Genetic GIScience: Toward a Place-Based Synthesis of the Genome, Exposome, and Behavome.

Geoffrey M Jacquez, Clive E Sabel, Chen Shi
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Abstract

The exposome, defined as the totality of an individual's exposures over the life course, is a seminal concept in the environmental health sciences. Although inherently geographic, the exposome as yet is unfamiliar to many geographers. This article proposes a place-based synthesis, genetic geographic information science (Genetic GISc) that is founded on the exposome, genome+ and behavome. It provides an improved understanding of human health in relation to biology (the genome+), environmental exposures (the exposome), and their social, societal and behavioral determinants (the behavome). Genetic GISc poses three key needs: First, a mathematical foundation for emergent theory; Second, process-based models that bridge biological and geographic scales; Third, biologically plausible estimates of space-time disease lags. Compartmental models are a possible solution; this article develops two models using pancreatic cancer as an exemplar. The first models carcinogenesis based on the cascade of mutations and cellular changes that lead to metastatic cancer. The second models cancer stages by diagnostic criteria. These provide empirical estimates of the distribution of latencies in cellular states and disease stages, and maps of the burden of yet to be diagnosed disease. This approach links our emerging knowledge of genomics to cancer progression at the cellular level, to individuals and their cancer stage at diagnosis, to geographic distributions of cancer in extant populations. These methodological developments and exemplar provide the basis for a new synthesis in health geography: genetic geographic information science.

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遗传地理科学:基于地点的基因组、暴露组和行为组综合研究》(Toward a Place-Based Synthesis of the Genome, Exposome, and Behaviorome)。
暴露体(exposome)的定义是个人在一生中接触到的各种暴露,它是环境健康科学中的一个开创性概念。尽管暴露体本身具有地理学意义,但许多地理学家对它还很陌生。本文提出了一种基于地点的综合方法,即遗传地理信息科学(Genetic GISc),它建立在暴露组、基因组+和行为组的基础上。它能更好地理解人类健康与生物学(基因组+)、环境暴露(暴露组)及其社会、社会和行为决定因素(行为组)的关系。基因 GISc 提出了三个关键需求:第一,新兴理论的数学基础;第二,在生物尺度和地理尺度之间架起桥梁的基于过程的模型;第三,从生物学角度对时空疾病滞后的合理估计。分区模型是一种可能的解决方案;本文以胰腺癌为例,建立了两个模型。第一个模型是基于导致转移性癌症的突变和细胞变化级联建立的癌变模型。第二个模型根据诊断标准建立癌症分期模型。这些模型提供了细胞状态和疾病分期潜伏期分布的经验估计,以及尚未诊断的疾病负担图。这种方法将我们新兴的基因组学知识与细胞水平的癌症进展、诊断时的个人及其癌症阶段以及现有人群中癌症的地理分布联系起来。这些方法论的发展和范例为健康地理学的新综合方法:遗传地理信息科学奠定了基础。
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