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
