Toowoomba Regional Clinical Unit, Medical School, Faculty of Medicine, The University of Queensland, Toowoomba, Queensland, Australia.
School of Public Health, Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
Mol Genet Genomic Med. 2024 Oct;12(10):e70018. doi: 10.1002/mgg3.70018.
This systematic review aims to highlight the scope of pharmacogenomics research within global Indigenous populations. This review also explores the barriers and facilitators of pharmacogenomics research within this population.
A systematic review of literature was conducted to identify and present an understanding of current empirical evidence demonstrating the conduct of genomics or pharmacogenomics research within global Indigenous populations (PROSPERO registration: CRD42021257226). Using key search terms, relevant databases were searched for articles published between January 2010 and July 2022. Screening, data extraction, and analysis was conducted using well-defined inclusion criteria. Quality assessment and risk of bias appraisal was conducted using the mixed methods appraisal tool. Indigenous community engagement and participation in genomics research was assessed using the social-ecological framework.
From the 427 articles identified, 77 articles met inclusion criteria and underwent full-text screening. Of these, 30 articles were included in the final review, with 16 being quantitative and 14 either qualitative or mixed methods studies. Most studies were conducted with native Indigenous populations from the United States of America (36%). Content analysis revealed that studies either explored genetic variations associated with disease in Indigenous populations (23%) or markers for drug metabolism (30%) or were designed to understand perspectives of genomics research within this population (47%). Perspectives included the exploration of the role of participants in research, benefits or outcomes achieved from participation in genomics research, and levels of Indigenous engagement and participation in genomics research.
This review highlights a growing gap in Indigenous genomics research globally. It presents several important considerations from Indigenous participants, identifying how researchers can co-create culturally safe and inclusive design, implementation, analysis, and subsequent outcomes of genomics research involving Indigenous people. Indigenous governance, self-determination and leadership is essential, with researchers required to be responsive to such fundamental partnerships for research to progress.
本系统评价旨在强调全球原住民群体中药物基因组学研究的范围。本评价还探讨了在该人群中进行药物基因组学研究的障碍和促进因素。
对文献进行了系统评价，以确定并了解目前的实证证据，证明在全球原住民群体中进行基因组学或药物基因组学研究（PROSPERO 注册：CRD42021257226）。使用关键搜索词，在 2010 年 1 月至 2022 年 7 月期间搜索相关数据库，以寻找发表的文章。使用明确的纳入标准进行筛选、数据提取和分析。使用混合方法评价工具进行质量评估和偏倚风险评价。使用社会-生态框架评估原住民社区参与基因组学研究的情况。
从确定的 427 篇文章中，有 77 篇文章符合纳入标准并进行了全文筛选。其中，30 篇文章纳入最终评价，其中 16 篇为定量研究，14 篇为定性或混合方法研究。大多数研究是针对来自美利坚合众国的本土原住民群体进行的（36%）。内容分析表明，这些研究要么探索了与原住民群体疾病相关的遗传变异（23%），要么探索了药物代谢的标志物（30%），要么旨在了解该人群对基因组学研究的看法（47%）。这些观点包括探索参与者在研究中的作用、参与基因组学研究获得的益处或结果，以及原住民在基因组学研究中的参与程度和参与度。
本评价强调了全球原住民基因组学研究的差距。它从原住民参与者那里提出了一些重要的考虑因素，确定了研究人员如何共同制定文化安全和包容的设计，实施、分析和随后的原住民基因组学研究结果。原住民治理、自决和领导至关重要，研究人员需要对这种基本的伙伴关系做出反应，以便研究取得进展。
