...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Sociology of health & illness >The Actionability of Exome sequencing testing results
【24h】

The Actionability of Exome sequencing testing results

机译：exome测序测试结果的可行性

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Abstract Genomic tests such as exome sequencing have recently become an option for diagnosing patients. The tests allow clinical geneticists to sequence the majority of patients’ disease causing genetic variants. As a new technology, exome sequencing confronts the question of what the benefit is of this increased genetic information. Against a narrow perspective of clinical utility that emphasises tangible improvements in a patient's disease management, professional organisations have argued that genomic sequencing should be considered beneficial if it helps families and society. Based on video‐recorded observations of the return of exome sequencing results to parents of a child with disabilities in the clinic and in‐depth interviews with these parents, we examine how genomic test results become actionable in the clinical encounter. We find that parents and clinicians marshal exome results beyond biomedical diagnostic and management goals to address questions about guilt for causing the disabilities and to secure access to disability‐related services. We argue that genomic actionability rests on the interaction between the biological characteristics of genetic results and the predicaments facing parents of children with disabilities.
机译：摘要诸如Exome测序的基因组测试最近成为诊断患者的选择。该测试允许临床遗传学家序列序列大多数患者疾病导致遗传变异。作为一种新技术，Exome测序面对这种增加的遗传信息的问题。反对强调患者疾病管理的切实改善的临床实用性的狭窄视角，专业组织认为，如果有助于家庭和社会，应被视为有益的基因组测序。根据视频记录的观察，对临床和深入访谈的残疾儿童的exame测序结果的返回患者，我们研究了基因组测试结果如何在临床遭遇中变得可行。我们发现父母和临床医生的exome导致生物医​​学诊断和管理目标，以解决有关造成残疾的有罪的问题，并确保访问与残疾人有关的服务。我们认为基因组可诉性依赖于遗传结果的生物学特征与残疾儿童父母之间的互动。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号