Translational bioinformatics: linking knowledge across biological and clinical realms

Abstract

Nearly a decade since the completion of the first draft of the human genome, the biomedical community is positioned to usher in a new era of scientific inquiry that links fundamental biological insights with clinical knowledge. Accordingly, holistic approaches are needed to develop and assess hypotheses that incorporate genotypic, phenotypic, and environmental knowledge. This perspective presents translational bioinformatics as a discipline that builds on the successes of bioinformatics and health informatics for the study of complex diseases. The early successes of translational bioinformatics are indicative of the potential to achieve the promise of the Human Genome Project for gaining deeper insights to the genetic underpinnings of disease and progress toward the development of a new generation of therapies.

Figure 1

Bridging biological and clinical knowledge using translational bioinformatics. Bioinformatics approaches, focused on areas from molecules to populations (eg, clinical genomics, genomic medicine (‘personalized medicine’), pharmacogenomics, and genetic epidemiology), form the foundation of approaches that are used by translational bioinformatics (TBI; large bidirectional arrow). TBI thus bridges knowledge acquired from both the biological (using bioinformatics) and health (using health informatics) domains. Accordingly, the success of TBI will result in the crossing of the T1 translational barrier, and thus link innovations from bench to bedside.