Genomic Medicine Pilot Demonstration Projects Coordinating Center

描述（由申请人提供）：将基因组发现整合到医疗实践中的挑战是复杂的，存在于医疗保健系统的多个层面。因此，需要采取协作、战略和严格的方法来解决基因组实施的障碍并应用解决方案，以最大限度地发挥其对公共卫生的影响。宾夕法尼亚大学协调中心的目标是确保单个基因组试点示范项目的成功，同时促进项目之间的合作，以产生和传播可推广的知识。这些知识可用于维持和扩大现有的努力，并为其他临床环境中的实施提供信息。申请人团队在协调中心实现这些目标所需的各个方面都有丰富的经验。研究人员带来了来自正在进行的协调中心领导和协作基因组实施项目的见解和专业知识;来自宾夕法尼亚大学致力于在实践中实施基因组学的中心，ELSI（伦理法律的和社会影响），统计遗传学，生物信息学和健康传播;以及评估实施策略的功效和有效性的经验。该小组建议使用一个概念和业务框架，从执行科学中借鉴协作，一个旨在不仅评估执行的有效性，但也通知他们的发展，并提高他们的成功，可持续性和传播的机会。使用相互商定的框架将有助于指导实施过程的每一步，例如，将基因组研究结果整合到电子健康记录中，开发临床决策支持工具，并定义和衡量实施结果。最终目标将是推进基因组实施科学领域，并利用该联盟和其他NHGRI联盟的专业知识，使联盟的贡献大于其部分的总和。

DESCRIPTION (provided by applicant): The challenges to integrating genomic findings into healthcare practice are complex and exist at multiple levels of the health care system. A collaborative, strategic, and rigorous approach to addressing the barriers and applying solutions to genomic implementation is therefore required to maximize its public health impact. The goal of the Coordinating Center at the University of Pennsylvania is to ensure the success of individual Genomic Pilot Demonstration Projects while stimulating collaboration across projects to produce and disseminate generalizable knowledge. Such knowledge can be used to sustain and expand existing efforts and to inform implementation in other clinical settings. The applicant team has extensive experience in all aspects required of the coordinating center to achieve these goals. The investigators bring insights and expertise from ongoing coordinating center leadership and collaborative genomic implementation projects; from University of Pennsylvania Centers devoted to implementation of genomics in practice, ELSI (Ethical Legal and Social Implications), statistical genetics, bioinformatics, and health communications; and from experience evaluating the efficacy and effectiveness of implementation strategies. The team proposes to use a conceptual and operational framework for collaboration borrowed from implementation science, one designed to not only assess effectiveness of implementations but also to inform their development and improve their chances of success, sustainability, and dissemination. The use of a mutually agreed-upon framework will help guide each step of the implementation process, e.g., integrating genomic findings into electronic health records, developing clinical decision support tools, and defining and measuring outcomes of implementation. The ultimate goal will be to advance the field of genomic implementation science and leverage the expertise within this and other NHGRI consortia so that the contributions of the consortia are greater than the sum of their parts.