ELSI/Samples Committee, 1000 Genomes Project, and Institute for Human Genetics, University of California at San Francisco, Box 2911, San Francisco, CA 94143, USA.
Genome Med. 2010 Jan 21;2(1):3. doi: 10.1186/gm124.
The 1000 Genomes Project, an international collaboration, is sequencing the whole genome of approximately 2,000 individuals from different worldwide populations. The central goal of this project is to describe most of the genetic variation that occurs at a population frequency greater than 1%. The results of this project will allow scientists to identify genetic variation at an unprecedented degree of resolution and will also help improve the imputation methods for determining unobserved genetic variants that are not represented on current genotyping arrays. By identifying novel or rare functional genetic variants, researchers will be able to pinpoint disease-causing genes in genomic regions initially identified by association studies. This level of detailed sequence information will also improve our knowledge of the evolutionary processes and the genomic patterns that have shaped the human species as we know it today. The new data will also lay the foundation for future clinical applications, such as prediction of disease susceptibility and drug response. However, the forthcoming availability of whole genome sequences at affordable prices will raise ethical concerns and pose potential threats to individual privacy. Nevertheless, we believe that these potential risks are outweighed by the benefits in terms of diagnosis and research, so long as rigorous safeguards are kept in place through legislation that prevents discrimination on the basis of the results of genetic testing.
1000 基因组计划是一个国际合作项目，正在对来自不同世界人群的约 2000 个人的全基因组进行测序。该项目的核心目标是描述在人群频率大于 1%时发生的大多数遗传变异。该项目的结果将使科学家能够以空前的分辨率识别遗传变异，并有助于改进用于确定当前基因分型阵列上未表示的未观察到遗传变异的推断方法。通过鉴定新的或罕见的功能遗传变异，研究人员将能够确定最初通过关联研究确定的基因组区域中的致病基因。这种详细的序列信息水平还将提高我们对进化过程和塑造我们今天所知人类物种的基因组模式的了解。新数据也将为未来的临床应用奠定基础，例如疾病易感性和药物反应的预测。然而，随着全基因组序列以可承受的价格提供，这将引发伦理问题，并对个人隐私构成潜在威胁。然而，我们认为，只要通过立法保持严格的保障措施，防止基于遗传测试结果的歧视，这些潜在风险在诊断和研究方面是值得的。
