Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
The University of Melbourne, Australia.
Yearb Med Inform. 2020 Aug;29(1):115-120. doi: 10.1055/s-0040-1701975. Epub 2020 Apr 17.
Most diseases result from the complex interplay between genetic and environmental factors. The exposome can be defined as a systematic approach to acquire large data sets corresponding to environmental exposures of an individual along her/ his life. The objective of this contribution is to raise awareness within the health informatics community about the importance of dealing with data related to the contribution of environmental factors to individual health, particularly in the context of precision medicine informatics.
This article summarizes the main findings after a panel organized by the International Medical Informatics Association - Exposome Informatics Working Group held during the last MEDINFO, in Lyon (France) in August 2019.
The members of our community presented four initiatives (PULSE, Digital exposome, Cloudy with a chance of pain, Wearable clinics), providing a detailed view of current challenges and accomplishments in processing environmental and social data from a health research perspective. Projects illustrate a wide range of research methods, digital data collection technologies, and analytics and visualization tools. This reinforces the idea that this area is now ready for health informaticians to step in and contribute their expertise, leading the application of informatics strategies to understand environmental health problems.
The featured projects illustrate applications that use exposome data for the investigation of the causes of diseases, health care, patient empowerment, and public health. They offer a rich overview of the expanding range of applications that informatics is finding in the field of environmental health, with potential impact in precision medicine.
大多数疾病是遗传和环境因素复杂相互作用的结果。外显子组可以定义为一种系统的方法，用于获取对应于个体一生中环境暴露的大量数据集。本文的目的是在健康信息学社区中提高对处理与环境因素对个体健康贡献相关数据的重要性的认识，特别是在精准医学信息学的背景下。
本文总结了在 2019 年 8 月于法国里昂举行的国际医学信息学协会 - 外显子组信息学工作组组织的一次小组讨论后的主要发现。
我们社区的成员提出了四项倡议（PULSE、Digital exposome、Cloudy with a chance of pain、Wearable clinics），从健康研究的角度详细介绍了处理环境和社会数据的当前挑战和成就。这些项目展示了广泛的研究方法、数字数据收集技术以及分析和可视化工具。这进一步证明了该领域现在已经准备好让健康信息学家介入并贡献他们的专业知识，引领信息学策略在环境健康问题中的应用。
所介绍的项目说明了使用外显子组数据来研究疾病病因、医疗保健、患者赋权和公共卫生的应用。它们提供了一个信息学在环境健康领域应用的扩展范围的丰富概述，具有在精准医学中产生潜在影响的潜力。
