An introduction to translational informatics and the future of knowledge-driven healthcare

Emergent and multidisciplinary research paradigms have fundamentally transformed biomedical science and the delivery of clinical care. This shift has been manifested in a number of ways, including the rapid growth and increasing availability of high-throughput bio-molecular instrumentation and analysis platforms, innovative clinical research programs intended to accelerate the exchange of knowledge between various stakeholders, efforts to deliver precision or personalized healthcare informed by the unique molecular phenotypes of patients, and a growing focus on patient-centered research that occurs at the point-of-care and beyond. A common theme spanning such transformative changes is the use of rigorous and systematic approaches to the collection, management, integration, analysis, and dissemination of large-scale and heterogeneous data sets. Unfortunately, the absence of well-established theoretical and practical frameworks intended to address such needs remains a major impediment to the realization of a translational and knowledge-driven healthcare system, in which the best possible scientific evidence is used to inform the care of every patient. In this vacuum, the development of integrative clinical or translational research paradigms is significantly limited by the propagation of both data and expertise silos. In this and subsequent chapters of this book, we will present a broad framework and specific examples of how the deep integration of biomedical informatics with both biomedical research and clinical care delivery is essential to overcoming such barriers and achieving the benefits of a knowledge-based approach to the delivery of high-performance, quality, safe, and individually tailored healthcare.