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There precision medicine it is not the one that uses the scalpel or the laser in a particularly accurate way, it is an innovative method that aims to "package" ad hoc treatments and therapies for each patient. Of the treatments that fit perfectly, on every person who must be treated, therefore, the precision lies in responding to the needs of the single patient and not seen as belonging to this category of patients.
To apply the precision medicine a lot of research is needed, combining genetic data and disease information from hundreds of thousands of people to find treatments tailored to the individual and most effective. We can hear about "precision medicine" also in terms of "Personalized medicine", it is always and in any case super-personalized therapies or treatments that in some cases could radically change the future of medicine digital healthcare and the lives of many.
Precision medicine: definition
Understanding what it is, if we want to define it in the space of a "tweet" we can define it as the meticulous process of identifying therapies and cures in a particularly subjective way.
Precision Medicine in Oncology
The first medical sector in which precision medicine has taken hold is that of cancer treatment in which for some time now there has been talk of personalized treatments. For years, doctors and researchers have been aiming for fdrugs aimed at forms of disease of which a precise genetic component is known.
It was in fact 1998 when it was approved in the United States the monoclonal antibody trastuzumab to treat breast cancers which express the HER2 receptor on cells, approximately one in four. Others followed, developed to be products directed against specific molecular targets, we remember those to treat chronic myeloid leukemia or some forms of lung, colorectal or melanoma cancers.
There precision medicine it has also made its way into other branches of medicine and we have been able to obtain drugs against cystic fibrosis and to treat some forms of epilepsy, for example. Before being prescribed it is obviously necessary to have the DNA test performed for know if the patient has the right characteristics to benefit from it. On the contrary, it could be "waterproof" or even be damaged by taking it.
Precision medicine and diagnosis
To get more and more precise and accurate diagnoses, we proceed combining genetic data with clinical data and this is not always easy, unprecedented problems arise on the frontier of innovation. If from a technical and statistical point of view, the solution could be to always work in team with mathematicians, bioinformaticians, from the point of view of data, of the individual and necessary for statistics, there are privacy, legal and cultural issues, which is still much discussed and bad information does not help the scientific community to understand where we are going with precision medicine and why.
Precision medicine and epigenetics
Epigenetics, from the Greek επί, epì = "above" and γεννετικός, gennetikòs = "relating to family inheritance", is the discipline that deals with the changes that affect the phenotype without altering the genotype, so it studies all the heritable modifications that vary gene expression while not altering the DNA sequence.
It therefore crosses in many cases the studies of precision medicine, especially when it is essential to go to investigate congenital genetic diseases such as Angelman and Prader-Willi syndrome.
Precision Medicine: New
Many strides have been made to date and precision medicine is constantly evolving, as projects such as Manufacturing 4.0 but often some treatments available are "inefficient" and millions of people remain on medicines that have little or no efficacy for them.
By insisting on this path, excellent results will certainly be obtained and it will be increasingly important have detailed genetic data available to guide treatment. Precious are therefore the databases with information on genetic variants and the evolution of diseases, unfortunately very often in the possession of private groups.
With the emergence of precision medicine it will be necessary, it already is, review the entire discovery and registration process. For example, to have practically "tailor-made" drugs, it is necessary to change the validation process by not only carrying out large-scale experiments on many patients but also evidence of efficacy on increasingly smaller groups but with the same mutation.
The decisive phases of the realization of a drug they are the first and today they are the least crowded of Italian researchers who intervene on new drugs usually when the innovative path is concluded, in the testing phase.
Fortunately many things are already changing, the Italian clinical studies on the total of those conducted in Europe it passed from 2015 and 2016 from 17 to 20%, and the number of centers suitable for conducting trials is also increasing in the first phase, but there remains the risk of not being really competitive with other countries due to the bureaucratic slowdown that does not allow us to guarantee fast times.
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