Beyond the Rhetoric: Population Genetics and Benefit-Sharing

Abstract

1. Background Information derived from the Human Genome Project (HGP) promises to inspire an array of future innovations with profound societal benefits. (1) Population genetic research is now viewed as a necessary next step in the evolution of research based on the human genome. (2) It is anticipated that projects will be developed in which the DNA from thousands of research subjects will be linked to medical records and to genealogical data; these complex databases will provide much needed insight into the etiology and prevention of many complex human diseases. Analyses of data procured in large-scale population genetic studies will enable researchers to gain a better understanding of the gene-environment interactions that are now implicated in cardiovascular diseases, metabolic disorders, musculoskeletal diseases, neuropsychiatric diseases and cancer. The completion of the sequencing phase of the HGP provides researchers: with an unparalleled opportunity to advance our understanding of the role of genetic factors in human health and disease, to allow more precise definition of the non-genetic factors involved, and to apply this insight rapidly into the prevention, diagnosis and treatment of disease.... [T]he time is right to develop and apply large-scale genomic strategies to empower improvements in human health, while anticipating and avoiding potential harm. (3) The challenge remains to justly translate the potential of the HGP into improved human health and well-being. (4) To facilitate the understanding of gene-environment interactions, numerous large-scale population genetic research studies have been commenced or are in the process of being developed. (5) Prospectively gathered and appropriately stored biological materials coupled with comprehensive measures of environmental exposure, phenotype and genotype will help researchers to confirm or refute existing assumptions about the interrelatedness of these factors. It is hoped that such new knowledge will facilitate the planning of health promotion and disease prevention at the level of populations as well as render adverse drug reactions predictable and avoidable based on an individual's genotype. (6) 1(a) The general concerns However, with this optimism about the long-term potential of population genetic research come numerous legal and social issues; concerns regarding individual and group consent, (7) ownership of human biologic materials (8), privacy and confidentiality, (9) genetic discrimination and stigmatization (10) and eugenics (11) have been repeatedly raised. Academic researchers focussing on the ethical, legal and social issues (ELSI) of the HGP have initiated much debate on these topics. It has been noted that failure to apply the highest ethical standards to population genetic studies could undermine public trust and confidence in scientific development and the products of medical research. (12) Moreover, the increased involvement of the private sector in human genetic and genomic research may promote secrecy amongst researchers, inhibit academic freedom, diminish the collaborative will of researchers and inappropriately shift the focus of research from basic discovery to commercializable end products. (13) 1(b) The particular problem of property Concepts of ownership, values, rights and sharing of knowledge vary from one culture to another, between political systems and between legal systems. These differences have particular relevance to the collection and banking of human biological samples: should they be characterized person, property, sui-generis--or not at all; should human genes be patentable; what is the legal status of linked and linkable databases? These questions have been imperfectly addressed. For example, no consensus exists as to who owns donated DNA samples. In the present age of globalization, it is important that these fundamental conceptual differences not be ignored. …