Multi-omics approaches for understanding gene-environment interactions in noncommunicable diseases: techniques, translation, and equity issues.

IF 4.3 3区 医学 Q2 GENETICS & HEREDITY Human Genomics Pub Date : 2025-01-31 DOI:10.1186/s40246-025-00718-9
Robel Alemu, Nigussie T Sharew, Yodit Y Arsano, Muktar Ahmed, Fasil Tekola-Ayele, Tesfaye B Mersha, Azmeraw T Amare
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Abstract

Non-communicable diseases (NCDs) such as cardiovascular diseases, chronic respiratory diseases, cancers, diabetes, and mental health disorders pose a significant global health challenge, accounting for the majority of fatalities and disability-adjusted life years worldwide. These diseases arise from the complex interactions between genetic, behavioral, and environmental factors, necessitating a thorough understanding of these dynamics to identify effective diagnostic strategies and interventions. Although recent advances in multi-omics technologies have greatly enhanced our ability to explore these interactions, several challenges remain. These challenges include the inherent complexity and heterogeneity of multi-omic datasets, limitations in analytical approaches, and severe underrepresentation of non-European genetic ancestries in most omics datasets, which restricts the generalizability of findings and exacerbates health disparities. This scoping review evaluates the global landscape of multi-omics data related to NCDs from 2000 to 2024, focusing on recent advancements in multi-omics data integration, translational applications, and equity considerations. We highlight the need for standardized protocols, harmonized data-sharing policies, and advanced approaches such as artificial intelligence/machine learning to integrate multi-omics data and study gene-environment interactions. We also explore challenges and opportunities in translating insights from gene-environment (GxE) research into precision medicine strategies. We underscore the potential of global multi-omics research in advancing our understanding of NCDs and enhancing patient outcomes across diverse and underserved populations, emphasizing the need for equity and fairness-centered research and strategic investments to build local capacities in underrepresented populations and regions.

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理解非传染性疾病中基因-环境相互作用的多组学方法:技术、翻译和公平问题。
心血管疾病、慢性呼吸系统疾病、癌症、糖尿病和精神健康障碍等非传染性疾病构成了重大的全球健康挑战,占全世界死亡人数和残疾调整生命年的大部分。这些疾病源于遗传、行为和环境因素之间复杂的相互作用,需要对这些动态进行彻底的了解,以确定有效的诊断策略和干预措施。尽管最近多组学技术的进步极大地增强了我们探索这些相互作用的能力,但仍然存在一些挑战。这些挑战包括多组学数据集固有的复杂性和异质性,分析方法的局限性,以及大多数组学数据集中对非欧洲遗传祖先的代表性严重不足,这限制了研究结果的普遍性并加剧了健康差异。本综述评估了2000年至2024年与非传染性疾病相关的多组学数据的全球格局,重点关注多组学数据整合、转化应用和公平考虑方面的最新进展。我们强调需要标准化协议,协调数据共享政策,以及人工智能/机器学习等先进方法来整合多组学数据并研究基因-环境相互作用。我们还探讨了将基因环境(GxE)研究的见解转化为精准医疗策略的挑战和机遇。我们强调全球多组学研究在增进我们对非传染性疾病的了解和改善不同和服务不足人群的患者结果方面的潜力,强调需要以公平和公平为中心的研究和战略投资,在代表性不足的人群和地区建立当地能力。
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来源期刊
Human Genomics
Human Genomics GENETICS & HEREDITY-
CiteScore
6.00
自引率
2.20%
发文量
55
审稿时长
11 weeks
期刊介绍: Human Genomics is a peer-reviewed, open access, online journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics. Topics covered by the journal include, but are not limited to: pharmacogenomics, genome-wide association studies, genome-wide sequencing, exome sequencing, next-generation deep-sequencing, functional genomics, epigenomics, translational genomics, expression profiling, proteomics, bioinformatics, animal models, statistical genetics, genetic epidemiology, human population genetics and comparative genomics.
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