ReviewPersonalized medicine. Closing the gap between knowledge and clinical practice
Introduction
Personalized medicine (PM) encompasses a broad and evolving field informed by a patient distinctive information and biomarkers profile (i.e., clinical, genetic, genomic, and epigenetic/environmental) [1]. Thus, PM is committed to survey, monitor and diagnose risk to provide and present patients with specific treatments spanning from their molecular and particular outline. Though, PM jargon is evolving and some semantic interpretations exist (e.g., personalized, individualized, precision), its main underlying premise is to approach and overhaul medicine by employing integrative biomarkers (short for biological markers) to treat patients not diseases (Fig. 1). In addition, the convergence of the digital revolution and systems approaches to wellness and disease is beginning to lead a proactive P5 medicine, that is predictive, preventive, personalized and participatory medicine, at the population level [2].
The ideal setting of any health care system is to maintain and avoid disease costs in disease prone unaffected individuals, a concept seemingly far from the current reality seen in developing countries, also called third-world countries. The optimal expenditure of loss-prevention activities was outlined as “self-protection” by Ehrlich and Becker [3]. Further, they also showed that insurance and prevention could either substitute or complement each other. According to their premises, primary prevention regroups all the actions, which reduce the likelihood of falling ill [3]. On the contrary, secondary prevention refers to actions that decrease the consequences of an illness (i.e., screening strategies) [3]. A tertiary prevention activity focuses on managing rehabilitation strategies and programs to recover functionality, in order to facilitate incorporation back into society.
Struggling with their economical capabilities developing countries offer health care services to an ill and undiagnosed population; thus making preventive medicine feel as a delicacy that only organized and well established health care systems are able to offer. Nevertheless, a generalized preventive screening strategy, will not save health care costs unless it is targeted to selected individuals within a population [4], [5].
Optimal drug selection and dosage for disease are limited by the unawareness of the unique genetic and environmental/epigenetic burden each individual pertains. The role of PM in this scenario entails the usage of systemic information of an individual, by using his medical and familial history, environmental/epigenetic expositions and genetic/genomic factors, to envisage the likelihood and possible disease outcome [6]. Environmental exposures to exogenous agents arise from both external and internal sources. The exposome [7] represents the combined environmental exposures from all sources that reach the internal chemical environment involving the totality of exposures from conception onwards, as a matter of critical interest for understanding the environmental causes of disease.
First world countries are optimizing health care and changing disease burden by introducing PM and focusing on costly pathologies such as autoimmune diseases (ADs), but can this apparently costly approach be introduced in developing nations? [6]. This document is aimed to connect and describe the gap between PM in developing countries and the processes of PM that can be offered in health care systems with limited resources in diseases like rheumatoid arthritis (RA) and type 1 diabetes (T1D).
Section snippets
From personalized to precision medicine
PM aims to recognize which interventions will be most effective on the disease outcome of an affected individual based on environmental/epigenetic ecology, and their genetic and molecular landscape. This encompasses the measurement of disease predisposition, screening and early diagnosis, prognosis assessment, pharmacogenomic measurements, and disease course monitoring. All of these interventions might be able to target given populations limiting the burden of the disease, and in some cases
PM applied on autoimmune diseases
Medicine can be practiced from the first patient contact in a personalized matter if health care providers are able to perceive the course of disease at that moment of time as a sum of internal (genome, epigenome) and external (autoimmune ecology) factors. The ideal scenario is practicing primary prevention in a population at risk, but when disease is fully established the application of secondary and tertiary prevention individualized for each set of patients is a must [5].
One of the drivers
Perspectives in PM from a developing country
In developing countries, where health care and social expenditure are limited, going back to ideas left in the past while using existent tools offer an excellent approximation to push forward PM. Economic limitations and how to establish an equal distribution of resources among a public health care system are a constant struggle for most governments. Socialized medicine has brought the possibility of health care to many individuals in some countries, but it has widened the gap between the
Conclusion
PM is committed to survey, monitor and diagnose risks to provide individuals with information about their clinical status based on their unique genetic and environment background [101]. The everlasting vision of a predictive and preventive framework for disease assessment has kept the medical sciences pushing the search toward new means to manage health care and translate basic research into clinical practice. Nonetheless, as we dig deeper into the cell and disease mechanisms, the path is not
Funding
This work was supported by the School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia.
Take-home messages
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Personalized medicine is the practice medicine as it once used to be in the past using the current biotechnological tools.
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P5 medicine includes prediction, prevention, personalized and participatory medicine, at the population level.
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Personalized medicine can be offered in health care systems with limited resources.
Conflict of interest
No disclosures.
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2020, Autoimmunity ReviewsCitation Excerpt :Since the global health care expenditures are constantly increasing and reaching non-sustainable thresholds in many jurisdictions, health economic studies of direct and indirect costs will be needed to demonstrate that investments in screening for pre-RA and early interventions or therapies are not out-weighed by clinical outcomes. However, based on remarkable health care expenditures on the management of RA [2,126], there is a significant opportunity to achieve meaningful savings [89,101,142,143]. Several studies have compared the cost per response of different treatment options in RA [144,145], especially abatacept vs. adalimumab [144,146].