为基因组学时代运用威尔逊-格纳原理:国际新生儿测序联盟的共识建议
Lilian Downie1, Julie Yeo2, Thomas Minten3
1Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Australia.
概括
需要更新基因组新生儿查 (NBS) 的建议. 一个经过修改的Delphi研究开发了10个共识陈述,以指导基因组NBS研究和公共卫生计划.
科学领域:
- 遗传学 是一个遗传学.
- 基因组医学是基因组医学.
- 公共卫生 公共卫生
背景情况:
- 新生儿查 (NBS) 长期以来一直依赖于1968年的指南.
- 基因组测序提供了扩大的NBS可能性.
- 更新的建议对于在NBS中导航基因组数据至关重要.
研究的目的:
- 为基因组NBS中选择条件制定最新的建议.
- 解决NBS中基因组数据所带来的复杂性和机遇.
主要方法:
- 与国际专家一起进行了修改后的Delphi研究.
- 参与者包括来自16多个基因组NBS研究项目的领导者.
- 为了达成共识,使用了三轮带有反的在线问卷调查.
主要成果:
- 在三轮德尔菲研究后,在10个声明上达成共识.
- 参与者数量从第一轮的94人减少到第三轮的68人.
- 所有10个最终的共识声明都达到了72%或更多的共识.
结论:
- 十个共识建议可以指导未来的基因组NBS研究和计划.
- 该研究确定了未来研究重点的分歧领域.
- 这项工作为推进基因组NBS实施提供了一个框架.
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