防控出生缺陷,关怀生育健康 ——华大基因&协和医院启动中国多中心孕期人群常见单基因病携带者筛查项目

2018-03-22 MedSci MedSci原创

中国多中心孕期人群常见单基因病携带者筛查项目启动仪式揭幕2018年3月18日,在深圳华大基因股份有限公司主办的第十三届国际基因组学大会:生育健康临床应用(ICG13·RH)上,深圳华大基因联合北京协和医院牵头发起了中国多中心孕期人群常见单基因携带者筛查项目。该项目拟通过对不低于4000例孕妇,及高风险孕妇的丈夫进行百种单基因隐性遗传病携带者筛查,得出中国孕期人群的携带情况数据;并通过产前诊断,准确


中国多中心孕期人群常见单基因病携带者筛查项目启动仪式揭幕

2018318日,在深圳华大基因股份有限公司主办的第十三届国际基因组学大会:生育健康临床应用ICG13·RH)上,深圳华大基因联合北京协和医院牵头发起了中国多中心孕期人群常见单基因携带者筛查项目该项目拟通过对不低于4000例孕妇,及高风险孕妇的丈夫进行百种单基因隐性遗传病携带者筛查,得出中国孕期人群的携带情况数据;并通过产前诊断,准确评估通过携带者筛查能够控制的出生缺陷比例。除协和医院外,其它参与单位共包括来自全国东南西北中不同地域的共9家产诊单位。

华大基因CEO尹烨致开幕词

单基因遗传病是由单个基因缺陷所导致的疾病根据世界卫生组织 (WHO) 统计,单基因遗传病在全球出生人口中所有单基因遗传病的累计发病率高达百分之一,是出生缺陷的重要原因。

隐性遗传病携带者筛查是指通过基因组分析确定夫妻双方是否为同一单基因隐性遗传病或X连锁疾病的致病基因携带者(如遗传性耳聋、地贫、白化病、血友病等),对其进行风险评估和生育指导。

出生缺陷防控携带者筛查属于三级预防中的一级预防维度,即在疾病发生前采取措施,从根本上预防和消除疾病。相比产前诊断和新生儿筛查,携带者筛查是出生缺陷防控中对受检人伤害最小,最为有效的措施。

项目实施过程中,协和医院联合其他产诊单位负责临床样本筛选、临床指导、遗传咨询及产前诊断工作建立孕期人群携带者筛查模式,保障本项目的顺利完成。华大基因则将作为重要的技术支持者,为携带者筛查提供产品和技术支持,让技术与临床紧密结合。

除了检测和咨询,医院方面还将通过随访和问卷调查的方式,从孕妇、医生、行政管理三个层面对市场诉求和服务模式认知度进行调研,单基因病防控的服务模式探索提供方向。

孕期夫妇在孕前的干预很少,大部分就是补充叶酸维生素这类,他们往往是第一个孩子出现了出生缺陷,在第二胎的时候才会做携带者筛查,这是非常被动的。北京协和医院妇产科副教授蒋宇林表示,我们希望能够提前一点。

此次项目的阶段性目标是对不低于4000例孕妇,及高风险孕妇的丈夫进行百种单基因隐性遗传病携带者筛查,得出中国孕期人群的携带情况数据通过该项目,一方面可建立起孕期人群携带者筛查模式,助力全国的出生缺陷防控;另一方面可填补中国在扩展型携带者筛查检测领域研究的空白

此外,双方还将共同推进医院遗传咨询能力的建设。遗传咨询是出生缺陷防控的关键一环,但我国目前遗传咨询体系尚未建立,无论是遗传咨询师的教育培训还是职业发展体系都不完善。目前我国的遗传咨询工作主要由一线临床医生承担,其科技相关的技术支持和职业教育需要企业支持。体系化的遗传咨询的培育和发展,需要科技企业和临床医院的紧密配合,此次华大基因和协和医院共同开展的单基因病筛查,将为我国遗传咨询队伍的建立和发展做出积极探索。

据悉,筛查项目将通过多中心临床研究的模式进行。在过去的单基因病筛查项目中,参与人群主要以南方地区为主,本次研究将覆盖东、南、西、北、中五个地区,研究中国不同地区单基因病的遗传差异,并后续的产品设计和推广模式研究奠定基础。

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    2019-03-04 qblt
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    2018-03-23 张新亮1853311252142e2fm

    认真学习了.谢谢

    0

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    2018-03-22 wzb521zf

    一起学习学习

    0