Summary
Objectives
To review current excellent research and trend in the field of bioinformatics and translational informatics with direct application in the medical domain.
Method
Synopsis of the articles selected for the IMIA Yearbook 2012.
Results
Six excellent articles were selected in this Yearbook’s section on Bioinformatics and Translational Informatics. They exemplify current key advances in the use of patient information for translational research and health surveillance. First, two proof-of-concept studies demonstrated the cross-institutional and -geographic use of Electronic Health Records (EHR) for clinical trial subjects identification and drug safety signals detection. These reports pave ways to global large-scale population monitoring. Second, there is further evidence on the importance of coupling phenotypic information in EHR with genotypic information (either in biobank or in gene association studies) for new biomedical knowledge discovery. Third, patient data gathered via social media and self-reporting was found to be comparable to existent data and less labor intensive. This alternative means could potentially overcome data collection challenge in cohort and prospective studies. Finally, it can be noted that metagenomic studies are gaining momentum in bioinformatics and system-level analysis of human microbiome sheds important light on certain human diseases.
Conclusions
The current literature showed that the traditional bench to bedside translational research is increasing being complemented by the reverse approach, in which bedside information can be used to provide novel biomedical insights.
Keywords
Medical informatics - International Medical Informatics Association - yearbook - bioinformatics - translational informatics - patient data - electronic health record - metagenomics
