Communities, Genetic Variation Research and Health Disparities Initiative

社区、遗传变异研究和健康差异倡议

• 批准号: 8126724
• 负责人: PATRICIA A. MARSHALL
• 金额: $ 10.6万
• 依托单位: CASE WESTERN RESERVE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-08-05 至 2014-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8126724
• 关键词: Address; Area; Asses; Attitude; Belief; Biological; Categories; Clinic; Clinical; Communities; Community Networks; Complex; Consensus Development Conferences; Copy Number Polymorphism; Data; Development; Disease; Ethical Analysis; Ethics; Focus Groups; Genetic; Genetic Determinism; Genetic Research; Genetic Variation; Genome; Genomics; Genotype; Goals; Health; Health Policy; Health Services Accessibility; Healthcare; Human Genetics; Human Microbiome; Human Rights; Individual; Inheritance Patterns; International; Intervention; Justice; Knowledge; Laws; Lead; Legal; Literature; Locales; Manuscripts; Medical; Medicine; North Carolina; Orphan; Outcome; Outpatients; Patients; Pilot Projects; Policy Developments; Population; Population Group; Populations at Risk; Preparation; Prevalence; Prevention; Process; Public Health; Publishing; Reaction; Recommendation; Reliance; Research; Research Personnel; Research Project Grants; Rights; Risk; Role; Science; Scientist; Self-Administered; Shapes; Structure; Surveys; Testing; Tissue Sample; Translational Research; Underrepresented Minority; Universities; Variant; Voice; Washington; base; burden of illness; community based participatory research; design; experience; genome wide association study; health disparity; health inequalities; insight; interest; metropolitan; programs; racism; social; social group; symposium; theories; tool

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.

在诸如国际HAPMAP项目等研究中收集的组织样本的遗传研究有助于理解人类遗传变异。[（（16,17,67）]当前，研究人员正在对拷贝数变异和人类微生物组的研究进行重要的研究。在人口组之间和之间。我们的挑战是了解服务不足和少数民族社区的观点和关注点，以确定遗传变异研究的潜在障碍，并为克服它们而开发有意义的方法。 基因组科学家，社会科学家和健康政策分析师对人群群体之间的健康差异的相关性有不同的看法。[（63,70,71）]一些研究者和学者认为，基因组学认为，即使这些因素本身和社会的统一性，基因组学可以为健康差异隔离而孤立，也可能是遗传性的。更好地了解一些个人和人群中疾病负担不成比例的过程和继承模式。其他人则更为批评，认为对遗传决定因素的过分强调可能会导致研究人员忽略重要 社会或环境对健康不平等的贡献，并可能以牺牲上游社会或​​政治变革为代价来促进对下游医疗干预措施的不成比例。 [（63,70）]还有一些人担心，在研究中使用人口类别的任何使用都有危险地危害了社会群体之间生物学差异的虚假观念，可能加剧了种族主义，而不是减少健康不平等。 [（50,51）] 这些学术辩论反映在公众了解群体健康差异的尝试中，在这种情况下，它们可以为遗传变异研究及其对个性化医学或旨在减少健康差异的公共卫生干预措施的潜在应用造成严重的障碍。但是，作为一项实际问题，如果基因组学希望在减少健康差异中发挥任何作用，其假设和目标将对所涉及的社区有意义。[（53,67,74-76）]关于对遗传变异研究的多样化社区的影响，对个人和群体的影响，对82的影响（52），越来越多的文献对多样化的社区的影响，[52]。对于知识的实证研究，关于遗传变异研究和少数民族社区的遗传变异研究和健康差异的态度和信念仍然很强。具体来说，我们需要更多有关哪些社区经历健康差异的社区知道并考虑基因组研究的社区，以及如果邀请他们讨论他们，他们将如何为研究计划提供信息。还需要进行进一步的道德和法律分析，以告知科学和卫生政策的制定。我们提出的研究将有助于我们对这种不断发展的景观的理解，使我们能够考虑人们对遗传变异和基因组研究的意义中存在的多样性以及两者对降低健康差异的影响。 文化，社会和历史因素始终提供了背景和个人参考框架，影响了我们对遗传学在健康成果中的作用以及我们在健康和疾病，医疗和获得护理方面的经验的信念。群体的表示以及对他们的反应可能会变得更加复杂，因为基因组科学家现在拥有通过基因组祖先测试研究分类或通过GWAS或拷贝数量变异研究发现的高风险种群的新近鉴定的子集进行分类的更精致的祖先组的工具。[（89）]在这种方式上，遗传变异研究在这种方式上，遗传变异研究，遗传变异研究，遗传变异研究，遗传变异研究。 重新定义我们如何以遗传或生物学术语来思考人群的潜力，而这些群体将影响我们如何解决这些群体内的健康差异。除了促进社会类别的贡献外，遗传变异研究还可能导致罕见的孤儿基因型的创造。 与我们的特定问题更加相关，遗传变异研究可能会使基因组因素的不成比例不成比例，因为基因组因素会忽略其他基本的健康差异社会原因。从这个角度来看，通往个性化医学的道路可能会通过特定于小组特定的绕道 干预措施，例如“种族化”药物或专注于高危群体的预防。