无处不在的下一代测序的未来承诺和担忧。
Future Promises and Concerns of Ubiquitous Next-Generation Sequencing.
机构信息
Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724.
University of California Davis Comprehensive Cancer Center, Sacramento, California 95817.
出版信息
Cold Spring Harb Perspect Med. 2019 Sep 3;9(9):a025783. doi: 10.1101/cshperspect.a025783.
Since the first draft of the human genome was completed, next-generation DNA sequencing technology has dramatically reduced the cost of sequencing a genome. Computational analysis has not advanced as fast as the instruments that generate the data, and storing all the data remains a challenge. Nevertheless, personal genomics has arrived and is already being used in the clinic. Significant privacy issues remain, however, and these are not widely understood. The Genetic Information Non-Discrimination Act (GINA) needs to be extended and the probabilistic nature of genetic predisposition must be better explained to both the public and physicians. We must also be wary that this promising new technology and its applications do not amplify existing healthcare disparities.
自从人类基因组的第一份草案完成以来，新一代 DNA 测序技术极大地降低了测序基因组的成本。计算分析的进展速度并没有像生成数据的仪器那样快，而且存储所有数据仍然是一个挑战。尽管如此，个人基因组学已经到来，并且已经在临床上得到应用。然而，仍然存在重大的隐私问题，而且这些问题并没有得到广泛的理解。《遗传信息非歧视法案》（GINA）需要得到扩展，并且必须向公众和医生更好地解释遗传易感性的概率性质。我们还必须警惕，这项有前途的新技术及其应用不会扩大现有的医疗保健差距。
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