Implications of Genomics Research on Racial Definition

This proposal addresses the question posed in the RFA for the ELSI program 'Will continuing research in molecular biology and functional genomics affect how individuals and society view the relationship of humans to one another and to the rest of the living world?' Specifically, the purpose of this application is to address the impact of current and future knowledge of genetics and genomics on the scientific and cultural definition of race, an issue for the Human Genome Project (HGP). Results from increased knowledge about human gene sequences has led to the conclusion that division of the species according to racial lines is artificial, arbitrary and lacking in biological meaning. At the same time such information has demonstrated that at numerous loci, there is wide variation between allele frequencies in the total human population, and such variation is particularly obvious when comparing different racial groups. The purpose of this proposal is to develop scientific and philosophical tools to address and clarify the apparent racial genetics paradox, to better define the categorization of humans according to DNA sequence characteristics, and to provide more useful categories with respect to human genetic diversity as applied to biomedical research and clinical applications. It is anticipated that the results of these efforts will be of benefit in the new atmosphere of genome based definitions of individual characteristics. The specific aims are: to perform a thorough and complete analysis of the current published biomedical literature on genetic variation as a function of race or ethnicity combined with current and future data from the HGP, and other related projects. A new paradigm of gene-specific variation will be developed for a biomedically useful method of division of the human population into groups based on criteria different from current definitions of race.