Introduction: A genetic biomarker to select which drug will work best for which patients with rheumatic diseases is a goal of pharmacogenetic precision medicine approaches and one that patients and the public support. However, studies to date have yielded inconsistent findings with no robustly replicated or clinically useful genetic biomarkers emerging.Areas covered: Using studies investigating biomarkers to predict response to tumor necrosis factor inhibitor therapies in rheumatoid arthritis as an exemplar, we consider factors that reduce the power to detect such predictive biomarkers, including non-adherence, immunogenicity, the use of clinical outcome measures comprising composite scores and sample size. We argue that the biologic therapies were developed to target joint inflammation and so the outcome measure should be closer to the biology and, ideally, should be a biological measure. Given that heritability studies have shown a substantial genetic contribution, there is merit in designing studies to optimize the chance of identifying robust genetic markers and that includes testing drug levels for adherence.Expert opinion: Ultimately, we think that genetics will be used as part of an algorithm to assess likely response to individual drugs but that other factors will also be important including clinical and environmental factors.

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风湿病的个性化医学：我们离能够使用遗传生物标志物来预测对 TNF 抑制剂的反应还有多远？

简介：一种用于选择哪种药物最适合风湿病患者的遗传生物标志物是药物遗传精准医学方法的一个目标，也是患者和公众支持的目标。然而，迄今为止的研究得出了不一致的结果，没有出现稳健复制或临床上有用的遗传生物标志物。 涵盖领域：使用研究生物标志物的研究来预测类风湿性关节炎对肿瘤坏死因子抑制剂治疗的反应作为范例，我们考虑降低功效的因素检测此类预测性生物标志物，包括不依从性、免疫原性、使用包括综合评分和样本量在内的临床结果指标。我们认为，生物疗法是针对关节炎症而开发的，因此结果测量应该更接近生物学，并且理想情况下应该是生物学测量。鉴于遗传性研究已显示出巨大的遗传贡献，设计研究以优化识别稳健遗传标记的机会是有价值的，其中包括测试药物依从性水平。 专家意见：最终，我们认为遗传学将被用作一种评估对个别药物的可能反应的算法，但其他因素也很重要，包括临床和环境因素。