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基因选用于基因组新生儿查:走向共识?

Lilian Downie¹, Sophie E Bouffler², David J Amor³

¹Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia.

Genetics in medicine : official journal of the American College of Medical Genetics

|January 26, 2024

概括

这项研究策划了一份用于基因组新生儿查 (gNBS) 的共识基因列表,确定了六个全球项目同意的55个核心基因. 这项协调工作旨在提高全球gNBS的有效性和一致性.

科学领域:

遗传学是一个遗传学.
基因组学就是基因组学.
医学遗传学医学遗传学

背景情况:

基因选择对基因新生儿查 (gNBS) 的有效性和伦理使用至关重要.
现有的gNBS基因列表显示,尽管有共同的选择原则,但存在显著的变异性.
协调基因列表对于一致可靠的gNBS实施至关重要.

研究的目的:

为基因组新生儿查 (gNBS) 策划一个共识基因列表.
以现有的努力为基础,建立基因疾病对的核心列表.
促进gNBS基因选择的国际协调.

主要方法:

一个多学科专家团队使用开放平台和现有资源策划了一份基因列表.
纳入标准侧重于早期发病 (<5年) 和已确立的基因疾病关联的严重,可治疗的疾病.
策划的列表与其他五个gNBS项目进行了比较,以确定共识和差异.

主要成果:

审查了1279个基因,其中604个符合纳入标准.
代谢状况 (25%),免疫缺陷 (21%) 和内分泌疾病 (15%) 是最大的组.
在所有六个gNBS项目中确定了55个共识基因,差异通常是由于可治疗性和基因疾病关联强度的可变定义.

结论:

已经确定了gNBS的共识基因列表.
这份清单为gNBS国际协调工作提供了基础.
基因选择的标准化将提高gNBS的可靠性和伦理应用.

关键词:

可操作性可操作性临床有效性临床有效性基因选择基因选择基因与疾病的关联基因组新生儿查基因组新生儿查

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