Nishi Akihiro, Milner Danny A, Giovannucci Edward L, Nishihara Reiko, Tan Andy S, Kawachi Ichiro, Ogino Shuji
a Yale Institute for Network Science , New Haven , CT , USA.
b Department of Sociology , Yale University , New Haven , CT , USA.
Expert Rev Mol Diagn. 2016;16(1):11-23. doi: 10.1586/14737159.2016.1115346. Epub 2015 Dec 4.
The precision medicine concept and the unique disease principle imply that each patient has unique pathogenic processes resulting from heterogeneous cellular genetic and epigenetic alterations and interactions between cells (including immune cells) and exposures, including dietary, environmental, microbial and lifestyle factors. As a core method field in population health science and medicine, epidemiology is a growing scientific discipline that can analyze disease risk factors and develop statistical methodologies to maximize utilization of big data on populations and disease pathology. The evolving transdisciplinary field of molecular pathological epidemiology (MPE) can advance biomedical and health research by linking exposures to molecular pathologic signatures, enhancing causal inference and identifying potential biomarkers for clinical impact. The MPE approach can be applied to any diseases, although it has been most commonly used in neoplastic diseases (including breast, lung and colorectal cancers) because of availability of various molecular diagnostic tests. However, use of state-of-the-art genomic, epigenomic and other omic technologies and expensive drugs in modern healthcare systems increases racial, ethnic and socioeconomic disparities. To address this, we propose to integrate molecular pathology, epidemiology and social science. Social epidemiology integrates the latter two fields. The integrative social MPE model can embrace sociology, economics and precision medicine, address global health disparities and inequalities, and elucidate biological effects of social environments, behaviors and networks. We foresee advancements of molecular medicine, including molecular diagnostics, biomedical imaging and targeted therapeutics, which should benefit individuals in a global population, by means of an interdisciplinary approach of integrative MPE and social health science.
精准医学概念和独特疾病原理表明，每个患者都有独特的致病过程，这些过程源于细胞遗传和表观遗传的异质性改变以及细胞（包括免疫细胞）与暴露因素（包括饮食、环境、微生物和生活方式因素）之间的相互作用。作为人口健康科学和医学的核心方法领域，流行病学是一门不断发展的科学学科，它可以分析疾病风险因素，并开发统计方法以最大限度地利用关于人群和疾病病理学的大数据。不断发展的分子病理流行病学（MPE）跨学科领域可以通过将暴露因素与分子病理特征联系起来、加强因果推断以及识别具有临床影响的潜在生物标志物，来推动生物医学和健康研究。MPE方法可应用于任何疾病，不过由于有各种分子诊断测试，它最常用于肿瘤性疾病（包括乳腺癌、肺癌和结直肠癌）。然而，现代医疗系统中使用最先进的基因组学、表观基因组学和其他组学技术以及昂贵药物，加剧了种族、民族和社会经济差异。为解决这一问题，我们提议整合分子病理学、流行病学和社会科学。社会流行病学整合了后两个领域。综合社会MPE模型可以涵盖社会学、经济学和精准医学，解决全球健康差异和不平等问题，并阐明社会环境、行为和网络的生物学效应。我们预见分子医学的进步，包括分子诊断、生物医学成像和靶向治疗，通过综合MPE和社会健康科学的跨学科方法，将使全球人口中的个体受益。
