Tomorrow's medicine: 4 "P"

The right "recipe" is in our genes, and in accordance with the genetic data, personalized medicine works – one of the professions of the future according to the version of "Attic" and FIOP RUSNANO.

Determining predisposition to a number of serious diseases based on genome data is about to become a routine diagnostic procedure - and has long been "settled" in the gossip column (because this procedure is already available to the stars today). All these are harbingers of future medical practices that will accurately take into account the individual characteristics of a particular person – this is personalized medicine.

The essence of modern personalized medicine is an integral approach to the data obtained during genome analysis. This includes testing for predisposition to all kinds of diseases, recommendations for prevention, etc. And already today, most pharmaceutical companies have made the development of personalized medicine one of the priorities.

According to these organizations, approximately 50% of current research is on personalized medicine. And by 2016, the share of personalized medicines will account for a third of all medicines in the total volume of global production.

The medicine of the future is symbolically based on four "whales" – the principles of 4P: predictive, preventive, personalization and participative. 

The first "P" is the predictability of the disease. That is, a doctor, using genetic research methods, can talk about the likelihood of a particular disease. Already today, science knows a lot of genes and their combinations that are responsible for the development of certain diseases. Moreover, it is possible to diagnose the disease not only in an adult or a child, but even in an unformed embryo.

One of the latest achievements was the method of detecting fetal DNA in the mother's blood already at the 10th week of pregnancy. This diagnosis is non-invasive (that is, the procedure is not associated with penetration into the body through the skin or mucous membranes) and allows you to diagnose fetal chromosomal diseases with a high degree of probability. Currently, another diagnosis is widely used – preimplantation (it is performed before the embryo is fixed in the uterus). It allows you to determine the presence of markers of hereditary diseases before the embryo is implanted into the uterus by IVF – that is, a woman will avoid the risk of carrying a fetus with severe pathologies. 

The next "P" is probably the most important of the four. Prevention, or prevention of the development of the disease, which is much cheaper than treatment. And we are not talking here about the usual prevention like walking in the fresh air and moderation in food: today, genetically determined methods of preventing diseases are in use. As a rule, they are mainly aimed at using optimal therapeutic and preventive means for the patient, taking into account his genetic, physiological and biochemical characteristics.

But prevention can also be surgical. For example, in the United States and the European Union, preventive mastectomy is widespread when dangerous mutations in the BRCA1 and BRCA2 genes are detected, whose carriers have an exceptionally high risk of developing breast cancer. 

If a woman has these mutations, she is shown regular examinations or preventive removal of the mammary glands and ovaries. It was the latter option that was chosen, for example, by the famous actress Angelina Jolie.

Thus, one of the main tasks of modern pharmacists is to make medicines specifically for the prevention of diseases, and not for the treatment of a neglected disease.

The third "P" is personalized treatment. Its essence is that doctors try to detect personal biomarkers in patients responsible for the development of the disease, and give the patient medications that are aimed specifically at his personal "breakdown". For example, when breast cancer is detected, the marker of which is a certain variant of the HER2 receptor on the cell surface, a specific drug is used that blocks this receptor. 

Well, and the fourth "P". Participativeness, that is, involvement, is an important principle of medicine of the future, according to which it is necessary to make sure that the person himself takes an active part in the prevention of diseases so that he is not afraid of them. This is the only way to achieve success, supporters of this approach believe. Without a conscious desire of a person to be healthy, all attempts by doctors to prevent diseases will be in vain. 

Diagnostics has helped for many years to select treatment for a person more or less individually. But only recently have scientists learned to look deeper – at the molecular level. And often it is the new diagnostic tools that allow them to optimize tasks. 

It is especially important to introduce personalized medicine methods for the treatment of oncological diseases as soon as possible. Cancer is rapidly progressing in global mortality statistics: experts predict that by 2030 it will claim 30 million lives annually. It is not surprising that it is in oncology that personalized medicine is developing most actively and receives serious support from the state. For example, US President Barack Obama plans to allocate $ 215 million for a new healthcare program that will personalize the medical care scheme based on the unique genetic characteristics of each patient. Russian President Vladimir Putin instructed the government in 2016 to allocate up to 10 billion rubles from the federal budget to support the National Technical Initiative program, which includes the modernization of medicine, Vedomosti writes.

The response to the drug, the optimal class of the drug, its dose and mode of use are determined, at least in part, by genetic determinants. The use of genetic markers can help the clinician choose the right drug therapy strategy. Based on these principles, pharmacogenetics seeks to identify genes and their variants that determine the adequacy of pharmacotherapy and reduce the risk of side effects. It has been shown that a number of widely used drugs are effective only in 25-60% of patients. In the USA alone, two million cases of side effects have been noted, including about one hundred thousand deaths per year.

The fact is that the individual pharmacological response depends on many factors, such as gender, age, concomitant diseases, the nature of nutrition, bad habits of the patient. However, 50% of adverse pharmacological responses depend on its genetic characteristics. Therefore, it is so important to take into account the genetic characteristics of a person when choosing a treatment, but it is impossible to do this without preliminary genetic testing. This means that genetic tests should become the norm. 

Interpreting the results of genetic testing, doctors can choose an algorithm for choosing a dosage regimen or discontinuing the use of a drug. At the same time, each drug has its own algorithm. For example, recently a team of Yakut geneticists managed to develop a program for automated interpretation of the results of pharmacogenetic testing and on its basis to determine a person's sensitivity to certain drugs. When such practices become commonplace, doctors will no longer have to act by trial and error and, for example, find out that the prescribed medicine does not work on this particular patient.

Novosibirsk" Elizaveta Malikova. 

But such a model of medical services will be able to work only if a number of difficult projects are implemented. First, it is necessary to create databases of patient information BigData - and for this you will need a special IT service. Secondly, a "router" of patients will be needed when contacting the clinic.

Moreover, this router will not become electronic immediately. Currently, referrals to specialized specialists are distributed by a district therapist, but ideally it should be another specially trained doctor with enhanced competencies in "diagnosis and analysis" and weaker ones in "therapeutic treatment",

At the same time, if the case of the patient's treatment is standard, then the doctor will need a "monitor" of the patient's health, which will simply check whether he follows the recommendations or not. By the way, according to statistics, 89% of patients worldwide do not follow the recommendations for treatment and rehabilitation. Junior medical staff will have to monitor this.

But if the disease turns out to be not standard, then a person will need laboratory diagnostics and analytics. Now these are handled by individual laboratory technicians who conduct tests, and specialized doctors who analyze them. Today, these specialties merge into one, since it is impossible to make an accurate diagnosis without knowledge of complex diagnostic systems and their weaknesses. This is especially true for instrumental studies like ultrasound, MRI, PET, CT, etc. (other "doctors of the future" – medical physicists will have to work with them)

"Whether the attending doctors or operating surgeons will remain under the current names is also a big question, since most of the diseases that we described in one word half a century ago are now disintegrating into a whole bunch of various pathologies with a similar clinical picture," Malikova explains. – This is especially true for oncology, when there may be more than ten malignant tumors of different origins behind the "lung cancer" now, which are treated in absolutely different ways." 

So, it is likely that in the distant future there will be specialists in congenital diseases, acquired diseases at an early stage, treatment of acquired diseases at an advanced stage, rehabilitation or social psychological support services for the patient, but the usual ophthalmologist, neurosurgeon and others will sink into oblivion. 

"Pharmacopoeia and personalized pharmaceuticals, personalized devices and implants, which will be created by people with knowledge in medicine, IT and design, will receive a new birth," adds Malikova.

Thus, personalized medicine, barely born, proves its exceptional promise. People working in this industry are already worth their weight in gold, and the need for them will only grow. "Attic" tried to imagine what kind of specialists the new medicine might need. 

He can also be called a "computer biologist". He is engaged in obtaining biologically meaningful results by examining the contents of various data banks – proteins, DNA, RNA and many, many others. He must possess the full arsenal of existing computer tools, for example, know the algorithms embedded in programs in order to be able to interpret the results, master programming in order to implement new ideas. 

Gene diagnostics. Someone will have to analyze and test people, and then analyze them correctly so that effective drugs can be developed.

Pharmacogenetics. This specialist should be able to select the right drugs for a specific genotype. He will study the nature of the body's reactions to drugs depending on hereditary factors.

Medical geneticist. The task of this specialist is to identify, study, prevent and treat hereditary diseases, develop methods to prevent the impact of negative environmental factors on human heredity.

The geneticist is a consultant on prevention. This person will tell people about their individual predisposition to various diseases and offer possible options for preventing the disease.

 

Faculty of Biological and Medical Physics. 

Bachelor's degree, master's degree.

Form of study: full-time.

Website: mipt.ru/dbmp/ 

Website: fbb.msu.ru

Bachelor's degree, master's degree.

Form of study: full-time.

Website: rsmu.ru/678.html 

Bachelor's degree, Master's degree

Form of study: full-time

Website: mma.ru/education/faculties/

Portal "Eternal youth" http://vechnayamolodost.ru

01.12.2015