Preventive Medicine and Technological AdvancesBy David Kersenobich | Wed, 07/06/2022 - 09:00
Technological advances, such as DNA sequencing, proteomics, imaging and wireless health monitoring services, have made it possible to determine the genetic predisposition to disease and have gained wide use, such as in oncology, in order to develop more effective and individualized treatment strategies — personalized medicine— enhancing clinical precision. There is growing interest in applying these genetic tests to predict the risk of complex diseases that evidence a significant individual variation to disease development and treatment. As direct-to-consumer testing is becoming increasingly available and affordable, these improvements have resulted in new paradigms and challenges. Overall, medicine has largely followed the one-size-fits-all treatment strategy. What has changed in the past few years is that technologies can now help to conduct a multitude of complex measurements on clinical samples. Aided by analytics, these technologies have been providing increasingly greater knowledge of the pathophysiology of diseases, resulting in the application of personalized medicine.
These improvements have shown great potential in the collection of phenotypic data, which can be superimposed on genomic data to deliver more accurate and personalized preventive care ahead of its use in oncology, in particular, or in the diagnosis, prevention and treatment of chronic non-transmissible diseases. The goal of a personalized care program using genetic data would be to monitor individual risk factors and predict the onset of chronic diseases with the goal of delaying or preventing the onset of disease. However, one of the challenges in the future is to better understand the complex interaction between genes and modifiable environmental risk factors whose determining role is not yet well established. Another aspect is how to scale preventive or personalized medicine to the population level; that is community-level preventive medicine, which is eminently multidisciplinary.
We are in a changing world. The world's population continues to grow and the proportion of the elderly is increasing, with the recognition of susceptibility to health risks not only in early life but also in late life. Environmental factors and gene-environment interactions are thought to play a more important role in the etiology of many diseases than previously believed. Indeed, the progression of many common disorders involves a complex interplay of multiple factors, including numerous different genes and environmental factors. Genetic-environmental cohort studies are greatly needed with the purpose of identifying risk factors that cannot be discovered by conventional epidemiological methodologies. To date, cohort studies have reported some promising results. However, the findings do not yet have sufficient clinical significance for the development of accurate and personalized preventive medicine. As an example, there have been some promising preliminary studies in terms of obesity prevention or the study of pharmacogenomics exploring the impact of genomic variability on drug responsiveness.
The role of health workers at the primary care level needs to be reinforced in order to be able to recognize risk factors in the community and take appropriate measures, often involving relevant public health authorities. Prevention has a close functional relationship not only with its associated paramedical disciplines but also with the agencies and authorities of public health. It compels knowledge of reporting requirements and identification of parties involved in the process of adaptation. Primary care physicians should be able to provide well-informed advice to their patients on what is known about their disease; patients want to know what needs to be done about the myriad concerns that appear in the press and other sources of such information. The challenge is how to provide information on these topics in an efficient and easy-to-learn way. At the same time, there is a need to foster targeted education and establish algorithms for reference and contra-reference with tertiary medical institutions.
Traditional medical practice has been "reactive" (the doctor participates when the disease appears). The theoretical (free networks of scale and complex systems), technological (high-efficiency "omics" technologies) and conceptual (biological systems) advances over the last decade, allow us to visualize the transition to an "anticipatory" medicine, based on health (not disease). That constitutes personalized, predictive, preventive and participatory medicine. As for prevention, we must first consider its social utility. It is necessary to modify the preventive medicine curriculum in the training program of clinical medicine. Four types of obstacles appear as significant barriers: defective evaluation; insufficient dialogue between physicians, stakeholders and decision-makers; lack of visibility and, finally, conceptions and perceptions of innovation as a result of a limited vision.
All these technological advances need the incorporation of new concepts of primary health care, which has clear objectives around population health. It requires the implementation of data collection systems and sentinel programs that allow the design and performance of the implemented measures to be evaluated with transparency and scientific rigor. An indispensable part is the preparation of human resources for these purposes, including training programs for general physicians in a preventive medicine course as well as taking advantage of virtual meetings and telemedicine for distance medical assistance. It is necessary to strengthen the integration of multidisciplinary teams beyond the health workers whose dynamics of operation can benefit from technological advances, such as strategies for the collection and analysis of data in a systematized way.
The future challenges associated with personalized medicine are not only the way in which it is implemented or how well individuals are characterized but also in the way in which personalized medicines are crafted and examined to show their utility. Research in the field of preventive medicine that so far has focused on gene-environment interaction, needs to be expanded to include, among other strategies, aspects of implementation research, including determinants, strategies, and outcomes designed to improve the specification, rigor, reproducibility, and testable causal pathways involved in implementation of preventive or personal research projects. It is necessary to make preventive medicine more personalized.