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Abstract

Evolution of health careAt the beginning of the 20th century, the emerging sciences of physiology, pathology, chemistry, biochemistry, microbiology and radiology had the potential to change medicine from a practice based on mythology and anecdotal observations to one grounded in experimental science. Particularly powerful was the development of the germ theory, which identified microorganisms as the cause of many diseases prevalent at that time. The medical profession did not, however, easily incorporate science into practice until several decades later, when the development of academic medical centers enabled a science-based approach and the first major transformation of medical practice.The impact of science on medicine has been striking. The strengths of the reductionist method, which simplifies the concept of pathogenesis to the smallest number of causal factors, are shown by the burgeoning understanding, at a molecular level, of human biology and the underlying causes of many diseases. Spectacular medical therapies abound, and new technology has continued to enhance the capabilities of medicine. Nonetheless, the weaknesses of the reductionist scientific approach are also reflected in our health-care system in which complex chronic diseases account for most of the health-care expenditures. We have created a model that focuses on acute treatment instead of on the prevention of chronic disease (Figure 1).The reductionist focus on specific and single etiological causes of disease is a useful strategy to understanding pathogenesis, but is limited in truly explaining disease. Even for a microbial disease for which an etiological agent is known, the outcome of infection is highly dependent on the state of the host's immune system and their general health status. In genetic diseases resulting from well understood molecular mechanisms, such as sickle-cell disease, there is a highly variable course: some individuals have severe unremitting crises leading to death by their early twenties, whereas others live well beyond their fifties.Chronic diseases develop as a consequence of an individual's baseline susceptibility coupled with their exposure to environmental factors (Figure 2a). These may trigger initiating events, leading to the accumulation of pathological changes and the onset and progression of chronic disease ( Figure 2b). Today, most health-care expenditure is focused on the later stages of this process, long after the development of many underlying pathological changes. Until recently, it could be argued that the focus on treating disease was justified because the ability to predict, track, and prevent its onset was not technically feasible. This is no longer the case, and the emerging sciences of genomics, proteomics, metabolomics, medical technologies and informatics are revolutionizing the capability to predict events and enable intervention before damage occurs. Personalized risk prediction AbstractEmerging scientific technologies provide rich sources of predictive biomarkers, which could transform heal...

Genetics and Genomics

“…Effi cient diagnosis is presently a benchmark standard for health care quality and patient safety, and improved specifi city and sensitivity for clinical decision-making is a key feature of many programs of research (Bissonnette & Bergeron, 2006;Dietel & Sers, 2006;Institute of Medicine, 2001;Snyderman & Langheier, 2006). The ability to generate and analyze enormous amounts of unique biologic data is fueling three fi elds of clinical application: infectious disease, cancer, and biomarker discovery.…”

Biomarcadores y medicina personalizada en las enfermedades raras

“…Uno de estos elementos es la edad de inicio de la enfermedad y la afectación del conjunto de la biografía de la persona enferma. Sin embargo, la mayoría de los elementos biológicos y clínicos relacionados con la medicina personalizada y el modelo prospectivo de la enfermedad (Snyderman, 2009: Snyderman y Langheier, 2006Snyderman y Yoediono, 2006) son compartidos por las enfermedades raras y las enfermeda-a465 des comunes. La identificación de perfiles genómicos y biológicos en cada individuo, sea afectado o sano, es relevante para diseñar su cuidado y manejo clínico.…”

“…El objetivo es ofrecer una asistencia sanitaria adaptada a cada persona. La medicina personalizada, fundamentada en la integración de la información individual, a partir de la variación del genoma, la fisiología y el fenotipo celular en su interacción con el entorno personal, puede representar un modelo proactivo, preventivo y prospectivo de atención sanitaria (Snyderman, 2009;Snyderman y Langheier, 2006;Snyderman y Yoediono, 2006), por oposición a aquella que pivota alrededor de la enfermedad con un enfoque tradicional, reactivo, del estado de salud de los individuos. Este enfoque de la medicina personalizada afecta tanto a las enfermedades comunes como a las enfermedades raras.…”

Predictive Health: The Imminent Revolution in Health Care

“…Most descriptors, for obscure reasons, begin with “P” (eg, predictive, prospective, personalized, participatory). 9 We have chosen the term “predictive health” to emphasize prediction as opposed to diagnosis, and health as opposed to disease. 10 The elements of the concept are:

Health should be positively defined in the context of the entire human experience.

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