Genomic Health Care and the Medically Underserved

描述（由申请人提供）：基因组研究正在迅速为理解疾病生物学提供新的机会，并有望通过改进预测和预防策略、靶向药物治疗和创新的基于分子的治疗来显著提高医疗保健和健康结果。与生物医学和技术的其他开创性发展一样，成功的临床转化需要仔细评估具体干预措施的惠益和危害，以便鼓励改善健康结果的使用，并尽量减少造成伤害或加速保健支出而没有相应惠益的应用。在应对这一挑战的同时，还需要缩小卫生保健差距。基因组保健时代的一个主要关切是确保医疗服务不足的人能够充分受益于基因组技术，同时不会因基因歧视而遭受更多的不平等。然而，这些群体往往在获得保健服务方面遇到重大障碍，包括获得服务的机会有限和文化上不适当的护理。此外，由于遗传学与种族主义之间的历史联系，或者由于遗传学被视为威胁核心文化价值，少数群体可能对基因组保健持怀疑态度。在确定基因组技术的益处和适当用途时，需要考虑到这些看法，这些看法挑战了遗传学临床应用的可接受性。该ELSI研究卓越中心将致力于解决基因组学临床整合的两个首要主题：需要定义临床整合标准，从而导致基因组健康护理的临床和社会适当应用；需要一种转化途径，将减少医疗服务不足人群之间的医疗保健差距纳入目标。一项主要成果将是确定和评估应对这些挑战的政策选择。该中心的具体目标是：1)确定评估一系列不同基因组应用于医疗保健的临床效用的策略；2)评估不同基因组保健应用对医疗服务不足人群的影响；3)描述将基因组临床整合到医疗保健中的政策选择，及其对解决健康和医疗保健差异的影响；4)让ELSI研究人员和基因科学家就环境、社会结构因素和基因对健康结果的相互作用进行持续对话；5)提供培训机会，鼓励未被充分代表的少数民族研究人员参与中心的研究议程和其他ELSI研究；6)促进合作伙伴关系，从而为解决这些问题和相关问题的研究提供额外的资助。

DESCRIPTION (provided by applicant): Genomic research is rapidly producing new opportunities for understanding disease biology, and promises to enhance health care and health outcomes significantly through improved strategies for prediction and prevention, targeted drug treatment, and innovative molecular-based therapies. As with other seminal developments in biomedicine and technology, successful clinical translation requires a careful evaluation of the benefits and harms of specific interventions, in order to encourage uses that improve health outcomes and minimize applications that cause harm or accelerate health care expenditures without commensurate benefit. This challenge is matched by the need to reduce health care disparities. A major concern in the era of genomic health care is to insure that the medically underserved can benefit fully from genome technology, while at the same time not experiencing additional disparities due to genetic discrimination. Yet these groups often experience significant barriers to health care, including limited access to services and culturally inappropriate care. In addition, minority groups may view genomic health care with suspicion, because of historic associations between genetics and racism or because genetic science is viewed as threatening core cultural values. These perceptions, which challenge the acceptability of clinical uses of genetics, need to be taken into account in determining the benefits and appropriate uses of genomic technology. This Center of Excellence in ELSI Research will be dedicated to addressing two overarching themes accompanying the clinical integration of genomics: the need to define criteria for clinical integration that lead to clinically and socially appropriate applications of genomic health care; and the need for a translational pathway that incorporates the goal of reducing health care disparities among the medically underserved. A major product will be the identification and assessment of policy options for addressing these challenges. The specific aims of the Center are to: 1) Identify strategies for assessing the clinical utility of a range of different genomic applications to health care; 2) Assess the implications of different genomic health care applications for medically underserved populations; 3) Describe policy options for the clinical integration of genomes into health care, and their implications for addressing health and health care disparities; 4) Engage ELSI researchers and genetic scientists in on-going conversations about the interacting contributions of the environment, social structural factors, and genetics to health outcomes; 5) Provide training opportunities to encourage the participation of researchers from underrepresented minorities in the Center's research agenda and other ELSI research; and 6) Stimulate collaborative partnerships that result in additional funded research addressing these and related questions.