Prescrire Int. 2013 Jun;22(139):161-3.
The purpose of pharmacogenetics is to offer"personalised" treatment, in which a drug is only prescribed to patients in whom it is very likely to be effective, or to withhold a drug from patients at increased risk of adverse effects. Pharmacogenetics requires the use of genetic tests which, as with any other diagnostic test, must be evaluated for their discriminatory power (sensitivity, specificity, etc.). These evaluations are sometimes biased. Pharmacogenetics has been heralded as a means of tailoring cancer therapy. However large clinical trials with demanding clinical endpoints are often disappointing, despite initially encouraging results. Pharmacogenetic information is included in many summaries of product characteristics for non-cancer drugs, mainly in order to reduce the frequency of certain serious adverse effects. In summary, pharmacogenetics theoretically represents a step forward but must be evaluated in rigorous clinical trials, as is the case with all other "therapeutic tools".
药物遗传学的目的是提供“个性化”治疗，即只给极有可能对药物产生疗效的患者开药，或者不给有更高不良反应风险的患者用药。药物遗传学需要使用基因检测，与任何其他诊断检测一样，必须对其鉴别能力（敏感性、特异性等）进行评估。这些评估有时存在偏差。药物遗传学被誉为一种定制癌症治疗方案的方法。然而，尽管最初的结果令人鼓舞，但具有严格临床终点的大型临床试验往往令人失望。非癌症药物的许多产品特性摘要中都包含了药物遗传学信息，主要是为了减少某些严重不良反应的发生频率。总之，药物遗传学理论上是向前迈进的一步，但必须像所有其他“治疗工具”一样，在严格的临床试验中进行评估。
