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Laura Grech^1,2, Celine Ann Grech³, Jasmine Spiteri²

¹Department of Applied Biomedical Sciences, Faculty of Health Sciences, University of Malta, Msida, Malta.

Molecular genetics & genomic medicine

|September 19, 2025

概括

临床外基因组测序在3.4%的马耳他人中发现了可操作的二次发现,主要与心脏病和癌症有关. 这凸显了在精准医学中对人口特异性基因组数据的需求.

科学领域:

基因组学就是基因组学.
精准医学是一门精准的医学.
人口健康人口健康

背景情况:

临床外体序列测序对于在医疗保健中识别可操作的二次发现 (SF) 变得越来越重要.
在不同的人群中,SFs的流行率和类型存在显著差异.
了解这些变异对于公平的基因组医学实施至关重要.

研究的目的:

用ACMG SF v3.2基因列表来确定马耳他人口中可操作的致病性或可能致病性 (P/LP) 变异的流行率.
评估外基因组测序在特定代表性不足的群体中识别临床相关遗传信息的有用性.
为制定国家精准医学战略提供信息.

主要方法:

分析了350名与马耳他无关个人 (320名对照,30名生物银行参与者) 的外体序列数据.
根据ACMG/AMP指南,根据致病性或可能致病性 (P/LP) 状态过变种.
专注于ACMG SF v3.2列表中的基因.

主要成果:

在12个个体 (3.4%) 中检测到可操作的P/LP变体,这些变体位于自体主导基因内.
鉴定出的变异主要与遗传性心脏病和癌症倾向综合征有关.
这些结果强调了将代表性不足的人群纳入基因组研究的重要性.

结论:

该研究提供了马耳他人口中可采取行动的SF的第一个基线估计.
整合特定人口的基因组数据对于国家精准医学框架至关重要,特别是对于孤立群体.
建议为生物库参与者建立返回可操作结果的协议和遗传咨询.

关键词:

在ACMG SF v3.2 中使用.外基因组测序是指外基因组的测序.基因组医学是基因组医学.二次性发现二次性发现

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