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相关概念视频

Genetic Screens02:46

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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在单一卫生系统中进行基因组查.

Juliann M Savatt1, Melissa A Kelly1, Amy C Sturm1,2

  • 1Geisinger, Danville, Pennsylvania.

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基因组查在30个个体中发现了1个医学可行的遗传风险,大多数人不知道他们的倾向. 这凸显了基因组查在改善疾病预防和管理方面的潜力.

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科学领域:

  • 基因组医学是基因组医学.
  • 翻译基因组学是翻译的基因组学.
  • 人口健康基因组学

背景情况:

  • 基因组查有望通过确定可用于疾病预防和管理的可操作发现来改变医学.
  • 尽管有潜力,基因组查在很大程度上局限于研究,尚未纳入常规临床护理.

研究的目的:

  • 总结一下11年来在一个大型卫生系统内对基因组查的经验.
  • 探索当前基因组查工作及其结果的景观.

主要方法:

  • 一项队列研究分析了Geisinger的MyCode社区健康倡议参与者的外体数据.
  • 基因组查阳性率根据疾病类型和美国疾病预防控制中心1级指标进行评估.
  • 评估了不知道基因组结果的参与者比例,并编制了其他大规模基因组查工作.

主要成果:

  • 在175500名可用外体序列测序的参与者中,3.4%的人在81个疾病风险基因中具有致病变体.
  • 在519个公开的结果中,44.2%是心血管疾病,39.7%是癌症,16.0%是其他疾病.
  • 近90%的参与者在披露之前不知道他们的基因组风险;只有25%的受访生物库返回了可操作的基因组结果.

结论:

  • 基因组查是有效的识别潜在的可操作的基因组发现在人口的很大一部分.
  • 大多数被确定具有遗传风险的个体以前没有意识到这一点,这强调了主动查的价值.
  • 大多数大型生物库没有返回可操作的基因组结果,这代表了改善健康结果和研究的错失机会.