The Role and Importance of Genome Sequencing in Prediction of Cancer Risk

M. Sadeghi, H. Pezeshk, R. Tusserkani, A. S. Zarchi, A. Malekpour, M. Foroughmand, S. Goliaei, M. Totonchi, N. Ansari-Pour
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Abstract

The role and relative importance of intrinsic and extrinsic factors in the development of complex diseases such as cancer still remains a controversial issue. Determining the amount of variation explained by these factors needs experimental data and statistical models. These models are nevertheless based on the occurrence and accumulation of random mutational events during stem cell division, thus rendering cancer development a stochastic outcome. We demonstrate that not only individual genome sequencing is uninformative in determining cancer risk, but also assigning a unique genome sequence to any given individual (healthy or affected) is not meaningful. Current whole-genome sequencing approaches are therefore unlikely to realize the promise of personalized medicine. In conclusion, since genome sequence differs from cell to cell and changes over time, it seems that determining the risk factor of complex diseases based on genome sequence is somewhat unrealistic, and therefore, the resulting data are likely to be inherently uninformative.
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基因组测序在预测癌症风险中的作用和重要性
内在和外在因素在复杂疾病如癌症的发展中的作用和相对重要性仍然是一个有争议的问题。确定由这些因素解释的变异量需要实验数据和统计模型。然而,这些模型是基于干细胞分裂过程中随机突变事件的发生和积累,从而使癌症的发展成为一个随机结果。我们证明,不仅个体基因组测序在确定癌症风险方面没有信息,而且为任何给定个体(健康或受影响)分配独特的基因组序列也没有意义。因此,目前的全基因组测序方法不太可能实现个性化医疗的承诺。总之,由于基因组序列因细胞而异,且随时间而变化,因此根据基因组序列确定复杂疾病的风险因素似乎有些不切实际,因此,所得数据可能本质上缺乏信息。
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