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相关概念视频

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Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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建立和管理基因组新生儿查计划的多维框架.

Elena Schnabel-Besson1, Nicola Dikow2, Karla Alex3

  • 1Heidelberg University, Medical Faculty of Heidelberg, Center for Pediatric and Adolescent Medicine, Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.

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此摘要是机器生成的。

为基因组新生儿查 (gNBS) 计划制定了一个新框架,包含18个标准. 该框架涉及改善gNBS实施的临床,诊断,治疗和管理方面.

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科学领域:

  • 基因组学就是基因组学.
  • 公共卫生 公共卫生
  • 医学伦理 医学伦理

背景情况:

  • 新生儿查 (NBS) 对于二次预防至关重要.
  • 基因组测序为扩展的NBS面板 (基因组NBS或gNBS) 提供了潜力.
  • 现有的NBS选择原则 (Wilson和Jungner,1968) 对gNBS已经过时了.

研究的目的:

  • 为未来的基因组NBS计划建立一个全面的,多维的框架.
  • 确定选择目标疾病和管理gNBS计划的标准.
  • 将道德,法律,社会,医疗和患者的观点纳入gNBS标准.

主要方法:

  • 召开了一个跨学科专家小组.
  • 采用了类似于名义集团技术的多阶段共识过程.
  • 在考虑伦理,法律,社会,医疗和患者观点的情况下,制定了标准.

主要成果:

  • 为gNBS制定了18个标准,并将其分为四个子类别.
  • 这些子类别包括:临床,诊断,治疗干预和项目管理标准.
  • 标准I-III侧重于目标疾病的选择;标准IV涉及计划的建立和管理.

结论:

  • 开发的框架为修订NBS选标准提供了一个平衡的基础.
  • 它支持对gNBS进行修订,国际公认的共识标准的开发.
  • 这一框架对于通过基因组学对新生儿查的负责任扩展至关重要.