Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
复制标题
DOI：
10.1016/j.ajhg.2016.04.011
复制
发表时间：
2016-06-02
影响因子：
9.8
通讯作者：
Yu, Joon-Ho
中科院分区：
文献类型：
--
作者：
Green, Robert C.;Goddard, Katrina A. B.;Yu, Joon-Ho
尽管技术进步迅速，某些类型的诊断和治疗的有效性已得到证明，但关于临床基因组和外显子组测序（CGES）及其在医学实践中的作用仍有很多东西需要了解。临床测序探索性研究 (CSER) 联盟包括 18 个校外研究项目、1 个国家人类基因组研究所 (NHGRI) 校内项目以及一个由 NHGRI 和国家癌症研究所资助的协调中心。该联盟正在通过多学科方法探索分析和临床的有效性和实用性，以及测序的伦理、法律和社会影响；迄今为止，该公司已利用种系和癌症测序招募了 5,577 名参与者，其中包括有症状和健康的儿童和成人。 CSER 联盟正在分析数据并创建与参与者偏好和同意、变异分类、主要和次要发现的披露和管理、健康结果以及与电子健康记录集成相关的公开程序和工具。未来的研究方向将完善 CGES 在种系和体细胞检测中的临床效用，评估 CGES 在健康个体筛查中的应用，通过广泛的表型分析探索致病变异的外显率，减少基因和变异公共数据库中的不一致，检查提供基因组学服务中的社会和种族差异，探索监管问题，并估计测序的价值和下游成本。 CSER 联盟通过使用多种方法建立了一个共享的研究站点社区，以追求基因组医学最佳实践的循证开发。
Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstreamcosts of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine.