Guest post by Ralph Snyderman, M.D., Chancellor Emeritus and James B. Duke Professor of Medicine, Duke University and Chairman, Proventys, Inc.
The practice of medicine is currently in the early stages of a transformation made capable by major advances in science, technology, and know-how which is enabling personalized health care. Genomics, proteomics, systems biology, informatics, micro and nano-processing, etc., are creating capabilities that are already revolutionizing health care. Whereas the sciences of the 1900s facilitated the understanding of disease and supported the goal to “find it and fix it,” the new sciences are enabling the personalization, prediction, and prevention of many chronic diseases. Development of disease is based on an individual’s inherited baseline susceptibilities which are modified by exposure to environmental factors. While previous approaches to medicine have been focused on reversing disease events, emerging approaches are dynamic and recognize that diseases develop over time and their development can often be modified or prevented.
Recognizing the dynamic basis of disease development has profound implications for the practice of medicine and indicates that care should be proactive and account for each individual’s unique characteristics. Moreover, understanding the dynamic nature of disease development envisions a healthcare approach where each individual’s susceptibility or resistance to disease is quantified and tracked over time to determine whether a disease is progressing or regressing. With the ability to assess an individual’s disease susceptibility and identify factors for tracking disease progression, a strategic approach to health care can be developed to enhance health and minimize disease — one that is personalized, predictive, preventive, and engages the individual in their care; e.g., “personalized health care.” This latter point is critical as an individual’s behavior is often far more important for preventing or enhancing disease development than any specific therapeutic intervention by a healthcare provider.
Personalized health care applies the concepts of systems biology, personalized, predictive, preventive, and participatory care (e.g., P4 Medicine,) and health planning to customize care across the continuum from health promotion to disease treatment. Personalized health care is based on the premise that each individual is born with a unique genetic inheritance and that health or disease is a consequence of how this background is modified by environmental exposure over time. Even though a great deal of an individual’s genome is shared by all, variations result in each person having unique susceptibilities or resistances to various diseases as well as shared and unique strengths for enhancing health and fitness. Since an individual’s current clinical status can be assessed and their risks for disease evaluated, the approach to health care can be changed from identifying and responding to disease to a strategic approach where disease risks are quantified and, where possible, prevented by personalized health planning. If diseases develop, they are identified early and characterized mechanistically in order to treat them appropriately, thereby minimizing their adverse impacts.
Personalized health care is based on the scientific foundation that recognizes the dynamic relationship between genetic inheritance, environmental exposures, and systems biology. Wherever possible, the best predictive tools are used to identify each individual’s health risks, track their risks over time, identify the specific mechanism of their disease, and determine the best therapeutic approaches directed to their needs. Care is mediated through health planning and coordinated care. Personalized health care can be used to enhance health, prevent disease, track its development, intervene early, and manage disease most effectively if it occurs.
The personalized health plan is fundamental to personalized health planning. It is the instrument used to implement an individual’s care over a specified time. For primary care, the individual’s current health status is evaluated using the best appropriate clinical technologies along with the best available health risk technologies. Depending on the individual’s health status, their degree of risks for any given disease, their age, and other factors, the patient and their provider would develop objectives to improve health and prevent disease in partnership with a coordinated health system. Tracking factors would be identified to monitor progression or regression of disease or perhaps to monitor the onset of disease. These factors could be as simple as weight, BMI, measurement of blood pressure or biomarkers, including the broad array of emerging personalized medicine tools. The personalized health plan can also be used for secondary prevention or disease management where it is focused on the patient’s specific clinical condition defined mechanistically by using personalized medicine tools. Characterizing disease mechanistically rather than phenotypically allows the introduction of more personalized approaches for tracking disease progress and for targeting the most appropriate therapeutic interventions. For an increasing number of applications, therapies targeted at specific diseases can be identified with companion diagnostics thus enabling treatment tailored to the individual’s needs.
In conclusion, science and technology are creating new understandings of health and disease as well as capabilities to predict, prevent, and treat disease based on the individual’s needs. Personalized health care is the application of clinical know-how and personalized medicine technologies to assess an individual’s health risks, track disease progression or regression, and treat it most appropriately when it occurs. Personalized health care is a means to focus the increasing capabilities of personalized medicine on a coherent model of health prevention and disease avoidance. Personalized health care can begin today and will improve care and facilitate the development and expansion of new technologies.