Is There a Right Time to Know? The Right Not to Know and Genetic Testing in Children
Is There a Right Time to Know? The Right Not to Know and Genetic Testing in Children
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DOI：
10.1111/jlme.12115
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发表时间：
2014-03-01
影响因子：
2.1
通讯作者：
Howard, Heidi Carmen
中科院分区：
文献类型：
--
作者：
Borry, Pascal;Shabani, Mahsa;Howard, Heidi Carmen
在过去的几十年里，遗传和基因组研究都取得了很大的进展。人类基因组计划的发展增加了我们对疾病遗传基础的了解，并极大地推动了新技术的发展，使广泛的基因测试成为可能，并增加了以前无法获得的遗传信息。这一指数级进化的两个例子是，下一代测序技术在临床上的应用越来越多，以及直接面向消费者的基因测试的商业服务不断扩大。首先，下一代测序技术(即高通量和大规模并行的DNA测序技术)的快速发展大大降低了对整个人类基因组进行测序所需的成本和时间。这些技术越来越多地被用于临床环境，目的是诊断目标测序方法无法解释的假定遗传来源的情况。
In the last few decades, great progress has been made in both genetic and genomic research. The development of the Human Genome Project has increased our knowledge of the genetic basis of diseases and has given a tremendous momentum to the development of new technologies that make widespread genetic testing possible and has increased the availability of previously inaccessible genetic information. Two examples of this exponential evolution are the increasing implementation of next-generation sequencing technologies in the clinical context and the expanding commercial offer of genetic tests directly-to-consumers.Firstly, the rapid development of next generation sequencing technologies (i.e., high-throughput and massively parallel DNA sequencing technologies) has substantially reduced both the cost and the time required to sequence an entire human genome. These technologies are increasingly being used in the clinical setting with the goal of diagnosing conditions of presumed genetic origin that cannot be explained by targeted sequencing approaches.