Genetic research on tissue samples collected in studies such as the International HapMap Project have contributed to the understanding of human genetic variation.[(16,17,67)] Currently, investigators researchers are making important inroads in research on copy number variation and the human microbiome.[(68,69)] Taken together, findings from these studies are challenging traditional views of human genetic variation and will provide important information on differences in the expression and prevalence of disease both within and between populations groups. Our challenge is to understand the views and concerns of underserved and minority communities in order to both identify potential barriers to genetic variation research for health disparities and develop meaningful approaches for overcoming them. Genome scientists, social scientists, and health policy analysts have different views about the relevance of genomic research for health disparities among population groups.[(63,70,71)] Some investigators and scholars believe that genomics can provide important clues for isolating causal factors in health disparities, even when those factors themselves are environmental and social and not genetic.[(72,73)] This perspective suggests that translational genomics research may help us better understand the processes and inheritance patterns that lead to a disproportionate burden of disease among some individuals and population groups. Others are more critical, arguing that an overemphasis on genetic determinants might lead researchers to ignore important social or environmental contributions to health inequalities, and might promote a disproportionate reliance on downstream medical interventions at the expense of upstream social or political change. [(63,70)] Still others worry that any use of population categories in research contributes to the danger of reifying false notions of biological differences between social groups, potentially exacerbating racism rather than reducing health inequalities. [(50,51)] These academic debates are mirrored in the public's attempts to understand group health disparities, and in this context they can create serious barriers to genetic variation research and its potential applications to personalized medicine or public health Interventions aimed at reducing health disparities. As a practical matter, however, if genomics hopes to have any role in reducing health disparities, its assumptions and goals will have to make sense to the communities involved.[(53,67,74-76)] There is a growing literature on attitudes of diverse communities about genetic variation research, its implications for individual and group identity, and its potential impact on health care.[(52,77-88)] Nevertheless, the need for empirical studies on knowledge, attitudes and beliefs about genetic variation research and health disparities in underserved and minority communities remains strong. Specifically, we need more information on what communities that are experiencing health disparities know and think about genomic research, and how they might inform research plans if they were invited to discuss them. There is also a need for further ethical and legal analyses to inform the development of science and health policy. The research we propose will contribute to our understanding of this evolving landscape, enabling us to consider the diversity that exists in the meanings people give to genetic variation and genomic research and the implications of both for reducing health disparities. Cultural, social, and historical factors have always provided contextual and personal frames of reference that influence our beliefs about the role of genetics in health outcomes, and our experiences of health and illness, medical treatment and access to care. Representations of groups, and reactions to them, may become more complex because genome scientists now have the tools for identifying more refined ancestry groups categorized through genomic ancestry testing research, or newly identified sub-sets of at-risk populations found through GWAS or Copy number variation studies.[(89)] In this way, genetic variation research has the potential for redefining how we think about population groups in genetic or biological terms, and these will, in turn, impact how we address the health disparities within these groups. In addition to contributing to the reification of social categories, genetic variation research may result in the creation of rare orphan genotypes. More relevant to our particular concerns, genetic variation research may place a disproportionate emphasis on genomic factors at the risk of ignoring other fundamental social causes of health disparities. From this perspective, the road to personalized medicine may have a number of detours through group-specific interventions, such as """"""""racialized"""""""" medicine, or a focus on prevention for at-risk groups.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Specialized Center (P50)
Project #
5P50HG003390-08
Application #
8380748
Study Section
Special Emphasis Panel (ZHG1-HGR-P)
Project Start
Project End
Budget Start
2012-08-01
Budget End
2013-07-31
Support Year
8
Fiscal Year
2012
Total Cost
$102,249
Indirect Cost
$37,121
Name
Case Western Reserve University
Department
Type
DUNS #
077758407
City
Cleveland
State
OH
Country
United States
Zip Code
44106
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