Putting science over supposition in the arena of personalized genomics

We explore the process of going from genome discovery to evaluation of medical impact and discuss emerging challenges faced by the scientific community. the need to confront these challenges is heightened in a climate where unregulated genetic tests are being marketed directly to the general public(1,2). Specifically, we characterize the delicate balance involved in deciding when genomic discoveries such as gene-disease associations are 'ready' to be evaluated as potential tools to improve health. We recommend that a considerable research commitment be made now in order to successfully bridge the rapidly widening gap between gene-disease association research and the critical (but slower and more involved) investigations into public health and clinical utility. Lastly, we describe a large, ongoing, early-phase research project, the multiplex Initiative, which is examining issues related to the utility of genetic susceptibility testing for common health conditions.