Clinical Management of Pediatric Genomic Testing.
Clinical Management of Pediatric Genomic Testing.
复制标题
儿科基因组检测的临床管理。
DOI：
10.1007/s40142-014-0052-8
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发表时间：
2014
影响因子：
2.1
通讯作者：
Holm,IngridA
中科院分区：
文献类型：
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作者：
Holm,IngridA
随着测序融入临床医学，关于基因组信息返回的许多复杂的伦理问题出现了，特别是在儿科领域。问题集中在儿童的最大利益上，特别是在返回有关成人发病情况的信息方面。其中包括孩子未来的自主决策和获得有关可治疗疾病的知识、家庭中的孩子以及家庭成员学习可能影响他们个人的信息的好处。本文首先讨论返回基因组信息的框架，然后讨论有关结果返回的伦理问题。最后，它讨论了潜在的危害和好处，同时认识到人们对这些危害和好处的实际情况知之甚少。基因组信息的新时代正处于起步阶段；以一种为患者及其家人提供有用的知识而不造成痛苦的方式处理基因组信息是最大的挑战。
As sequencing becomes integrated into clinical medicine, many complex ethical questions arise regarding the return of genomic information, especially in pediatrics. Issues center on the best interests of the child, particularly in return of information about adult-onset conditions. These include the child’s future autonomous decision-making and access to knowledge about treatable conditions, the child in the family unit, and benefit to family members of learning information which could impact them personally. This article first discusses the framework for returning genomic information, and then ethical issues regarding return of results. Finally, it discusses potential harms and benefits, while recognizing that little is known about what these actually are. A new era of genomic information is in its infancy; handling genomic information in a way that provides patients and their families with knowledge that is helpful without causing distress is the greatest challenge.