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家庭高胆固醇血症是否应列入英国新生儿全基因组测序计划?

Steve E Humphries¹, Uma Ramaswami², Neil Hopper³

¹Centre for Cardiovascular Genetics, Rayne Building, 5 University Street, University College London, London, United Kingdom, WC1E 6JJ.

Current atherosclerosis reports

|December 7, 2023

概括

家庭性高胆固醇血症 (FH) 应纳入英国新生儿基因组计划 (NGP). 通过全基因组测序 (WGS) 早期检测可以及时治疗,改善这种遗传性疾病的婴儿的健康结果.

科学领域:

基因组学和遗传查基因组学和遗传查
公共卫生倡议公共卫生倡议
预防心血管疾病预防心血管疾病

背景情况:

英国国家卫生服务 (NHS) 正在启动新生儿基因组计划 (NGP).
该计划旨在使用全基因组测序 (WGS) 识别患有可治疗遗传性疾病的婴儿.
家族性高胆固醇血症 (FH) 是潜在纳入的关键焦点.

研究的目的:

根据包含在新生儿基因组计划 (NGP) 中的四个关键原则来评估家族性高胆固醇血症 (FH).
确定FH是否符合新生儿基因查的标准.

主要方法:

根据新生儿查计划的既定标准对FH的评估 (威尔逊和Jungner标准).
基于四个具体原则的FH评估:可靠的遗传检测,早期心脏病风险,早期干预的好处,以及公平获得治疗.

主要成果:

原则A:导致FH的遗传变异可靠地检测到.
原则B:患有FH变体的个体在没有诊断和治疗的情况下面临早期心脏病的高风险.
原则C:早期干预显著改善了患有FH的儿童的结果.
原则D:FH推的干预措施是公平的.

结论:

家族性高胆固醇血症 (FH) 符合纳入新生儿基因组计划 (NGP) 所需的所有四个原则.
此外,FH还满足了威尔逊和Jungner对查计划的标准.
强烈建议将FH纳入新生儿基因组计划,用于早期检测和干预.

关键词:

家庭性高胆固醇血症 (FAMI) 是一种家族性高胆固醇血症.健康的生活方式健康的生活方式同卵性FH同卵性FH 增加了LDL胆固醇的负担.新生儿基因组计划新生儿基因组计划整个基因组的测序.

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