The genetic revolution is well underway, with genetic research and knowledge expanding at an exponential rate. Much of the new genetics research is focused on population groups, and proponents of “population genomics” argue that such studies are necessary since genetic “variation” among human populations holds the most promise for technological innovations that can improve human health and lead to increased understanding of the origin of human populations. Population genomic research thus targets specific groups to discover variation that could lead to (...) knowledge about genetic disorders, possible cures, and the origin and migration patterns of distinctive peoples. Research on genetic differences among groups or populations, however, raises many pressing ethical and legal questions. For example, focus on biological differences of racial and ethnic groups has in the past lead to assumptions about superiority and inferiority between groups, and in practice resulted in stigmatization and discrimination. Consequently, attention on groups should raise legal and moral red flags and compel us to move cautiously in this area. Pragmatically, targeting population groups as the object of study requires the determination of the nature and scope of “population groups” for purposes of genetics research. (shrink)

ABSTRACT Dealing primarily with implications rather than foundations, and focusing downstream at the expense of upstream prevention, mainstream bioethics is at a toxic watershed. Through an extended analysis of the Environmental Genome Project (EGP), we offer new tools from the philosophy of science and from critical epidemiology to help bioethics to move ahead. Our aim in this paper is not to resolve the moral and conceptual problems we reveal, but rather to outline ways to prevent such problems from arising in (...) future research. (shrink)

In financial disputes involving research, the parties are traditionally individual researchers and their institutions, biotech and pharmaceutical companies, and other entities engaged in the commercial development of biomedical research. Occasionally, research subjects claim that researchers have misled them or misappropriated their biological materials to derive financial gain. The best known example is the case of Moore v. Regents of the University of California, decided in 1990.With new developments in genomics, large-scale repositories of tissue and other biological specimens are increasingly important. (...) Biobanks have been established by various researchers, commercial entities, health-care institutions, and even entire countries. Individuals who contribute specimens almost always retain no commercial interest in any resulting research and language to that effect is now customarily included in informed consent documents signed at the time the specimen is given. Suppose, however, that the research subjects actually collect the specimens themselves, recruit the researcher, and provide financial support for the research. (shrink)

A great part of human genetics research is carried out collecting data and building large databases of biological samples that are in a non-anonymous format. These constitute a valuable resource for future research. The construction of such databases and tissue banks facilitates important scientific progress. However, biobanks have been recognized as ethically problematic because they contain thousands of data that could expose individuals and populations to discrimination, stigmatization and psychological stress if misused. Informed consent is regarded as a cornerstone in (...) the protection of personal autonomy in research involving human subjects. Yet in recent years this fundamental concept has been overwhelmed by the genomic revolution. From a general overview of international literature, it seems evident that informed consent issues have come into sharp focus, in particular in relation to the twin issues of time extension (blanket versus specific/repeated consent) and personal extension (group consent). After an introduction on obtaining informed consent in the context of genetic research, this paper addresses the apparent lack of a single, universal model of obtaining informed consent among populations involved in genetic research and it argues for the need to develop an ethical framework tailored to the specific features of each project. In order to support this theory of contextualizing, the case of a private biotechnology company, SharDNA is presented. The present paper explores the management of its biobank, developed from a genetic research project carried out on isolated populations living on the Italian island of Sardinia. In particular, the paper highlights how the company is tackling the problem of informed consent and other ethical requirements for genetic research, such as the respect of individual privacy, the population approach and the existing Italian legal regulatory framework. (shrink)

Large-scale genetic databases are being developed in several countries around the world. However, these databases depend on public participation and acquiescence. In the past, information campaigns have been waged and little attention has been paid to dialogue. Nowadays, it is important to include the public in the development of scientific research and to encourage a free, open and useful dialogue among those involved. This paper is a review of community consultation strategies as part of four proposed large-scale genetic databases in (...) Iceland, Estonia, United Kingdom and Quebec. The Iceland Health Sector Database and Estonian Genome Project have followed a “communication approach” in order to address public concerns, whereas, UK Biobank and Quebec CARTaGENE have chosen a “partnership approach” to involve the public in decision-making processes. (shrink)