让人类基因组工程人性化

冷泉港—自2000年人类基因组首次被排序以来,基因组科学便开始了日新月异的进展。DNA测序技术的快速进步意味着我们不久就能负担得起人类基因组的解码了。事实上,不出几年,你只要花1000美元出头,就能获得人类基因组序列。不幸的是,当前生物医学研究完全没有对此做好准备。

研究者总是认为,他们的任务是揭示新生物和遗传学,至于将生物和遗传学转化为临床成果,那是其他人的事情。据此,许多遗传学家从事着“大科学”基因组学,包括专注人类普遍遗传变异的全基因组相关研究。

但是,众所周知,某些变异可以发生于家族中,显著增加罹患某些疾病的风险——比如乳腺癌、镰状细胞贫血和囊细胞纤维症。不幸的是,很多人类分子遗传学家完全没有承担起任何减轻此类疾病总体负担的责任。

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