Growing up in the genomic era: implications of whole-genome sequencing for children, families, and pediatric practice.
Growing up in the genomic era: implications of whole-genome sequencing for children, families, and pediatric practice.
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DOI：
10.1146/annurev-genom-091212-153425
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发表时间：
2013
影响因子：
8.7
通讯作者：
Wilfond BS
中科院分区：
文献类型：
--
作者：
Wade CH;Tarini BA;Wilfond BS
全基因组测序（WGS）已经发展到一个点，它开始整合到儿科实践。关于如何最大限度地发挥WGS对儿童的益处的共识很少，因此越来越需要集中努力，将研究人员、临床医生和家庭联系起来，共同制定前进的道路。为了说明相关问题，本文探讨了儿童WGS的两种对比应用：临床应用于未确诊疾病的儿童，以及基于人群的筛查。根据目前的研究，讨论了保健服务、政策制定和儿童福利方面的具体挑战。为了确保以证据为基础的儿科WGS，我们确定了一些策略，以促进我们对儿童在WGS结果指导下成长意味着什么的理解。
Whole-genome sequencing (WGS) has advanced to a point where it is beginning to be integrated into pediatric practice. With little consensus on how to maximize the benefits of WGS for children, there is a growing need for focused efforts that connect researchers, clinicians, and families to chart a path forward. To illustrate relevant concerns, two contrasting applications of pediatric WGS are explored: clinical use with children who have undiagnosed conditions, and population-based screening. Specific challenges for health care services, policy development, and the well-being of children are discussed in light of current research. In the interest of ensuring evidence-based pediatric WGS, strategies are identified for advancing our understanding of what it means for children to grow up with WGS results guiding their health care.
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影响因子：
8.8
作者：
Duncan, RE;Savulescu, J;Delatycki, MB
通讯作者：
Delatycki, MB
影响因子：
--
作者：
Borry, Pascal;Goffin, Tom;Dierickx, Kris
通讯作者：
Dierickx, Kris
影响因子：
2.2
作者：
Borry, Pascal;Howard, Heidi C.;Avard, Denise
通讯作者：
Avard, Denise
影响因子：
8
作者：
Alexander, D;van Dyck, PC
通讯作者：
van Dyck, PC
DOI：
10.1007/978-1-4419-5800-6_20
发表时间：
2010-01-01
期刊：
HANDBOOK OF GENOMICS AND THE FAMILY: PSYCHOSOCIAL CONTEXT FOR CHILDREN AND ADOLESCENTS
影响因子：
--
作者：
Elger, Bernice S.
通讯作者：
Elger, Bernice S.