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首页> 外文期刊>Pharmacogenomics and Personalized Medicine >Diversity In Precision Medicine And Pharmacogenetics: Methodological And Conceptual Considerations For Broadening Participation
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Diversity In Precision Medicine And Pharmacogenetics: Methodological And Conceptual Considerations For Broadening Participation

机译：精密医学和药物遗传学中的多样性：扩大参与范围的方法论和概念考虑

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Genome-wide association studies (GWAS) have revealed important links between genetic markers across the human genome and phenotypic traits, including risk factors for disease. Studies have shown that GWAS continue to be overwhelmingly conducted on people of primarily European descent, despite the fact that the vast majority of human genomic variation is present in non-European populations such as those in Africa. To enhance our understanding of diversity in the pharmacogenomics and precision medicine literature, this review provides a window into the representation of biogeographical populations that have been studied for pharmacogenetic traits, such as enzyme metabolism and adverse drug response. Using the Medical Subject Headings (MeSH) ontology search terms in PubMed, studies were identified that are either population-based, or include a description of the study population on the basis of biological or environmental diversity. The results of this scoping review indicate that the majority of relevant papers (95% of studies tagged in PubMed with MeSH terms “precision medicine” or “pharmacogenetics”, N=23,701) are not annotated with the “population group” MeSH term, suggesting that the majority of studies in this literature are not population-based, or the authors chose not to describe the study population. Among those studies related to pharmacogenetics or precision medicine that are specific to human population groups (N=1006) and were included in the analysis after filtering and screening on eligibility criteria (N=192), the majority of single-population studies included individuals of African, Asian, and European origins, or genetic ancestry. Combining studies of single and multiple populations, 33% involve participants of Asian origin or ancestry; 30% European; 24% African; 10% Hispanic or Latino; and 3% American Indian or Alaska Native. These data provide a baseline for future comparison, indicating which biogeographic groups have informed the pharmacogenomic knowledgebase specific to diverse human populations. Challenges and potential solutions to improve diversity in the field and in genetics research more broadly are discussed.
机译：全基因组关联研究（GWAS）揭示了整个人类基因组的遗传标记与表型特征（包括疾病的危险因素）之间的重要联系。研究表明，尽管绝大多数人类基因组变异存在于非欧洲人口中，例如非洲，但GWAS仍然继续以欧洲血统为主。为了加深我们对药物基因组学和精密医学文献多样性的理解，本综述提供了一个窗口，可以了解已针对药物遗传学特征（例如酶代谢和药物不良反应）进行研究的生物地理种群的代表。使用PubMed中的医学主题词（MeSH）本体搜索词，可以识别基于人群的研究，或者根据生物学或环境多样性对研究人群进行描述。范围界定审查的结果表明，大多数相关论文（在PubMed中用MeSH术语“精密医学”或“药物遗传学”标记的研究中> 95％，未标注“人口群体” MeSH术语，N = 23,701），这表明该文献中的大多数研究不是基于人群的，或者作者选择不描述研究人群。在那些与药物遗传学或精密医学有关的研究中，这些研究是针对特定人群的（N = 1006），并在根据合格标准进行筛选和筛选后被纳入分析（N = 192），大多数单人群研究包括以下人群：非洲，亚洲和欧洲血统或遗传血统。结合对单个和多个人群的研究，有33％的受试者来自亚洲血统或祖先。 30％欧洲;非洲24％; 10％西班牙裔或拉丁裔;和<3％的美洲印第安人或阿拉斯加原住民。这些数据为将来的比较提供了基线，表明哪些生物地理学组已为特定人群提供了药物基因组学知识库。讨论了在更广泛的领域和遗传学研究中改善多样性的挑战和潜在解决方案。

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