药物遗传学家

加利福尼亚拉霍拉——2000年6月人类基因序列草图刚刚公布时,美国总统比尔·克林顿曾踌躇满志地宣告,“即便不能治愈所有人类疾病,这项发现也将为绝大多数人类疾病的诊断、预防和治疗工作带来革命性的变化。” 十年后,满腔希望变成了失望,报纸的头版头条写道“基因图谱并未带来几种新的治疗方式”。

但是对人类基因研究所能带来潜在医学突破的悲观情绪是不切实际的期望造成的。 事实上,尽管人类并没有找到治愈最凶险疾病的“银弹”,但在基因药物作用(也叫基因药理学)领域却已经取得了引人瞩目的进步。

人体对处方药的反应变数由某些主要基因确定,而一项名叫全基因组关联研究(GWAS)的技术已经使确定这种基因的能力有了很大的提高。 人类总基因数约为60亿,但只要研究基因芯片中的约100万个基因(占基因总数的0.01%)就可以窥见人类基因的大部分奥妙。 芯片上的基因就好比邮编索引,是特别选定的信息丰富且有代表性的基因储藏库。 利用全基因组关联研究法,我们已经掌握了很多药物反应的生物学基础——其中既包括药物疗效,也包括主要副作用。

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