Bridging the Valley of Death, Medical Genetics 2.0, and other Tales of Translational Genomics Research
Holistic molecular scanning of individuals has become a robust strategy to develop new ways to effectively diagnose and treat disease. The ability to elucidate the root pathogenesis of a host of monogenic and complex genetic disorders is evolving at an unprecedented rate, and the high-throughput application of such technologies to monogenic models of common disease as well as complex genetic disease cohorts will be described. The real challenge is not identifying genetic drivers of disease, but rather understanding how to practically chaperone these discoveries into the clinic. For example, whole-genome association studies provide an order of magnitude better refinement of relevant drug targets/networks than traditional strategies at a fraction of the cost. Recent examples have shown a 75% efficacy rate in pre-clinical models for drugs selected based on WGA results and in silico networking exercises alone. Similarly, linking genetic variants to somatic expression profiling network analysis can provide ever increasing accuracy in node identification and directionality of networks for drug discovery efforts. The diagnostic paradigms that we have used for monogenic disease are also evolving for risk variants of moderate effect size as applied to complex genetic disease predisposition testing. If we accept that prevention, focused screening, and reduction of adverse drug effects for complex genetic disease will compress the time of morbidity for an individual, and that across a population this will improve health and health economics, then we have a mandate to aggressively explore an operational schema to deliver robust and accurate risk information to individuals for actionable common diseases as well as provide preventive medicine clinical decision support to the clinical community.
Dr. Stephan will discuss his preventive genomic risk delivery infrastructure and the new paradigm for interpretation of this information that his team has developed. In addition, large prospective trials to show clinical efficacy of genetic risk stratification and intervention are ongoing. Finally, efforts at integration of data streams at the point of care to enable the personalized medicine era to take root to improve public health will be presented.
See-D-Stephan’s-Presentation-Translational-Genomics-Research
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