Complete Genomics, Inc, Mountain View, California 94043, USA.
Genet Med. 2011 Mar;13(3):188-90. doi: 10.1097/GIM.0b013e31820f16e6.
Rapid technological advances are decreasing DNA sequencing costs and making it practical to undertake complete human genome sequencing on a large scale for the first time. Disease studies that involve sequencing hundreds of patient genomes are underway. The all-inclusive sequencing price per genome is expected to reach $1000 over the next few years and will likely decline further in the following years. This dramatic price decline will herald widespread personal genome sequencing and lead to significant improvements in human health and reduced health care costs. Key to realizing these benefits will be medical genomics' and systems biology's success in providing increasing contextual interpretation of biological and medical effects of the detected sequence variants in a genome. Given the substantial potential benefits and the manageability of the health and discrimination risks involved with the possible misuse of this information, we propose that governments and insurance companies support or even require personal genome sequencing. Critical to the widespread acceptance of personal genome sequencing, however, will be the need to educate physicians and the public about the realistic benefits and risks of such an analysis to prevent overinterpretation and misuse of this valuable information.
快速的技术进步正在降低 DNA 测序成本，使得首次大规模进行全人类基因组测序成为可能。目前正在进行涉及对数百个患者基因组进行测序的疾病研究。在未来几年内，每个基因组的全面测序价格预计将达到 1000 美元，并且在未来几年内可能会进一步下降。这种戏剧性的价格下降将预示着广泛的个人基因组测序，并将导致人类健康的显著改善和医疗保健成本的降低。实现这些好处的关键在于医学基因组学和系统生物学的成功，它们为基因组中检测到的序列变异的生物和医学影响提供了越来越多的上下文解释。鉴于潜在的巨大益处，以及可能滥用这些信息所带来的健康和歧视风险的可管理性，我们建议政府和保险公司支持甚至要求进行个人基因组测序。然而，要广泛接受个人基因组测序，就必须教育医生和公众了解这种分析的实际益处和风险，以防止对这种有价值信息的过度解释和滥用。
