在重大抑郁症疾病的全球药物遗传学研究中量化样本代表性:系统性审查
Linsey Jackson1, Karina Delaney2, Justin Bobo2
1Department of Clinical and Translational Sciences, Mayo Clinic, Rochester, Minnesota, USA.
Clinical and translational science
|July 4, 2025
概括
对主要抑郁症 (MDD) 的药物基因组研究缺乏多样性. 黑人和西班牙裔/拉丁裔人群的代表性不足可能会限制人工智能驱动的精确医学在MDD治疗中的有效性.
科学领域:
- 精神病学是一个精神病学.
- 遗传学 是一个遗传学.
- 公共卫生 公共卫生
背景情况:
- 大型抑郁症 (MDD) 构成了重大的公共卫生挑战.
- 药物基因组学 (PGx) 通过识别影响药物反应的遗传变异,为个性化抗抑郁药物治疗提供了潜力.
- 人工智能 (AI) 和机器学习 (ML) 在精密精神病学中的整合需要多样化的人口数据来防止算法偏差.
研究的目的:
- 在药物基因组研究中系统地审查和量化人口多样性,重点是主要抑郁症 (MDD) 抗抑郁药.
- 评估现有的MDD PGx研究中各种种族和种族群体的代表性.
- 识别与精神病学AI/ML应用相关的药物基因组数据中的潜在差异.
主要方法:
- 进行了对390项MDD抗抑郁药物药基因组学研究的系统审查,选了5739.
- 从选定的研究中提取和分析人口人口统计数据.
- 将研究人口人口统计数据与美国和英国的国家人口普查数据进行比较,以确定代表性不足.
主要成果:
- 研究主要在欧洲,东亚和北美进行.
- 全球研究人口包括57.3%的白人,36.4%的亚洲人,1.7%的黑人,3.5%的西班牙裔/拉丁裔和0.1%的美洲原住民/土著参与者.
- 与人口普查数据相比,黑人和西班牙裔/拉丁裔人群在美国研究中代表性不足,而黑人和亚洲人群在英国研究中代表性不足. 只有16.2%的研究包括黑人或西班牙裔/拉丁裔患者.
结论:
- 现有的MDD的药物基因组研究严重集中在特定的地理区域,缺乏对不同人群的充分代表,特别是黑人和西班牙裔/拉丁裔人群.
- 这种代表性不足在AI/ML驱动的精准医学工具中存在算法偏差的风险,用于MDD治疗.
- 公平和可概括的药物基因组数据对于所有患有MDD的患者抗抑郁药物治疗方案的有效和公正的个性化至关重要.
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