贝瑞和康高通量测序技术临床应用新进展研讨会

2016年5月27日,第六届中国胎儿医学大会在东方明珠——上海隆重开幕。作为基因测序行业的践行者,贝瑞和康邀请众多专家共襄此次胎儿医学盛会,并在贝瑞和康CEO周代星博士的主持下,特别召开了“高通量测序技术临床应用新进展研讨会”,为与会者提供高通量测序技术在行业内最前沿的资讯信息和学术进展。

随着高通量测序技术在临床上的广泛应用,以及过去一年中高通量测序设备相继获得国家CFDA的审批,临床实验室如何建设、管理、运行以及实施临床检验项目成为业内最受关注的内容。贝瑞和康不但研发并推出一系列高通量测序临床检测实验室整体解决方案,同时在原有技术基础上,由美国Baylor医学院于福利教授牵头进一步研发解决无创染色体微缺失微重复的生物信息分析方法,将无创DNA产前检测进行升级,并首次分享升级后的NIPT-Plus 5000多例临床数据。

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会议首先由湖南省妇幼保健院王华院长开场。在去年国家颁布“二孩政策”后,临床面临门诊量和高龄孕妇双增加的局面,产前筛查和诊断比以往承受更大的压力,根据调查数据显示符合二孩政策的育龄妇女60%以上为高龄。我国母婴保健法表明35岁及以上高龄孕妇首先应建议介入性产前诊断,而在目前国内产前诊断机构严重匮乏的大环境下,产前诊断机构服务能力与临床需求严重矛盾,因此王华院长认为在这种大环境下应改变以孕妇年龄为介入性产前诊断适应症的观点。实施NIPT在减轻产前诊断压力的同时,提高对唐氏综合征的检出率,而且不能忽略NIPT与影像学等常规产前筛查等手段的结合。

王华1-1

王华  院长

温州市中心医院的唐少华主任拥有丰富的临床实验室高通量测序技术检验项目的经验,她介绍了标准化高通量测序实验室的建设规范和具体实施的NIPT、CNV-Seq、全外显子组测序等项目在产前筛查和遗传病诊断方面的应用。唐主任认为,目前以NextSeq CN500基因测序仪为核心的高通量测序平台已经开发出多种可本地化操作的临床检测项目,医院应该在此基础上充分发挥自主性,在谨慎应用综合分析的同时,打开视野将先进的医疗技术应用于广泛的临床实践当中。

唐少华 2-1

唐少华  主任

科诺安是贝瑞和康于2013年推出的CNV-Seq染色体畸变检测项目,经过这3年的发展已经广泛应用于临床,成为产前诊断、遗传病诊断的重要手段之一。哈尔滨医科大学附属第二医院的张蕊医师认为科诺安能够帮助医生找到更多发育异常的病因,通过对实际案例的精彩解读,与会嘉宾可以从应用角度最直接的体验到该技术对临床医生和患者的助益。贝瑞和康也于2015年正式推出了产品化的科诺安染色体拷贝数变异检测试剂盒,可在中心实验室开展本地化操作,方便临床自主开展更精细、更全面的染色体CNV检测。

张蕊 1-1

张蕊  医师

NIPT的下一步是什么?这恐怕是近一两年临床最为关心的问题。贝瑞和康的首席生物信息官于福利教授的报告则很好的回答了这一问题。于教授率领贝瑞和康信息研发团队创新了NIPT在胎儿微缺失微重复检测方面的生物信息分析方法,并以目前取得的5000多例实际临床样本做了初步检测效能的分析,展示了其中检出的胎儿DiGeorge综合征及Angleman综合征。

于教授说,通过核心的生物信息分析技术,贝瑞和康数据分析系统能够大大降低生物信息信噪比,优于国内外生物信息计算方法,为高通量测序结果提供精准解读。有在场专家表示高通量测序技术将逐渐成为临床实验室常规检验技术之一,医院也会要求临床的技术人员了解、熟知甚至掌握生物信息学的分析算法。贝瑞和康会继续深化临床检验产品化的工作,同时通过与美国贝勒医学院、阿里云、Seven Bridges的战略合作,将实验室技术与IT技术结合起来,为临床提供从样本到报告的更便捷更完备的整体解决方案。

于博 1-1

于福利  教授

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