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精准医学解决早产黑白种族差异的前景与陷阱。

The promise and pitfalls of precision medicine to resolve black-white racial disparities in preterm birth.

机构信息

Division of Neonatology, The Children's Hospital of Philadelphia at the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Section of Neonatology, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.

出版信息

Pediatr Res. 2020 Jan;87(2):221-226. doi: 10.1038/s41390-019-0528-z. Epub 2019 Aug 5.

Abstract

Differences in preterm birth rates between black and white women are the largest contributor to racial disparities in infant mortality. In today's age of precision medicine, analysis of the genome, epigenome, metabolome, and microbiome has generated interest in determining whether these biomarkers can help explain racial disparities. We propose that there are pitfalls as well as opportunities when using precision medicine analyses to interrogate disparities in health. To conclude that racial disparities in complex conditions are genetic in origin ignores robust evidence that social and environmental factors that track with race are major contributors to disparities. Biomarkers measured in omic assays that may be more environmentally responsive than genomics, such as the epigenome or metabolome, may be on the causal pathway of race and preterm birth, but omic observational studies suffer from the same limitations as traditional cohort studies. Confounding can lead to false conclusions about the causal relationship between omics and preterm birth. Methodological strategies (including stratification and causal mediation analyses) may help to ensure that associations between biomarkers and exposures, as well as between biomarkers and outcomes, are valid signals. These epidemiologic strategies present opportunities to assess whether precision medicine biomarkers can uncover biology underlying perinatal health disparities.

摘要

黑人和白人之间早产率的差异是导致婴儿死亡率种族差异的最大因素。在当今精准医学时代,对基因组、表观基因组、代谢组和微生物组的分析引发了人们的兴趣,即这些生物标志物是否有助于解释种族差异。我们认为,在使用精准医学分析来探究健康差异时,既有陷阱也有机遇。如果得出复杂疾病的种族差异是由遗传因素引起的结论,那就忽略了一个强有力的证据,即与种族相关的社会和环境因素是造成差异的主要原因。在组学检测中测量的生物标志物可能比基因组学更能反映环境,例如表观基因组或代谢组学,可能处于种族和早产的因果途径上,但组学观察性研究也存在与传统队列研究相同的局限性。混杂因素可能导致关于组学与早产之间因果关系的错误结论。方法学策略(包括分层和因果中介分析)可能有助于确保生物标志物与暴露之间以及生物标志物与结果之间的关联是有效的信号。这些流行病学策略提供了机会来评估精准医学生物标志物是否可以揭示围产期健康差异背后的生物学。

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