How is the intervention in medicine justified? In an educational forum? To answer this question it is necessary to start from afar. What is medicine? According to Wikipedia, medicine is “the science that studies diseases of the human body, so as to try to ensure the health of people, especially with regard to the definition, prevention and treatment of diseases, as well as various methods of treating diseases. Alleviate the suffering of the sick. (Even those who are no longer able to on recovery).
The latest advances in genetics tell us that, since every human disease has a genetic basis, it is sufficient to read 262,000 “pages” of genetic code (equivalent to a 175-volume encyclopedia) to understand the origin of diseases, identify a molecular target and find the appropriate drug to prevent its clinical effects. Genetics tells us that each of us differs by at least 500 of those pages that correspond to the millions of letters in our DNA, and so far we have classified more than 600 million variations, many of which are directly or indirectly responsible for human diseases, and obviously That we are talking about an essential aspect of the medicine of the future, which is the true “precision” medicine, which takes into account individual variance in the environment, lifestyle and genetics, so in a sense it is built “tailored” to each person.
Some numbers can help us understand the importance of this perspective even for those who are not in this sector. “Rare” diseases, for example, in at least 80% of cases have a genetic origin, and a simple reading of DNA now makes it possible to diagnose up to 60% of unnamed diseases. 10% of serious COVID-19 patients do not end up in intensive care for the virus, but for some faulty DNA message that, in the case of a viral infection, does not allow the activation of immune defense mechanisms.
And if, in addition to “reading” our DNA, we could rewrite it, we could even eliminate more than 10,000 diseases due to individual DNA mutations. This is not science fiction: we already have diseases that have been treated in this way, such as thalassemia, hemophilia, sickle cell anemia, birth defects of immunity, etc. It is indeed technically possible, even if, as can be immediately understood, involves serious ethical problems, to correct the defective genes of the child before birth.
So the prospects are very broad, but the main obstacle is the lack of training in this sector, because precision medicine is different from the medical model of disease-based treatment. It is a science comprising technology, zoology, evolutionary biology and agriculture that requires for development the collection and integration of a large amount of information about individuals (big data), technologies and environmental components for each person. In addition to updating the doctors on duty, many of whom have knowledge of genetics limited to concepts acquired at the time of university study, a time that is often an eternity for this specialty, the introduction of new professional figures indispensable to the management and analysis of genomic data and the creation of relevant ministries and agencies for an updateable archive For open access guidelines, sponsored by the Scientific Societies, for the use of genomics in clinical practice.
Then the SARS-CoV-2 coronavirus pandemic introduced a new paradigm, highlighting a “collective” rather than “individual” type of health, reinforcing the fact that precision medicine is a set of complex and integrated networks. In 2016 the magazine temper nature Compare medicine very effectively with “network”And call her Network Medicine He described it as a three-storey building: the ground floor, i.e. the foundations (metabolic network), with upper floor molecular connections (disease network), which is the plan of diseases that arise from the foundations and are connected to each other; Upstairs ( social network), where we find the person associated with the “foundations” of the ground floor which represents the effect of the environment on our genes (epigenetics) and this is the (chemical) dress that our genes wear. To these three floors we can also add wellness network, This is the set of actions (lifestyles) and behaviors that make it possible to positively influence the “foundations”, For example, exercise and nutrition.
For the immediate future and to face the challenges that lie ahead from a broader perspective, and to take advantage of advances in precision medicine, it is necessary to intervene firmly and insightfully into some of the bottom lines. First of all, clinicians must gain adequate preparation to use the most innovative and pervasive technologies, which are defined as disruptive agents because they have the potential to change the world. This is certainly not an easy task, as disruptive technologies are complex in nature and rapidly evolving. Training and continuous updating of health professionals should include emerging disciplines such as genetics and genomics; One of the priorities is to strengthen the indispensable training activity of degree and master’s courses, including academic programs aimed at training a “research doctor”, defining the role and commitment of universities in the permanent training of medical and health personnel: structural training in the sector must be rethought from An innovative perspective, with “laboratory” learning paths, also in the remote or blended setting, with the aim of allowing the acquisition and consolidation of skills (theoretical and applied) in the field of health, life and health.
Initial and ongoing training programs should be reoriented towards acquiring a solid medical culture, constantly updating, and appropriate skills to carry work through operations, with high interdisciplinary integration; But if “science is unparalleled,” as Ivan Kavici argues in a recent book, it is critical that science itself be disseminated, understood, and supported.
covid-19 pandemic She made this very clear to us, leading us to discover one’s centrality health literacy, able to increase the interest, knowledge and awareness of the population in the field of health since childhood. This is one of the EU’s “strong” themes, which explains the urgent need to operationalize joint degree courses among European universities, to create – from the logic of emergency – a stronger and more coordinated response to the health needs of tomorrow’s society, but above all requires the dissemination of health education in schools as a method Life, the need to train teachers for this delicate task.
(Dr. Simonetta Marsiglisi, to whom we have many thanks, collaborated)
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