from Sweden's Medical Biobank. The Singapore Tissue Network, by contrast, is publicly funded and will not be involved in commercialization. Biotechnology companies involved in biobanking include Newfound Genomics, which gathers DNA samples from volunteers across Newfoundland and Labrador.

Many of these large population databases are designed as research infrastructures. They do not focus on one specific disease or genetic characteristic, but contain samples from sick and healthy persons, often across several generations. DNA, blood, or other tissues are stored together with health and lifestyle data from medical records, examinations and questionnaires. These large population databases support research into complex gene interactions involved in multifactoral diseases and gene-gene and gene-environment interactions at the population level. There are few clinical benefits to indi vidual donors. Benefits are expected to be long term and often cannot be specified at the time of data and tissue collection. It is a major challenge to the requirement of informed consent that persons donating biological and data samples cannot know the specific future research purposes for which their donations will be used.

This proliferation of biobanks, and the advent of population-wide and transnational biobanking endeavors, has triggered a variety of regulatory responses. Some national biobanks have been created in association with new legislation. Estonia and Lithuania enacted the Human Genes Research Act (2000) and the Human Genome Research Law (2002), respectively, possibly motivated by the inadequacy of existing norms, a belief that genetic data and research require different regulation than traditional medicine, as well as by the need for democratic legitimacy [19] . The UK Human Tissue Act (2004), Sweden's Act on Biobanks (2002), and the Norwegian Act on Biobanks (2003) all pertain to the storage of biological samples [29]. Other national initiatives do not treat genetic data as exceptional. They remain dependent on a network of existing laws.

A series of national and international guidelines have also been produced, such as the World Medical Association's Declaration on Ethical Considerations Regarding Health Databases (2002) and guidelines from the U.S. National Bioethics Advisory Commission (1999) and the Council of Europe Committee of Ministers (2006). As with national regulation, however, the norms, systems, and recommendations for collection and processing of samples, informed consent procedures, and even the terminology for degrees of anonymization of data differ substantially between guidelines.

Anonymization terminology illustrates the confusion that can result from such diversity. European documents distinguish five levels of anonymization of samples [30] . Within European documents, anonymized describes samples used without identifiers but that are sometimes coded to enable reestablishing the identity of the donor. In most English Canadian and U.S. texts, however, anonymized means that the sample is irreversibly de-identified. Quebec follows the French system, distinguishing between reversibly and irreversibly anonymized samples. In European documents, coded usually refers to instances where researchers have access to the linking code. But the U.S. Office for Human Research Protection (OHRP) uses the word to refer to situations where the researcher does not have access to the linking code [30]. To add to the confusion, UNESCO has been criticized for creating new terms, such as proportional or reasonable anonymity. that do not correspond to existing categories [19] .

Such confusion has led to repeated calls for harmonization of biobank regulations. The Public Population Project in Genomics consortium (P3G) is one attempt, a nonprofit consortium aiming to promote international collaboration and knowledge transfer between researchers in population genomics. With over 30 charter and associate members, P3G declares itself to have "achieved a critical mass to form the principal international body for the harmonization of public population projects in genomics" (http://www. p3g.org ).

Standardization also has its critics, notably among smaller biobanking initiatives. In 2006, the U.S. National Cancer Institute (NCI) launched guidelines spelling out best practices for the collection, storage, and dissemination of human cancer tissues and related biological specimens. These high-level guidelines are a move toward standardization of practice, following revelations in a 2004 survey of the negative impact of diverse laboratory practices on resource sharing and collaboration [31]. The intention is that NCI funding will eventually depend on compliance. The guidelines were applauded in The Lancet by the directors of major tissue banks such as Peter Geary of the Canadian Tumor Repository Network. They generated vocal concerns from other researchers and directors of smaller banks, many of which are already financially unsustainable. Burdensome informed consent protocols and the financial costs of infrastructural adjustments required were the key sources of concern. This is a central problem for biobanking and biomedical ethics: the centrality, the heavy moral weight, and the inadequacy of individual and voluntary informed consent.

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