Introduction: Race, Genetics, and Disease

Abstract

This special issue of Studies of Science highlights ongoing debates concerning race, genomics, and disease. Some of the papers examine the production of disease etiology research, pharmaceutical drug response, or DNA genealogy tests, while others analyze institutional consequences and challenges arising from contemporary biomedicine, such as medical education and recruiting subjects for clinical research. In this introduction, we outline major issues that provide background and foreground for the specific studies that follow, and end with a brief description of the papers. First, we briefly outline the debates around contemporary genetics research on race, ancestry, population, and disease. Second, we describe genomics and disease research projects on the genetics of populations that provide the ground on which the past debates have played, as well as introduce very recent projects that may change the tenor of future debates. We discuss why some scientists argue that their research does not biologize race, while others argue that their findings do demonstrate racial differences. Finally, we relate these complex genomic sciences and their biopolitical debates to relevant STS themes.

Communicating results in post-Belmont era biomonitoring studies: Lessons from genetics and neuroimaging research

“…Some researchers argue that even a small difference is significant, as heritable variations in the human genome, such as single-nucleotide polymorphisms (SNPs, pronounced ‘snips’), small deletions, insertions, and other structural differences in genomes might partially explain variation in human susceptibility to certain diseases. Genome mapping has spawned a new field of ‘risk genomics’ in which large-scale statistical analyses involving genome-wide association studies (GWAS) seek to identify SNPs potentially involved in human variation of disease susceptibility (Fujimura et al, 2008). These data have been used by scientists as well as private companies to derive individualized disease risk estimates before the extent to which SNPs are linked to disease causation is fully understood and before treatments are available (Fujimura et al, 2008; Goetz, 2007).…”

Inclusion and Exclusion in Nutrigenetics Clinical Research: Ethical and Scientific Challenges

“…The impact of admixture in populations and genomic variability on research results as well as the efficacy of the methodological tools used to overcome such issues remain controversial. The debate is particularly fierce in pharmacogenomics, genetic association studies, and genome-wide association studies, especially when it comes to using race, ancestry, or ethnicity as proxies for genotypes [8,9,10,17,20,72,73,74,75]. However, it has become clear that caution is needed when generalizing genetic research findings across ethnic populations [e.g.…”

“…In genetic studies, including genome-wide association studies, algorithmic approaches have been developed to ‘stratify’ populations in order to take into account variables or confounders that could affect the identification and the scope of genetic associations [9], as well as to preserve the external validity of the findings, despite population genetic diversity and admixture. The emergence of personalized health interventions – most often referred to as personalized medicine – as well as the development of genomic sciences in medical care have dramatically revived the debate pertaining to the use of the concepts of ‘race’, ‘ancestry’, and ‘ethnicity’ (as proxies for genetic variations or predispositions, for instance) in clinical research and medical practices [9,10,11,12,13,14,15,16,17,18,19,20,21,22]. Yet, an attempt to synthesize or fully grasp the many controversies and issues that these concepts have generated would go beyond the scope of this paper.…”

Liberalism and Its Contradictions: Democracy and Hierarchy in Mestizaje and Genomics in Latin America

“…A further goal was to contribute to understanding the history of colonization in the region and elucidating the characteristics of indigenous populations and their place within the modernizing nation (Duque Gómez 1944;Sans 2000;Suárez-Díaz and Barahona 2013). More recently this ancestry testing has been driven primarily by genomic medicine, for which it is helpful to know the ancestral composition of sample populations (Burchard et al 2005;Fujimura, Duster, and Rajagopalan 2008), and in which there are suggestions of links between particular ancestries and specific disorders (Kahn 2013;Montoya 2011).…”