This research, supported by the Science, Technology & Society program and the Biology Directorate at NSF under the Biology & Society initiative, notes that science and society are entering a pivotal moment with regard to understandings of race, human variation, and individual genetic risk. As genome-wide analyses are being funded in both the public and private sectors, scientists and members of the lay public remain unclear about the connections between social classifications of race and human genetic variation as these bear on disease risk. Nonetheless, genomic studies that sort DNA and other biological specimens by US census categories have become one acceptable norm for many in the genome sciences. How do scientists grapple with questions of "best practices" on these issues when common health disparities, such as prostate cancer, disproportionately affect US minorities? How, and under what conditions, are social categories of identity effective for sifting through biogenetic differences characteristic of the human genome? Finally, how do members of minority groups and concerned citizens of the lay public who are targeted for genetic studies help to shape, revise, or contest genetic uses of racial ascription? The answers to these questions are of increasing relevance to public understandings of science. This study employs extensive observational analyses and interviews with both geneticists and members of the lay public to chronicle how the societal and scientific expansion of genetic research on human variation influences key areas of social life. These areas include biomedicine (through disease risk mapping), law (through forensic DNA database building), and personhood (through identity markers framed as "ancestry"). One related question that this ethnographic study will begin to answer is how members of the public may or may not feel comfortable with the myriad potential uses to which their DNA can be put. A related major component of this social scientific study will focus on the ethical practices of research scientists who are mindful of the importance of diverse medical inclusion for biological and social reasons, while also having a personal commitment to empower and represent research subjects who are members of diverse communities. Appeals to advance genetics for conditions that disproportionately affect African-Americans, in one lab, and injunctions to support new technological feats of personalized genomics, in another, are compared as lead geneticists' personal articulations of their goals merge with perceived societal needs. This research also investigates how such work by geneticists may pose new concerns and constraints for the research participation of certain social groups.

Project Report

This project consisted of an ethnographic study of scientists who research human medical genetics and continental racial ancestry with the goal of reducing health disparities. The research chronicled the extent to which American political concepts of race and ethnicity influence how scientists design studies. Drawing attention to patterns in how scientists think about human genetic diversity can highlight constraints in the ways that research protocols are imagined, and which questions get asked. Raising awareness of these limitations contributes to improving science by encouraging geneticists to think more deeply about broader causes of illness and to rely less on simple genetic correlations with race and ethnicity. This is especially true when researchers take genetic samples from populations that correspond to preconceived notions of racial categories. Individual genomes are highly diverse, yet race is often used as a sorting mechanism in genetic research. The population-level measures used to investigate the relationship between genes and disease often emphasize race as one of the most important determinants of disease. This scientific cultural practice can divert attention from other biological and environmental factors that could be associated with specific conditions. Furthermore, framing genetic risk in racial terms may be stigmatizing, and could inaccurately reinforce ideas about racial differences being fixed biological differences, or innate. The new approach of personal genomics, or looking at the genetics of individuals, rather than whole groups, could push the field beyond racial thinking. However, privacy concerns and the current costs of individual genomic testing have limited the growth of personal genomics. It is therefore critical to increase dialogue between social scientists and scientists about how the use of American notions of race may inadvertently limit the potential good of human genetic research.

Agency
National Science Foundation (NSF)
Institute
Division of Social and Economic Sciences (SES)
Application #
0849109
Program Officer
Linda Layne
Project Start
Project End
Budget Start
2009-04-01
Budget End
2012-03-31
Support Year
Fiscal Year
2008
Total Cost
$176,397
Indirect Cost
Name
Harvard University
Department
Type
DUNS #
City
Cambridge
State
MA
Country
United States
Zip Code
02138