The Magic Pill
What tasks does personalized medicine solve?
Maria Poptsova, RUSBASE
The events of last year forced the whole world to pay attention to health problems, especially the inefficient use of medicines.
Personalized medicine or individual selection of drugs based on genetic information can solve this problem.
Maria Poptsova, head of the International Bioinformatics Laboratory of the HSE Faculty of Computer Science and a member of the consortium "Genetics of Cardiovascular Diseases", told about what it is and what the prospects of this industry are in the future.
What is personalized medicine?
Even in ancient times, it was noticed that the same medicine can help one person, but it will not have any effect on another with the same disease, if it does not harm.
The discoveries of the 21st century in the field of life sciences, such as the complete decoding of the human genome in 2003 and the subsequent project "1000 genomes" allowed us to explain why this happens: the genetic code of all people coincides by more than 99%, and the remaining 1% is due to all our individual differences and body reactions.
The use of genetic information for the individual selection of drugs and minimizing their side effects has been called personalized medicine.
Reducing the cost of genome decoding also plays a role in its development: if the first decoding cost almost $3 billion, now 23andme sells this service for $99.
Personalized medicine helps to detect predisposition to diseases, stop their development and start treatment at an early stage.
This approach significantly reduces health care costs (treatment in the late stages of the disease is much more expensive), so personalized medicine is economically profitable.
According to Precedent Research, its market was estimated at $59 trillion in 2019, and this figure will grow to $141 trillion by 2027. At the same time, the growth of the CAGR will be 10.6% by 2025.
The interest in the topic of personalized medicine is also confirmed by the size of investments.
For example, in early December, Tempus raised an additional $200 million. Previously, the company worked in the field of personalization of medicine and was engaged in decoding the genomes of tumors – it managed to collect a significant database of genetic data.
Now Tempus plans to deal with other areas: psychiatry, cardiology and endocrinology.
Recently, Moderna has been widely known as the creator of one of the Covid-19 vaccines made using matrix RNA.
However, it is not only known for this development: their joint personalized cancer vaccine with Merck, called mRNA-4157, has already passed the first phase of testing. Experts note that if the tests are successfully passed, mRNA-4157 may become the company's next "blockbuster" after the coronavirus vaccine.
But, unfortunately, in science, and especially in healthcare, positive results do not always appear.
For example, Vertex Pharmaceuticals, which is developing a personalized treatment for cystic fibrosis, had to recall a previously promising pulmonological drug due to its negative side effects identified during trials. After that, the company's shares fell by 20%.
It is impossible not to note the interest in personalized medicine in Russia.
Recently it became known that Yandex became an investor in Genotek and invested $4 million in it.
Genotek is engaged in the compilation of a genetic passport of a person, information from which can be used to assess the risks of diseases and the appearance of side effects.
In which areas is personalized medicine used
One of the first and most developed areas of application of personalized medicine was oncology.
For example, it is known that certain mutations in the BRCA1 or BRCA2 genes increase the risk of breast cancer in women by up to 85% instead of the usual 13%.
If you know about the presence of such a mutation, you can monitor more often and have time to detect the disease at an early stage, that is, focus on preventive measures.
However, today personalized medicine is used to treat not only rare genetic diseases or cancer, but also diseases such as epilepsy or allergies.
Moreover, in 2020, personalized medicine began to take into account not only genetic information. Now scientists understand that other factors are also important: family, economic, social, nutrition and lifestyle.
The events of 2020 disrupted the normal development of many scientific fields, but at the same time provoked a sharp increase in interest in life sciences.
It is still difficult to say unequivocally what this will lead to, but perhaps we are waiting for a real leap in the development of medicine.
Scientists, pharmaceutical companies and consortia around the world have joined forces and engaged in Covid-19 research.
The Coalition for Personalized Medicine has also announced the fight against it as one of its goals.
The course of the disease caused by the coronavirus still raises a lot of questions: why does someone get sick easier, and someone harder? Is it possible to predict how the disease will behave in a particular patient? There is still no truly effective approach to the treatment of this disease.
But we already know that one of the main factors affecting susceptibility to Covid-19 treatment is genetic.
There is already an understanding that genetic research can be useful in the treatment of Covid-19.
For example, in the USA there is an All-of-us program, under the terms of which almost 300 thousand people were allowed to use their genetic information for scientific and medical research, and half of the participants belong to racial and ethnic minorities.
Such work is very important in the fight against this disease: according to the Wisconsin Department of Health, almost a quarter of all deaths from Covid-19 in the state are African Americans, despite the fact that they make up less than 7% of the entire population, and 12% of deaths are Hispanics.
Dr. Elizabeth Burnside, co-director of All-of-us at the University of Wisconsin, believes that the program is very important for understanding how Covid-19 affects underrepresented groups of people in genome-wide studies and allows for a personalized approach to their treatment.
Meanwhile, scientists from Oxford published a paper in which, using statistical methods, they found 68 genes that could be associated with the severe course of Covid-19, and noted that 17 of them could be successfully used to create drugs.
But, unfortunately, such an analysis cannot unambiguously determine the path along which the disease will develop.
There are more and more such studies, but it will take many months, if not years, to better study the disease and its causes.
The coronavirus epidemic has reminded the whole world of the importance of vaccines and the problems associated with their creation.
Usually, vaccines help to form immunity to a specific disease in a population, but do not forget that the immune responses of different organisms to the same effects may differ.
There is no doubt that in the future, when making samples to study the effects of vaccines, people will be grouped not only by gender, age and other classical characteristics, but also by their gene codes.
In the near future, not only the fight against the virus, but also related tasks will be an acute problem.
For example, a study of individual reactions to taking blood–thinning drugs - anticoagulants, which are often prescribed for coronavirus and cardiovascular diseases, shows that they still rank first in the world in mortality.
One of these drugs is "Warfarin".
There is a genetic mutation that affects the enzymes interacting with it and can lead to improper operation of the drug: excessive bleeding or, conversely, the formation of blood clots and even death.
If earlier the doctor prescribed this drug to the patient by trial and error, then in the future genetic testing will help make this process faster and safer.
If we talk not only about Covid-19, then another promising direction for the development of personalized medicine is psychiatry.
It is known that more than 30% of people with schizophrenia do not respond to standard therapy with dopaminergic antipsychotics, and then their disease is called therapeutically resistant schizophrenia.
In such cases, the drug "Clozapine" is prescribed, but its use is associated with certain difficulties:dose selection and side effects.
Genome decoding can help to select suitable psychopharmacological agents for a particular patient based on how his metabolism works.
For example, the CYP2D6 gene is actively involved in the metabolism of 20-25% of modern antidepressants and antipsychotics, and its study may be important for the appointment of a suitable drug.
Of particular interest is not only the field of application of drugs, but also the minimization of their undesirable side effects.
For example, due to the use of many anticancer drugs, neurotoxicity caused by chemotherapy can develop – a dangerous condition that negatively affects the lives of patients.
Personalized medicine could identify patients most susceptible to the development of this condition and take this information into account when selecting treatment.
What technologies are used in personalized medicine
As you know, data is the oil of the 21st century. Today we can get a huge amount of information about our health using, for example, smart watches.
This data, if properly processed, as well as genetic data, can be used in the field of personalized medicine.
But how to work with them correctly?
Information about the health status of one particular person can hardly be of interest – it makes sense to compare these data with population data and make predictions based on them. Artificial intelligence comes to the rescue in solving this problem.
The introduction of AI in the field of healthcare and personalized medicine is taking place all over the world.
The most frequent areas of activity of medical startups are the processing of data for the diagnosis of diseases, the selection of drugs, reducing the cost of treatment, as well as the creation of applications that "guide" the patient throughout the entire period of therapy, helping with advice and monitoring the condition.
Another interesting area of the industry is the so–called wearable devices, wearable devices that read physiological indicators in real time.
For example, today it is quite possible to do an ECG using a smartphone. However, there are also many unresolved problems, for example, it is difficult to measure a person's glycemic index in real time.
In addition, another promising area has emerged – 3D printing: already today there are companies that are able to print a prosthesis according to the individual standards of a particular person.
What awaits personalized medicine in the future
The International Consortium for Personalized Medicine (ICPerMed) highlights the points on which personalized medicine will change the healthcare system by 2030.
Firstly, it is expected that by having more detailed knowledge about their health, people will become more involved in their treatment and responsible in terms of controlling their data.
Secondly, the consortium members assume that the doctors themselves will become more informed about the individual differences of patients and treatment and diagnosis will be carried out in a more integrated manner.
Thirdly, it is assumed that the healthcare system will devote more time to the prevention of diseases than to their treatment.
Personalized medicine is still at an early stage of its development, but the prospects for its growth look extremely promising.
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