Horizon Scanning for Translational Genomic Research Beyond Bench to Bedside

Abstract

The dizzying pace of genomic discoveries is leading to an increasing number of clinical applications. However, very little translational research is ongoing beyond Bench to Bedside to assess validity, utility, implementation and outcomes of such applications. Here we report cross sectional results of ongoing horizon scanning of translational genomic research conducted between May 16, 2012 and May 15, 2013. Based on a weekly, systematic query of PubMed, we created a curated set of 505 beyond bench-to-bedside research publications, including 312 original research articles, 123 systematic and other reviews, 38 clinical guidelines, policies and recommendations, and 32 papers describing tools, decision support and educational materials. Most papers (62%) addressed a specific genomic test or other health application; almost half of these (n=180) were related to cancer. We estimate that these publications account for 0.5% of reported human genomics and genetics research during the same time. These data provide baseline information to track the evolving knowledge base and gaps in genomic medicine. Continuous horizon scanning is crucial for an evidence-based translation of genomic discoveries into improved health care and disease prevention.