Verbelen M, Collier D A, Cohen D, MacCabe J H, Lewis C M
SGDP Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Discovery Neuroscience Research, Eli Lilly and Company Ltd, Lilly Research Laboratories, Erl Wood Manor, Surrey, UK.
Pharmacogenomics J. 2015 Oct;15(5):461-6. doi: 10.1038/tpj.2015.5. Epub 2015 Mar 3.
Clozapine is the only evidence-based therapy for treatment-resistant schizophrenia, but it induces agranulocytosis, a rare but potentially fatal haematological adverse reaction, in less than 1% of users. To improve safety, the drug is subject to mandatory haematological monitoring throughout the course of treatment, which is burdensome for the patient and one of the main reasons clozapine is underused. Therefore, a pharmacogenetic test is clinically useful if it identifies a group of patients for whom the agranulocytosis risk is low enough to alleviate monitoring requirements. Assuming a genotypic marker stratifies patients into a high-risk and a low-risk group, we explore the relationship between test sensitivity, group size and agranulocytosis risk. High sensitivity minimizes the agranulocytosis risk in the low-risk group and is essential for clinical utility, in particular in combination with a small high-risk group.
氯氮平是治疗难治性精神分裂症唯一有循证依据的疗法,但在不到1%的使用者中会诱发粒细胞缺乏症,这是一种罕见但可能致命的血液学不良反应。为提高安全性,该药物在整个治疗过程中都要接受强制性血液学监测,这对患者来说负担很重,也是氯氮平未得到充分使用的主要原因之一。因此,如果药物遗传学检测能识别出一组粒细胞缺乏症风险足够低、可减轻监测要求的患者,那么它在临床上是有用的。假设一个基因标记将患者分为高风险组和低风险组,我们探讨检测灵敏度、组规模与粒细胞缺乏症风险之间的关系。高灵敏度可将低风险组中的粒细胞缺乏症风险降至最低,对于临床应用至关重要,尤其是在与规模较小的高风险组结合使用时。