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首页 » Science报道 » Sci Transl Med.:新的全基因组测序两天内可诊断新生儿中的遗传性疾病

Sci Transl Med.:新的全基因组测序两天内可诊断新生儿中的遗传性疾病

来源:美国科学促进会 2012-10-07 14:03

据一项新的研究报告,新的全基因组测序技术仅在几天之内就能对ICU中的新生儿的遗传性疾病进行诊断。该技术主要的革命性特点是速度(在一个为时50小时的周转时间内就可获得遗传学的检验结果,而用目前的方法需要几个星期的时间才能获得这些结果)。这种基因测试可缩短获得诊断的时间,快速启动任何可得到的治疗,并减少焦虑的父母获得遗传咨询的时间。这种叫做SSAGA的技术可让任何的医生通过几次点击就能开出一个复杂的基因组检验的要求。在获取一滴血并提取了宝宝的DNA之后,医生们可按下代表他们在一个病人身上所见的某疾病特征的按钮。电脑接着会将那些内容绘制成为大约有7500个基因和遗传性疾病的完整的集合(开出检验要求的医生对于其中的许多遗传疾病并不熟悉)。该系统接着会寻找可解释宝宝疾病的DNA编码的改变。

该整个过程可在大约2天内完成,而且对于在新生儿重症监护病房中的使用是理想的。研究人员用这种新技术能够在他们所测试 的4个宝宝中对3个做出明确的诊断。这种快速的诊断对宝宝的健康可产生巨大的作用。大约有500种遗传性疾病可以得到治疗。例如,苯丙酮尿症或PKU就是一种会影响新生儿并导致智力障碍和癫痫发作的遗传病。然而,早期诊断和后续治疗(进食一种苯丙氨酸这一氨基酸阙如的饮食)可使得孩子具有正常的智力发育和寿命。该研究团队接下来计划将该测试扩大至100个或以上的宝宝以准确地了解该测试确切的效益、成本及问题(如果有的话)。研究人员还相信他们能够在今年底的时候将总的检测时间从50小时削减成36个小时。(生物谷Bioon.com)

Rapid Whole-GenomeSequencing for Genetic-Disease Diagnosis in Neonatal Intensive Care Units

Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, Kingsmore SF.

Monogenic diseases are frequent causes of neonatal morbidity and mortality, and disease presentations are often undifferentiated at birth. More than 3500 monogenic diseases have been characterized, but clinical testing is available for only some of them and many feature clinical and genetic heterogeneity. Hence, an immense unmet need exists for improved molecular diagnosis in infants. Because disease progression is extremely rapid, albeit heterogeneous, in newborns, molecular diagnoses must occur quickly to be relevant for clinical decision-making. We describe 50-hour differential diagnosis of genetic disorders by whole-genome sequencing (WGS) that features automated bioinformatic analysis and is intended to be a prototype for use in neonatal intensive care units. Retrospective 50-hour WGS identified known molecular diagnoses in two children. Prospective WGS disclosed potential molecular diagnosis of a severe GJB2-related skin disease in one neonate; BRAT1-related lethal neonatal rigidity and multifocal seizure syndrome in another infant; identified BCL9L as a novel, recessive visceral heterotaxy gene (HTX6) in a pedigree; and ruled out known candidate genes in one infant. Sequencing of parents or affected siblings expedited the identification of disease genes in prospective cases. Thus, rapid WGS can potentially broaden and foreshorten differential diagnosis, resulting in fewer empirical treatments and faster progression to genetic and prognostic counseling.

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