基因组医学——进展、陷阱与前景。
Genomic Medicine-Progress, Pitfalls, and Promise.
机构信息
Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
出版信息
Cell. 2019 Mar 21;177(1):45-57. doi: 10.1016/j.cell.2019.02.003.
In the wake of the Human Genome Project (HGP), strong expectations were set for the timeline and impact of genomics on medicine-an anticipated transformation in the diagnosis, treatment, and prevention of disease. In this Perspective, we take stock of the nascent field of genomic medicine. In what areas, if any, is genomics delivering on this promise, or is the path to success clear? Where are we falling short, and why? What have been the unanticipated developments? Overall, we argue that the optimism surrounding the transformational potential of genomics on medicine remains justified, albeit with a considerably different form and timescale than originally projected. We also argue that the field needs to pivot back to basics, as understanding the entirety of the genotype-to-phenotype equation is a likely prerequisite for delivering on the full potential of the human genome to advance the human condition.
在人类基因组计划（HGP）之后，人们对基因组学对医学的影响充满了强烈的期望——预计将在疾病的诊断、治疗和预防方面发生变革。在本观点中，我们对新兴的基因组医学领域进行了评估。在哪些方面（如果有的话），基因组学兑现了这一承诺，或者成功的道路是否清晰？我们在哪些方面做得不够好，原因是什么？有哪些意想不到的发展？总的来说，我们认为，围绕基因组学对医学的变革潜力的乐观情绪仍然是合理的，尽管其形式和时间表与最初预期的有很大不同。我们还认为，该领域需要回到基础，因为理解基因型到表型方程的全貌可能是充分发挥人类基因组潜力以改善人类状况的必要前提。
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