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Translational genomics is not a spectator sport: A call to action

机译:转化基因组学不是一场观众运动:号召行动

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Despite political and popular rhetoric, changes in our health care system will occur because of pressures to control costs, promote prevention, and increase efficacy. As part of these pressures, there is increasing desire to leverage the power of genomic technologies to discover novel disease susceptibility genes and drug targets, and to tailor therapies that account for a person's genetic predisposition and disease etiology. Fortunately, the United States has the research infrastructure to realize this translational ge-nomics goal in both a timely and cost-effective manner. The question is whether the scientific and political leadership has the will to follow through. To maintain preeminence in this area and to keep the fruits of the human genome project in the public domain, what is needed in the United States is a national effort to coordinate existing large population-based studies and large-scale sequencing and analysis centers so as to form a "synthetic cohort" that spans cradle to grave (Box 1), whose participants are fully sequenced and whose wealth of longitudinal data, including high-quality data on clinical outcomes and response to treatment, are made rapidly available to the scientific community. It represents an avenue of enormous potential and is the only such avenue whereby progress beyond the incremental can be made in short order. President Obama should adopt and promote this initiative with the same vigor and imagination that President Kennedy promoted manned spaceflight to the moon.
机译:尽管有政治言论和流行言论,但由于控制成本,促进预防和提高疗效的压力,我们的医疗保健体系仍将发生变化。作为这些压力的一部分,人们越来越需要利用基因组技术的力量来发现新颖的疾病易感基因和药物靶标,并定制能说明人的遗传易感性和疾病病因的疗法。幸运的是,美国拥有研究基础设施,可以及时且经济高效地实现这一转化基因组学目标。问题是科学和政治领导者是否有意愿遵循。为了在这一领域保持卓越地位,并使人类基因组计划的成果保持在公共领域,美国需要做出国家努力,以协调现有的基于人口的大型研究以及大规模的测序和分析中心,以便形成了一个从摇篮到坟墓的“综合队列”(专栏1),参与者被充分排序,其纵向数据丰富,包括有关临床结果和治疗反应的高质量数据,已迅速提供给科学界。它代表着巨大的潜力,并且是唯一可以在短期内完成超越增量的进步的途径。奥巴马总统应该以肯尼迪总统提倡载人航天飞行到月球的同样的活力和想象力采取和推动这一倡议。

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