How genome research is carried out in Russia and in the world
According to the Global Market Insights report, the global market
In the global market for genetic researchToday, among the leaders are Illumina (captured 75% of the market) and Thermo Fisher Scientific, which are engaged in the development and production of equipment for sequencing - determining the amino acid or nucleotide sequence of proteins, DNA and RNA. Thanks to these players, the technology cost has decreased 15 times - to $ 1,000. But in the future, an even more noticeable price drop (to $ 100) is possible: this should be facilitated by the new equipment from Illumina - NovaSeq. Gilead Sciences, Novartis AG and CRISPR Therapeutics AG remain the leaders in the field of treatment of genetic diseases (the company is also actively involved in developments in the field of gene editing). Leading positions in test design are Myriad Genetics, Genomic Health and Invitae.
The volume of the Russian market for geneticless testing than European, American or Asian. At the end of 2019, it was estimated at $ 4-9 million (300-700 million rubles), while the European one - at $ 14.7 million. Russia is still at an early stage of development, but the growth rate of the domestic market is increasing. According to SmartConsult forecasts, in the next five years, it will face an intensive growth of 12-15% per year, as a result of which the volume of the Russian market will exceed $ 14 million by 2025. Its growth in 2019 was facilitated by the introduction of genetic profiles by presidential decree (no. ). Thanks to this, not only medical companies, but also the population began to show interest in testing. And the service itself has become more accessible, because its cost has decreased, although the price in Russia is still 2-3 times higher than in the United States.
In Russia, the leader in the field of genetictesting - Genotek with its own development of code interpretation. In 2020, the company raised $ 4 million. Prior to that, in 2016-2017, another $ 3 million was invested in it. In addition to tests, Genotek is engaged in research for scientific laboratories, including the study of oncological tumors. Also among the Russian leaders are "Genoanalytica", Oftalmic with a narrow offer of diagnostics of hereditary ophthalmic diseases, UGENE with a bioinformatics environment for molecular biologists.
What medical questions does genome research cover now?
The development of preventive medicine has become possibleprecisely through the study and application of the results of today's genetic discoveries. For example, this is facilitated by the introduction of next-generation sequencing technologies, thanks to which the potential of diagnostic testing has increased and progress in the field of gene therapy has accelerated: in 2018, there were more than 700 programs in the development stage in the world. The spread of the technique so far is hindered only by the high cost, but it is gradually decreasing, as has already been demonstrated by Illumina. In 2019, it supplied more than 13 thousand sequencing machines to the whole world, including Russian scientific institutes.
In 2017, the FDAThe US FDA has approved the first two innovative CAR-T gene therapies to fight blood cancers by reengineering white blood cells (part of the immune system) so they can see diseased cells they previously missed. Permission was received by Gilead Sciences and Novartis. In the coming years, they are expected to provide solutions to combat other forms of cancer.
But maximum attention is still focusedaround the CRISPR-Cas9 gene editing technology: its methods entered the research phase in mid-2019. CRISPR Therapeutics and Vertex Pharmaceuticals are trying to change DNA outside the human body, and Intellia at the beginning of April 2021 began doing this inside the patient (with his bone marrow). There are also isolated experimental DNA changes in embryos, which have been carried out since 2015. But scientists are still very far from extending genome editing to mainstream medicine. For now we are talking about the potential correction of hereditary diseases in already born children, but to start doing this, it is necessary to resolve the issues of state regulation of such techniques and all ethical contradictions. The CRISPR-Cas9 market is projected to grow at an annual growth rate of over 15% through 2026.
In addition, there has been an increase in the use ofgenetic testing in cancer and genetic diseases in North America. Doctors are integrating genetic testing into clinical care for patients: it is no longer just an interesting innovation that ordinary people resort to solely out of curiosity. The technology stimulates the development of preventive medicine: in several years, more than 1,500 tests have appeared, and this figure will continue to grow. However, there is still a limited amount of scientific information in this area, so scientists have to do a lot of work for genetic tests to work effectively.
What discoveries in genome research to expect
Experts point to development prospectsCRISPR-Cas9 in the field of therapy of bone marrow pathologies: so far this is the most probable area of practical application of gene editing technology. At least, if the results of the Intellia experiments are successful, in the next decade, similar attempts are possible to influence the DNA of the liver and kidneys in vivo (editing molecules are injected directly into the patient). Excision BioTherapeutics is also working on gene approaches for the treatment of herpes and hepatitis B, using the company's own methods - CasX and CasY. Clinical trials are scheduled for 2022.
Along with this, the scientific world expects newpromising results from studies by CRISPR Therapeutics and Vertex Pharmaceuticals and Editas Medicine, which are exploring the potential for gene-altering technology to treat sickle cell anemia and beta thalassemia. At the end of 2019, the first person in the United States received CRISPR treatment for sickle cell disease. In the summer of 2020, it became known that after nine months, therapy is still effective. And at the end of 2020, experts voiced the hope that the technique could be introduced into mainstream medicine: already 10 patients who received such treatment are showing stable results.
How it will affect the healthcare and medical market
Many now believe that geneticresearch will become a panacea and will allow the discovery of many drugs based on the study of the microbiota, genome sequencing. But there is one fundamental problem that humans have not yet solved: we cannot, based on the genetic code alone, determine the three-dimensional structure of a protein. In 2020, Google launched AlphaFold, an AI-based algorithm that was able to model the three-dimensional structure of a protein from its amino acid sequence and opened up new avenues for developing vital drugs to fight viruses. The use of AlphaFold will reduce the drug development cycle by tens, if not hundreds, of times. The model will also be relevant for the creation of immune biological products. But today it is not completely clear how accurate this algorithm is.
There are difficulties with the fact that the genome is nottakes into account a huge number of epigenetic factors: how proteins are located on a particular DNA. To read general information about the body, different techniques and devices are needed.
As a result, a problem appears in the areaepigenetics and difficulties in studying each section of a gene: you need to understand what happens to it and how epigenetic factors that do not depend on genetics work. The ongoing studies and their results will help with the treatment of monogenic diseases where there are genetic abnormalities to assess the corresponding risks. But we will never be able to use such technologies to the full extent in relation to polygenic diseases: that is, those for the occurrence and development of which not a single gene is responsible, but a huge combination of factors.
Genetics should be treated as one of themethods that solve a number of problems, but do not promise to become a magic wand for everything. She gives information, but is not able to answer all questions. As genetics develops, it will increasingly help to strengthen personalized medicine, but only in conjunction with other research, preventive medicine, analyzes, assessment of human biochemical parameters and other parameters.
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