Raising Genomic Citizens: Adolescents and the Return of Secondary Genomic Findings
Raising Genomic Citizens: Adolescents and the Return of Secondary Genomic Findings
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DOI：
10.1177/1073110516654123
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发表时间：
2016-06-01
影响因子：
2.1
通讯作者：
Appelbaum, Paul S.
中科院分区：
文献类型：
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作者：
Sabatello, Maya;Appelbaum, Paul S.
全基因组和外显子组测序（WGS/WES）技术为新的诊断、预防和预测遗传病以及改善儿童护理带来了希望。为了实现这些希望，需要对儿童进行广泛的基因组研究。然而，在儿科研究环境中使用WGS/WES给家庭、研究人员和政策制定带来了相当大的挑战。特别是，这些技术可能会产生与测序的主要目标无关的基因发现，这引发了激烈的争论，即这些次要或偶然发现（sf）是否，哪些，如何以及何时应该归还给父母和未成年人。当研究对象是青少年时，争论甚至更加明显，因为对他们来说，是否归还sf的决定可能具有特殊的含义。在本文中，我们考虑了基因组公民身份的兴起以及这些利益相关者面临的主要挑战：青少年参与与基因组sf返还相关的决策，应该提供的sf类型，隐私保护以及研究人员与青少年之间关于sf的沟通。我们认为，青少年参与基因组sf相关决策承认了他们作为有价值的利益相关者的地位，而不会减损更广泛的家庭利益，并促进了更多知情的基因组公民。
Whole genome and exome sequencing (WGS/WES) techniques raise hope for a new scale of diagnosis, prevention, and prediction of genetic conditions, and improved care for children. For these hopes to materialize, extensive genomic research with children will be needed. However, the use of WGS/WES in pediatric research settings raises considerable challenges for families, researchers, and policy development. In particular, the possibility that these techniques will generate genetic findings unrelated to the primary goal of sequencing has stirred intense debate about whether, which, how, and when these secondary or incidental findings (SFs) should be returned to parents and minors. The debate is even more pronounced when the subjects are adolescents, for whom decisions about return of SFs may have particular implications. In this paper, we consider the rise of genomic citizenship and the main challenges that arise for these stakeholders: adolescents' involvement in decisions relating to return of genomic SFs, the types of SFs that should be offered, privacy protections, and communication between researchers and adolescents about SFs. We argue that adolescents' involvement in genomic SF-related decisions acknowledges their status as valuable stakeholders without detracting from broader familial interests, and promotes more informed genomic citizens.