How to solve genetic disease on a population scale

Introduction: the future of personalized medicine The future of personalized medicine will be built on a foundation of knowing all disease-causing genes and variants, and the ability to diagnose disease with precision informed by this knowledge. This “solving of disease,” in terms of gene discovery and resulting diagnostics, is made possible by advances in genome sequencing technology, and progress towards the “$1000 genome.” Here, we give an overview of the status of this, and the major global projects that are deploying genome sequencing to solve and diagnose disease on the population-scale. We further outline the key design considerations and ideal architecture for such projects, as a model for countries to follow as they fully personalize medicine for their unique genetic backgrounds. A critical point is the need for global enterprise service providers that can provide end-to-end support for countries building out their capacity for genomic medicine. This is essential for delivering the benefits of genomic medicine – lower healthcare costs and improved patient care – globally, as quickly as possible, by removing the risks, gaps, and bottlenecks that will otherwise stall or derail such large, complex projects. Personalized medicine is an emerging field that holds promise for major advances in prevention and care at the patient level, and major reductions in the cost of healthcare at the societal level. Of course, the trend towards personalization is not new: medicine always takes action at the level of treating individual patients, and tools such as medical imaging and blood-type matching incorporate a great deal of knowledge about the individual into medical practice. However, as powerful as such advances have been, they are still relatively crude compared to the ideal of complete information and action at the cellular and molecular level of the patient, put in context by the knowledge that comes from accumulating and analyzing such information across millions of patients. The new era of personalizing medicine will come from empowering the practice of medicine with this much deeper way of seeing and acting, and this much broader integration of knowledge. The ideal is precise and comprehensive assessment of each individual's biological state, and the use of this, and the knowledge of millions of other such patients, to chart the course of action for the individual, including the use of therapeutics tailored to their personal biology (Auffray et al ., 2010).