Value of Collaboration among Multi-Domain Experts in Analysis of High-Throughput Genomics Data

The recent explosion and ease of access to large-scale genomics data is intriguing. However, serious obstacles exist to the optimal management of the entire spectrum from data production in the laboratory through bioinformatic analysis to statistical evaluation and ultimately clinical interpretation. Beyond the multitude of technical issues, what stands out the most is the absence of adequate communication among the specialists in these domains. Successful interdisciplinary collaborations along the genomics pipeline extending from laboratory experiments to bioinformatic analyses to clinical application are notable in large scale, well managed projects such as The Cancer Genome Atlas. However, in certain settings in which the various experts perform their specialized research activities in isolation, the siloed approach to their research contributes to the generation of questionable genomic interpretations. Such situations are particularly concerning when the ultimate endpoint involves genetic/genomic interpretations that are intended for clinical applications. In spite of the fact that clinicians express interest in gaining a better understanding of clinical genomic applications, the lack of communication from upstream experts leaves them with a serious level of discomfort in applying such genomic knowledge to patient care. This discomfort is especially evident among healthcare providers who are not trained as geneticists, in particular primary care physicians. We offer some initiatives that have potential to address this problem, with emphasis on improved and ongoing communication among all the experts in these fields, constituting a comprehensive genomic "pipeline" from laboratory to patient.