基因驱动的临床试验丰富化已被提议加速并降低开发新疗法的成本。这种方法的使用尚未得到全面审查。我们检索了 Ovid MEDLINE、Embase、Web of Science、Cochrane Library、ClinicalTrials.gov 和 WHO ICTRP 2010 年至 2023 年发表的文章。排除吸收、分布、代谢和消除药物遗传学研究和抗感染药物，我们发现 95 篇已完成的文章， 4 项终止，22 项正在进行，涉及 110 种药物，用于 48 种非肿瘤、非罕见综合征适应症。试验规模从 4 名参与者到 6,147 名参与者（中位数 72 名）不等，涵盖众多疾病领域，特别是神经病学 (30)、新陈代谢 (22) 和精神病学 (17)。 56 项已完成的研究 (60%) 达到了主要终点。总体而言，本次范围审查表明，基因富集试验在疾病领域是可行且可扩展的，并为研究药物的进一步开发或消耗提供关键信息。大型、适当设计的基于疾病、医院或人群的生物库无疑将促进这种精准药物开发方法。

Genetically driven clinical trial enrichment has been proposed to accelerate and reduce the cost of developing new therapeutics. Usage of this approach has not been comprehensively reviewed. We searched Ovid MEDLINE, Embase, Web of Science, Cochrane Library, ClinicalTrials.gov, and WHO ICTRP for articles published between 2010 and 2023. Excluding absorption, distribution, metabolism, and elimination pharmacogenetic studies and anti-infectives, we found 95 completed, 4 terminated, and 22 ongoing prospective genetically enriched trials on 110 drugs for 48 nononcology, nonrare syndromic indications. Trial sizes ranged from 4 to 6,147 participants (median 72) and covered numerous disease areas, particularly neurology (30), metabolism (22), and psychiatry (17). Fifty-six completed studies (60%) met their primary end point. Overall, this scoping review demonstrates that genetically enriched trials are feasible and scalable across disease areas and provide critical information for further development, or attrition, of investigational drugs. Large, appropriately designed disease-, hospital-, or population-based biobanks will undoubtedly facilitate this type of precision drug development approach.