Precision Medicine and Its Promising Future

08.04.2021 in Medicine Essay


Precision medicine (PM) is a quickly developing healthcare area based on the integrated, individual approach to each patient and analysis of the emergence and the course of a disease. It is integral medicine that includes the development of personalized remedies on the basis of genomics and tests for the predisposition to illnesses, prophylaxis, and association of diagnostics with treatment monitoring. Precision medicine aims at the integration of genetic and other information for the prevention and treatment of complex disorders in the human organism. Such diseases as diabetes mellitus, cancer, hypertension, heart attacks, etc. are treated by means of precision medicine methods. The research paper discusses the essence of precision medicine, its application of nanotechnology, the use of PM for diagnostics and treatment of diabetes mellitus, and perspectives for effective development of this branch of medicine.

Keywords: precision medicine (PM), pharmacogenetics, nanobiotechnologies, diabetes mellitus (DB), genomic technologies

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Precision Medicine and Its Promising Future

Precision medicine (PM) is a rapidly developing direction of modern medicine based on new methods of directed patient-associated medical and diagnostic care that integrates the impact of genetic, inter-environmental, and regional factors. The attempts to understand a disease or predisposition to it at the cellular level, to estimate molecular ways of contracting a disease, to find the corresponding biomarkers or substances of a particular disease form the basis of PM (Fradkin, Hanlon, & Rodgers, 2016, p. 1080). In other words, PM targets diagnostics and treatment of the patient in accordance with the initial results of the research of his/her genetic profile (Trending 2017: Precision Medicine, 2016, p. 47). Thus, being an actively developing direction of medical and biological research, precision medicine seems to be a perspective area that integrates modern biotechnological approaches into medical practice, optimizing the understanding of the pathophysiological basis for the development of diseases and features of their molecular diagnostics and therapy.

The Essence of PM

PM presupposes effective treatment of a patient within the frameworks of the public healthcare system. The basic principle of the new approach to diagnostics and treatment of patients is the continuous genetic and biochemical testing, which allows tapping many diseases at the early stages of their development before the symptoms develop and the disease progresses (Klonoff, 2008, p. 335; Trending 2017: Precision Medicine, 2016, p. 48). The most important drive for the development of PM includes findings in the field of regenerative medicine and tuse of stem cells for treatment and prevention of diseases, which involves numerous moral, ethical and legal issues.

The majority of the known diseases have monogenetic or multifactor nature. The first type presupposes the development of diseases due to a fault in the genes responsible for their development, while the second one presupposes the development of diseases based on environmental factors, nutrition schemes, physical overload and lifestyle of patients. The possibilities of PM methods in the field of multifactorial diseases are rather wide (Trending 2017: Precision Medicine, 2016, p. 48). Thus, researchers assume that precisely chosen treatment methods can provide higher efficiency of therapy for such conditions as pancreatitis, oncology, diabetes mellitus, hypertension and heart attacks and prevent emergence of side effects (Klonoff, 2008, p. 337; Fradkin et al., 2016, p. 1080).

In case of obscure or infrequent diagnostics, pharmacogenetics allows people who take pills for a long time to define appropriate dosage for treatment of the diseases and prevention of complications. Pharmacogenetics methods allow estimating the metabolism of each patient and choosing medicine and its dosage in a precise manner (Trending 2017: Precision Medicine, 2016, p. 49). Capobianco (2017) states that precision medicine is focused on each patient:

In Precision Medicine, the importance of each patient will be valuable as much as the centrality of any type of subpopulation study. Medical researchers and physicians would agree over the importance of supporting their acquired scientific and clinical knowledge with information from a variety of sources, both theoretically and practically inspired. (p. 26)

Apart from that, PM has a number of other advantages compared to traditional medicine. Firstly, PM saves time and money of both patients and doctors. Thus, prevention of a disease is always cheaper and faster than its treatment. Secondly, a thorough check-up of a patient, including medical and genetic consultation as well as the necessary laboratory and diagnostic tests, takes only 2-3 days (Klonoff, 2008, p. 339). The definition of biomarkers and genetic testing, including blood and saliva test, can take maximum 10 minutes. Therefore, PM methods include a combination of high professionalism of doctors, the principles of evidence-based medicine, usual instrument research and modern laboratory diagnostics.

However, despite the advantages of PM, there are also arguments against the perspective future of this direction of medical science. For instance, the progress in the application of this type of medicine is very slow. The attempts aimed at the determination of new genetic data, which were made in the last decade, did not produce tangible results (Franks & Poveda, 2017, p. 784). Therefore, the development of PM will require continuous support of global and national healthcare organizations and programs.

Thus, the main characteristic feature of PM is its predictive character, or the possibility to determine a high risk of contracting a disease by means of molecular, genetic, immunological, hormonal and metabolic testing. Moreover, knowing risks factors for a disease and its markers, it is possible to prevent its development. Besides, PM provides maximum efficiency and patient safety, which becomes possible owing to the development of pharmacogenetics and pharmacogenomics that enable determination of genetic sensitivity of each patient to a particular medication (Franks & Poveda, 2017, p. 786). Such methods allow optimizing the treatment of patients, significantly reducing the time spent on the selection of a therapy and increasing its efficiency.

Nanobiotechnologies in PM

Nanotechnologies play an essential role in PM. At present, PM is a fast-developing area of medical knowledge, which is expected to increase by 37% until 2020. According to Fakruddin, Hossain, and Afroz (2012), starting from the diagnostics of simple proteinaceous molecules, DNA, RNA and their functional subunits in the nanoscale format, nanobiotechnological approaches provide high precision of the proteomic research methods.

Nanobiotechnologies make an essential contribution to the development of PM due to innovative techniques used for medical and diagnostic purposes. Analysis of the features of the human genome is the cornerstone of the development of PM (Fakruddin et al., 2012, p. 40). Therefore, genetic analysis allows establishing the necessity to use definite pills in the clinical settings. Such analysis is necessary because even insignificant individual differences in DNA at two patients can lead to different effects of the same medicinal bond (Nikalje, 2015, p. 81).

Modern innovative technologies of DNA sequencing allow collecting genomic information immediately from these molecules due to retardation and control of the molecules through the pores in the nanodimensional format. The fast and effective DNA sequencing became real due to the innovative technology of DNA molecules decoding at their translocation through nanopores put on the silicon chip (Nikalje, 2015, p. 82). This technology is available for large-scale genomic analysis by means of serially released systems generating hundreds of thousands of the superfine data on the sequences in few hours (Fradkin et al., 2016, p. 1081). Moreover, the new generation of technology allows implementing PM effectively in the clinical conditions. In general, actively developed new biotechnologies of DNA sequencing on the basis of the use of nanobiotechnological solutions have broad prospects for application in health care. They are able to optimize PM, promoting acquisition of data about ones predisposition to the development of cardiovascular diseases, cancer, diabetes mellitus, etc.

Application of nanotechnologies in PM is not limited to the use autologous stem cells but also includes individual selection of a qualitative and quantitative composition of the cellular apparatus, proceeding from the data gathered through genomic, proteomic, biochemical and immunologic research (Nikalje, 2015, p. 83; Lippi, Bassi, & Bovo, 2016, p. 2). The recently developed technology of receiving induced pluripotent stem cells (IPSCs) by means of transduction of progenic and differentiated cells of an adult organism is of the greatest interest for precision cellular therapy (Fradkin et al., 2016, p. 1082; Fakruddin et al., 2012, p. 43). This approach is not applied in clinical practice as IPSCs are received from the use of retrovirus vectors without excluding insertional mutagenesis.

However, despite numerous advantages of application of nanotechnologies in PM, there are also some limitations. First of all, research in the sphere of application of nanotechnologies in PM requires substantial financial investment and collaboration of the highly qualified scientists throughout the world. Moreover, being a new direction of medicine, nanotechnologies have not accumulated the knowledge base yet. Hence, lack of extensive scientific data on the efficiency of nanobiotechnologies in precision medicine hinders its fast development (Fakruddin et al., 2012, p. 45; Nikalje, 2015, p. 85). At the same time, nanobiotechnologies help to overcome restrictions of the methods of modern molecular diagnostics and promote fast establishment of an accurate and definitive diagnosis and integration of diagnostic research programs within the PM framework.

PM in Diabetes Mellitus

Diabetes Mellitus (DM) outgrows other noninfectious diseases by prevalence rates. Thus, in the last 20 years, the number of people suffering from DM in the world increased almost threefold (Franks & Poveda, 2017, p. 784). If this trend persists, the number of people diagnosed with DB will reach 600 million by 2035, which is almost every 10th inhabitant of the planet (Kleinberger & Pollin, 2015, p. 45; Klonoff, 2008, p. 335). The diagnostics of type 1 and type 2 DM is traditionally based on the clinical picture of the disease. However, neither age nor body weight can be objective criteria for the onset of the disease. A recent research by Kleinberger and Pollin (2015) demonstrates the genetic nature of the disease and its possible treatment. Thus, the scholars state that over 40 and nearly 80 genetic loci influencing susceptibility to type 1 and type 2 diabetes, respectively, have been identified. In addition, there is emerging evidence that some genetic variants help to predict response to treatment (Kleinberger & Pollin, 2015, p. 45). Therefore, the genetic nature of the disease allows effectively applying PM for its treatment.

A number of studies proved that the population risk of DM development averages 0.2 0.4%. Type 1 DM does not belong to hereditary diseases connected with monogenic inheritance of genes. However, the risk of development of DM-1 considerably increases in children born in nuclear families in which one or several close relatives suffer from DM-1 (Kleinberger & Pollin, 2015, p. 46; Franks & Poveda, 2017, p. 785). Therefore, all markers of DM-1 developmental risk, both genetic and immunological, show the prognostic importance of the genetic analysis of about 80-90% (Mutie, Giordanno, & Franks, 2017, p. 171). Therefore, genetic testing, which is a part of the PM method, allows monitoring people from the risk groups and applying programs of primary and secondary prevention of DM-1 and, as a result, reducing the risk of disease progression.

Unlike DM-1, there is an obvious connection of genetic inheritance and DM-2, which allows applying PM methods for its treatment. The risk of development of DM-2 is up to 40% if one of the parents has DM-2 and up to 70% if both parents suffer from DM-2. According to full-genomic researches, more than 20 genes define the risk of DM-2. These genes code the main pathogenic links of DM-2 development, including IR, dysfunction of ?-cells, inclination to obesity, the defect of secretion of hormones of the incretin row, etc. (Mutie et al., 2017, p. 172). The research conducted by Kleinberger and Pollin (2015) shows that the contribution of each separate gene to the risk of development of DM-2 is not big; however, various combinations of them increase the prognostic importance by 1.5 – 2 times. Molecular mechanisms of DM-2 development are diverse and linked to multilevel breakages in the way of signal transmission from the insulin receptor to intracellular structures (Kleinberger & Pollin, 2015, p. 46). Frequent inefficiency of treatment of DM-2 patients by traditional medical therapy is explained by the heterogeneity of the disease (Fradkin et al., 2016, p. 1083; Franks & Poveda, 2017, p. 786). A correctly chosen method of PM presupposes taking into consideration the results of genetic testing of a patient, his or her way of life, the regime of nutrition and physical activity. PM methods in the DM treatment include the eating preferences and habits of a patient as well as the real financial and living conditions. Therefore, the detailed studying of intracellular mechanisms of DM-2 development is necessary for application of PM, allowing treating patients with DM-2 effectively.

Thus, the existing data on precision medicine indicate that standard algorithm of DM treatment represents a certain average option of treatment and are necessary for the formation of the general concept of the disease treatment (Franks & Poveda, 2017, p. 790). However, it is possible to provide the most effective medical care to each specific patient, only knowing his or her genetics, individual characteristics and features of an organism.

The Future of PM

At present, PM is on the threshold of considerable expansion of opportunities. Genomic and post-genomic technologies should be applied to clinical practice in the nearest future due to the action of the targeted programs. Undoubtedly, there are many problems on the way of introduction of precision medicine for effective treatment of DM. They include inaccessibility of PM application in the clinical practice, the high cost of full-genomic analysis, an extremely small number of experts in the field of genetic research, ethical issues relating to protection of personal genetic information of patients, etc. Moreover, the main obstacles to the development of PM include insufficient readiness of experts due to a big gap between the new valuable diagnostic and therapeutic opportunities and the ability of practical doctors to assess them and apply in practice (Klonoff, 2008, p.341; Mutie et al., 2017, p. 172).

PM requires the fulfillment of additional hi-tech tests, which leads to increased cost of medical services. However, eventually, the use of PM leads to the essential economy of expenses on medical care. A correctly established diagnosis and treatment scheme sharply reduce the corresponding expenses. Moreover, the use of personalized methods will significantly reduce mortality rates caused by diseases as well as by incorrectly prescribed medicines (Lippi et al., 2016, p. 3). The majority of authors emphasize the wide prospects of this direction, noting the definite aspects of its use in relation to oncologic, cardiovascular, neurologic, and other widespread diseases (Fradkin et al., 2016, p. 1084).

The listed factors indicate the need for the development of this perspective area in the form of scientific research on socially important diseases. In the modern conditions of intensive development of biomedical technologies, it is important for experts to understand the basic features of precision medicine in comparison with the approaches of the recent past (Lippi et al., 2016, p. 3). Further precision of modern medicine is expected to develop with the consideration of the following main recommendations.

Firstly, it is necessary to divide traditional nosological forms into molecular subgroups. In-depth research on the genome, transcriptome, and proteome of breast cancer led to the division of this disease into 4 molecular subtypes, each of which requires a separate therapeutic approach (Fradkin et al., 2016, p. 1084). Secondly, it is preferable to consider the PM predictive approach based on genomics, which allows preventing the development of a disease instead of diagnosing the already developed pathology. The genomic approach can be combined with the monitoring of the onset of a disease by means of the analysis of a proteome and metabolome (Mutie et al., 2017, p. 175). Thirdly, it is necessary to control the efficiency of diseases treatment and reduction of severity of side effects of treatment by means of therapeutical medical monitoring. Fourthly, it is preferable to organize the banks of biomaterial connected with socially important diseases. Biobanks are necessary for the development and validation of the precision approaches to the diagnosis of a disease. Deposition of samples from a patient during all his or her life will enable personalization of the monitoring of his or her individual indicators (Lippi et al., 2016, p. 5). Thus, the above-mentioned recommendations will allow spreading research and clinical applications of precision medicine for the treatment of various diseases.

To my mind, PM has enormous perspectives to be effectively applied in all spheres of medical science. Traditional approaches to the treatment of patients with similar symptoms seem to recede into the past. Unique genetic profiling of pathogenic processes, the selection of the most suitable precision therapy with the account of the patient’s health status and personal features as well as the collaboration of the leading specialists in the sphere of PM will result in the development of PM as a science and its wide application in clinical practice. Therefore, in my opinion, the development of PM and its application in the treatment of diseases should be supported by international medical science.

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Precision medicine is a new but very perspective direction of medicine, combining modern technological approaches with the pathophysiological basis of diagnostics and treatment of diseases. The growth of medical centers specialized on PM will allow increasing the interest of practical doctors in the molecular links of the pathogenesis of diseases and the methods of nanomolecular diagnostics and therapy. Significant progress should be expected in the creation of multimodal nanoconnections increasing the contrast of the molecular image, the new technical means and algorithms of optimization of molecular processes in the nanoformat by means of modern bio designs. As a result, the prerequisites for the basic infrastructure of PM will increase the efficiency of its methods in general.

Thus, the existing data on precision medicine suggests that the standard algorithm of disease treatment represents a certain average option of treatment that is necessary for the formation of the general concept of disease treatment. However, it is possible to provide the most effective medical care to each specific patient only knowing his or her genetics, individual characteristics and features of an organism (Franks & Poveda, 2017, p. 790). Undoubtedly, there are many problems on the way of application of precision medicine for effective treatment of diseases. They include inaccessibility of PM application in clinical practice and the high cost of full-genomic analysis, an extremely small number of professionals in the field of genetic research, etc. That notwithstanding, PM is a rather perspective direction of medical science.

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