Department of Medicine, Unit of Computational Medicine, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Solna, Stockholm, Sweden.
Pediatr Res. 2013 Apr;73(4 Pt 2):508-13. doi: 10.1038/pr.2013.19. Epub 2013 Jan 31.
Medicine and pediatrics are changing and health care is moving from being reactive to becoming preventive. Despite rapid developments of new technologies for molecular profiling and systems analysis of diseases, significant hurdles remain. Here, we use the clinical setting of congenital heart block (CHB) to uncover and illustrate key informatics challenges impeding the development of a systems medicine approach emphasizing the prevention and prediction of disease. We find that there is a paucity of useful bioinformatics tools enabling the integrative analysis of different databases of molecular information and clinical sources in a disease context such as CHB, contrasting with the current emphasis on developing bioinformatics tools for the analysis of individual data types. Moreover, informatics solutions for managing data, such as the Integrating Biology and the Bedside (i2b2) or Stanford Translational Research Integrated Database Environment, require serious software engineering support for the maintenance and import of data beyond the capabilities of clinicians working with CHB. Hence, there is an urgent unmet need for user-friendly tools facilitating the integrative analysis and management of omics data and clinical information. Pediatrics represents an untapped potential to execute such a systems medicine program in close collaboration with clinicians and families who are keen to do what is needed for their children to prevent and predict diseases and nurture wellness.
医学和儿科学正在发生变化，医疗保健正从被动反应转变为主动预防。尽管疾病的分子谱分析和系统分析的新技术发展迅速，但仍存在重大障碍。在这里，我们以先天性心脏阻滞 (CHB) 的临床环境为例，揭示并说明了阻碍系统医学方法发展的关键信息学挑战，该方法强调预防和预测疾病。我们发现，缺乏有用的生物信息学工具来整合分析 CHB 等疾病背景下不同的分子信息数据库和临床来源，这与当前强调开发用于分析单个数据类型的生物信息学工具形成鲜明对比。此外，用于管理数据的信息学解决方案，如整合生物学和床边 (i2b2) 或斯坦福转化研究综合数据库环境，需要严重的软件工程支持，以便在 CHB 临床医生的能力之外维护和导入数据。因此，迫切需要用户友好的工具来促进组学数据和临床信息的整合分析和管理。儿科学代表了一种潜力，它可以与热衷于为其子女预防和预测疾病以及培养健康所需的临床医生和家庭密切合作，执行这样的系统医学计划。
