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非洲的个性化医疗:将实践带入人群异质性领域。

Individualized Medicine in Africa: Bringing the Practice Into the Realms of Population Heterogeneity.

作者信息

Hussein Ayman A, Hamad Reem, Newport Melanie J, Ibrahim Muntaser E

机构信息

Unit of Diseases and Diversity, Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.

Department of Global Health and Infection, Brighton and Sussex Medical School, University of Sussex, Brighton, United Kingdom.

出版信息

Front Genet. 2022 Apr 14;13:853969. doi: 10.3389/fgene.2022.853969. eCollection 2022.

Abstract

The declared aim of "personalized", "stratified" or "precision" approaches is to place individual variation, as ascertained through genomic and various other biomarkers, at the heart of Scientific Medicine using it to predict risk of disease or response to therapy and to tailor interventions and target therapies so as to maximize benefit and minimize risk for individual patients and efficiency for the health care system overall. It is often contrasted to current practices for which the scientific base is rooted in concepts of a "universal biology" and a "typical" or "average patient" and in which variation is ignored. Yet both approaches equally overlook the hierarchical nature of human variation and the critical importance of differences between populations. Impact of genetic heterogeneity has to be seen within that context to be meaningful and subsequently useful. In Africa such complexity is compounded by the high effective size of its populations, their diverse histories and the diversity of the environmental terrains they occupy, rendering analysis of gene environment interactions including the establishment of phenotype genotype correlations even more cumbersome. Henceforth "Individualized" methods and approaches can only magnify the shortcomings of universal approaches if adopted without due regard to these complexities. In the current perspective we review examples of potential hurdles that may confront biomedical scientists and analysts in genomic medicine in clinical and public health genomics in Africa citing specific examples from the current SARS-COV2 pandemic and the challenges of establishing reference biobanks and pharmacogenomics reference values.

摘要

“个性化”“分层”或“精准”方法宣称的目标是,将通过基因组和其他各种生物标志物确定的个体差异置于科学医学的核心,利用这些差异预测疾病风险或治疗反应,并调整干预措施和靶向治疗,以便为个体患者最大化获益、最小化风险,并提高整个医疗保健系统的效率。这一目标常与当前的做法形成对比,当前做法的科学基础源于“普遍生物学”和“典型”或“平均患者”的概念,忽视了个体差异。然而,这两种方法都同样忽视了人类变异的层级性质以及群体间差异的关键重要性。必须在这一背景下看待遗传异质性的影响,它才会有意义,进而有用。在非洲,由于其人口的高有效规模、多样的历史以及他们所占据的环境地形的多样性,这种复杂性更加突出,使得对基因与环境相互作用的分析,包括建立表型与基因型的相关性,变得更加繁琐。因此,如果在没有充分考虑这些复杂性的情况下采用“个体化”方法和途径,只会放大通用方法的缺点。在当前的视角下,我们回顾了非洲临床和公共卫生基因组学中基因组医学领域生物医学科学家和分析人员可能面临的潜在障碍的例子,并引用了当前新冠疫情中的具体例子以及建立参考生物样本库和药物基因组学参考值所面临的挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0399/9047898/46f8b9c02ad2/fgene-13-853969-g001.jpg

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