Genet Med. 2014 Mar;16(3):217-24. doi: 10.1038/gim.2013.110. Epub 2013 Aug 8.
The Evaluation of Genomic Applications in Practice and Prevention Working Group was first convened in 2005 to develop and test evidence-based methods for the evaluation of genomic tests in transition from research to clinical and public health practice. Over the ensuing years, the Working Group has met 26 times, publishing eight recommendation statements, two methods papers, and one outcomes paper, as well as planning and serving as technical experts on numerous associated systematic reviews. Evaluation of Genomic Applications in Practice and Prevention methods have evolved to address implications of the proliferation of genome-wide association studies and are currently expanding to face challenges expected from clinical implementation of whole-genome sequencing tests. In this article, we review the work of the Evaluation of Genomic Applications in Practice and Prevention Working Group over the first 8 years of its existence with an emphasis on lessons learned throughout the process. It is hoped that in addition to the published methods of the Working Group, the lessons we have learned along the way will be informative to others who are producers and consumers of evidence-based guidelines in the field of genomic medicine.
实践与预防基因组应用评估工作组于2005年首次召集，旨在开发和测试基于证据的方法，以评估从研究过渡到临床和公共卫生实践的基因组检测。在随后的几年里，该工作组召开了26次会议，发表了8份推荐声明、2篇方法论文和1篇结果论文，并为众多相关系统评价担任规划和技术专家。实践与预防基因组应用评估方法不断发展，以应对全基因组关联研究激增的影响，目前正在扩展，以应对全基因组测序检测临床应用预期带来的挑战。在本文中，我们回顾了实践与预防基因组应用评估工作组成立头8年的工作，重点是整个过程中的经验教训。希望除了工作组已发表的方法外，我们一路走来学到的经验教训能为基因组医学领域基于证据指南的生产者和使用者提供参考。
