Genomic Health Care and the Medically Underserved

基因组研究正在迅速为理解疾病生物学创造新的机会，并有望增强 通过改进预测和预防战略、靶向药物，显著提高医疗保健和健康结果 治疗和创新的基于分子的疗法。与生物医学和其他开创性的发展一样 技术，成功的临床翻译需要仔细评估特定的 干预措施，以鼓励使用改善健康结果并最大限度地减少造成伤害或 加速医疗保健支出，却没有相应的好处。与这一挑战相匹配的是，需要减少 医疗保健方面的差距。基因组医疗保健时代的一个主要问题是确保医疗服务不足的人能够 充分受益于基因组技术，同时不会因基因差异而经历额外的差异 歧视。然而，这些群体往往在卫生保健方面遇到重大障碍，包括获得服务的机会有限。 以及文化上不适当的照顾。此外，少数群体可能会对基因组医疗保健持怀疑态度，因为 基因和种族主义之间的历史联系，或者因为基因科学被视为威胁核心文化 价值观。这些观念对遗传学临床应用的可接受性提出了挑战，需要加以考虑。 在确定基因组技术的益处和适当用途方面。这个ELSI研究的卓越中心 将致力于解决伴随着基因组学临床整合的两个主要主题：需要 确定临床整合的标准，从而导致基因组保健在临床和社会上的适当应用； 以及需要一条包含减少健康和保健差距目标的转换途径 医疗服务不足的人。一项主要成果将是确定和评估政策选项，以解决 这些挑战。该中心的具体目标是：1)确定评估射程临床效用的策略 不同基因组应用于医疗保健；2)评估不同基因组医疗保健应用的含义 针对医疗服务不足的人群；3)描述将基因组临床整合到健康中的政策选择 医疗保健及其对解决卫生和医疗保健差距的影响；4)让ELSI研究人员和基因 科学家们正在就环境、社会结构因素和 遗传学对健康结果的影响；5)提供培训机会，鼓励来自 在中心的研究议程和其他ELSI研究中代表性不足的少数群体；以及6)鼓励合作 伙伴关系导致解决这些问题和相关问题的额外资助研究。

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 genomie 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 and 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 ifor medically underserved populations; 3) Describe policy options for the clinical integration ofgenomies 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.