Khoury Muin J, Feero W Gregory, Reyes Michele, Citrin Toby, Freedman Andrew, Leonard Debra, Burke Wylie, Coates Ralph, Croyle Robert T, Edwards Karen, Kardia Sharon, McBride Colleen, Manolio Teri, Randhawa Gurvaneet, Rasooly Rebekah, St Pierre Jeannette, Terry Sharon
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Genet Med. 2009 Jul;11(7):488-94. doi: 10.1097/GIM.0b013e3181a551cc.
The authors describe the rationale and initial development of a new collaborative initiative, the Genomic Applications in Practice and Prevention Network. The network convened by the Centers for Disease Control and Prevention and the National Institutes of Health includes multiple stakeholders from academia, government, health care, public health, industry and consumers. The premise of Genomic Applications in Practice and Prevention Network is that there is an unaddressed chasm between gene discoveries and demonstration of their clinical validity and utility. This chasm is due to the lack of readily accessible information about the utility of most genomic applications and the lack of necessary knowledge by consumers and providers to implement what is known. The mission of Genomic Applications in Practice and Prevention Network is to accelerate and streamline the effective integration of validated genomic knowledge into the practice of medicine and public health, by empowering and sponsoring research, evaluating research findings, and disseminating high quality information on candidate genomic applications in practice and prevention. Genomic Applications in Practice and Prevention Network will develop a process that links ongoing collection of information on candidate genomic applications to four crucial domains: (1) knowledge synthesis and dissemination for new and existing technologies, and the identification of knowledge gaps, (2) a robust evidence-based recommendation development process, (3) translation research to evaluate validity, utility and impact in the real world and how to disseminate and implement recommended genomic applications, and (4) programs to enhance practice, education, and surveillance.
作者描述了一项新的合作计划——实践与预防基因组应用网络(Genomic Applications in Practice and Prevention Network)的基本原理和初步发展情况。该网络由疾病控制与预防中心和美国国立卫生研究院召集,成员包括来自学术界、政府、医疗保健、公共卫生、行业和消费者等多个利益相关方。实践与预防基因组应用网络的前提是,在基因发现与其临床有效性及实用性的证明之间存在一个未被填补的鸿沟。这个鸿沟是由于大多数基因组应用的实用性缺乏易于获取的信息,以及消费者和提供者缺乏实施已知信息所需的知识。实践与预防基因组应用网络的使命是通过授权和资助研究、评估研究结果以及传播关于实践与预防中候选基因组应用的高质量信息,加速并简化将经过验证的基因组知识有效整合到医学和公共卫生实践中的过程。实践与预防基因组应用网络将开发一个流程,把关于候选基因组应用的信息持续收集与四个关键领域联系起来:(1)新技术和现有技术的知识综合与传播,以及知识差距的识别;(2)一个强大的基于证据的推荐制定过程;(3)转化研究,以评估在现实世界中的有效性、实用性和影响,以及如何传播和实施推荐的基因组应用;(4)加强实践、教育和监测的项目。