探索全球土著居民药物基因组学实证研究的系统性综述。

IF 1.5 4区 医学 Q4 GENETICS & HEREDITY Molecular Genetics & Genomic Medicine Pub Date : 2024-10-01 DOI:10.1002/mgg3.70018
Bushra Farah Nasir, Ritwika Vinayagam, Luciana Massi, Shivashankar H Nagaraj, Maree Toombs, Kym M Rae
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引用次数: 0

摘要

背景:本系统综述旨在强调全球土著居民中药物基因组学研究的范围。本综述还探讨了在该人群中开展药物基因组学研究的障碍和促进因素:我们对文献进行了系统性综述,以确定并了解当前在全球土著居民中开展基因组学或药物基因组学研究的实证证据(PROSPERO 注册:CRD42021257226)。使用关键检索词,在相关数据库中检索了 2010 年 1 月至 2022 年 7 月间发表的文章。采用定义明确的纳入标准进行筛选、数据提取和分析。采用混合方法评估工具进行了质量评估和偏倚风险评估。采用社会生态框架对土著社区参与基因组学研究的情况进行了评估:在确定的 427 篇文章中,有 77 篇符合纳入标准并进行了全文筛选。其中,30 篇文章被纳入最终审查,16 篇为定量研究,14 篇为定性研究或混合方法研究。大多数研究是针对美国本土土著居民进行的(36%)。内容分析显示,这些研究要么探讨了与土著居民疾病相关的基因变异(23%)或药物代谢标记物(30%),要么旨在了解土著居民对基因组学研究的看法(47%)。研究视角包括探讨参与者在研究中的作用、参与基因组学研究的益处或成果,以及土著居民参与和参加基因组学研究的程度:本综述强调了全球土著基因组学研究中日益扩大的差距。结论:本综述强调了全球土著基因组学研究中不断扩大的差距,提出了土著参与者的几个重要考虑因素,明确了研究人员如何共同创造文化上安全且具有包容性的设计、实施、分析,以及有土著人参与的基因组学研究的后续成果。土著人的管理、自决和领导力至关重要,研究人员必须对这些基本伙伴关系做出回应,研究才能取得进展。
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A Systematic Review Exploring Empirical Pharmacogenomics Research Within Global Indigenous Populations.

Background: 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.

Methodology: 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.

Results: 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.

Conclusions: 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.

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来源期刊
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
4.20
自引率
0.00%
发文量
241
审稿时长
14 weeks
期刊介绍: Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.
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