Preventive genetics is not a luxury
Genetics will make Russians healthier
Leading Russian specialists in the field of medical genetics, patient organizations and healthcare representatives discussed the economic benefits of introducing high-tech methods of medical genetic screening and preimplantation genetic diagnostics (PGD) aimed at the prevention of genetic diseases into the Russian healthcare system.
Every year, about 30,000 children are born in Russia with various life-threatening hereditary pathologies. Each person is a latent carrier of an average of 7-10 mutations in the genes that determine the development of hereditary diseases. At the same time, people most often do not suspect that they can transmit hereditary diseases to their children, since they themselves are healthy.
In the developed countries of the world, where genetic testing has already become a practice, couples planning children are offered DNA testing for hereditary diseases. In case of detection of high risks of the birth of a sick child, future parents can use preimplantation genetic diagnostics, which allows during the IVF procedure (in vitro fertilization) to evaluate the genetic characteristics of embryos and choose healthy embryos that have not inherited parental mutations for transfer to the woman's uterus.
Oleg Verlinsky, head of the Institute of Reproductive Genetics (RGI) of Chicago, said that "in the USA, already on the first visit to a gynecologist, young girls are necessarily informed about the need to undergo medical genetic screening to identify mutations that can lead to the birth of sick children. If the doctor "forgets" to recommend screening and the patient subsequently has a child with a hereditary disease, then this doctor will be legally and financially responsible. People who are aware of their risks and want to give birth to healthy children come to our institute. There are situations when, for example, genetically determined rectal cancer or breast cancer is transmitted from generation to generation in the family. With the help of PGD, you can remove the gene that causes cancer or another disease and permanently interrupt dangerous heredity. As a result, a healthy baby will be born. We are also approached by parents who already have a child with a hereditary disease, for the treatment of which a hematopoietic stem cell transplant is needed. Parents want to give birth to a healthy baby who can become a fully compatible cord blood stem cell donor for a sick brother or sister. With the help of PGD, this is possible. In our practice, we are already talking about dozens of lives saved. Every year we receive letters of gratitude and photos from such families, they come to visit us. The services provided at RGI, as well as a range of other high-tech services in the field of medical genetics, screening for the carriage of hereditary diseases, PGD, are now provided in the unique Genetico center operating in Russia by world standards."
There are about 7000 hereditary diseases in the world, most of them are incurable. And only for a small number of hereditary conditions, an effective therapy scheme has been developed. The symptoms of hereditary diseases may have similarities with other pathologies and manifest an erased clinical picture. To establish a correct diagnosis, even in developed healthcare systems, it takes from 5 to 7 years and significant costs for the patients themselves or their loved ones. The later the diagnosis is made, the worse the prognosis, the harder the family lives and the more expensive the treatment costs. At the birth of a child with a genetic pathology amenable to therapy, for example, with cystic fibrosis, phenylketonuria, he is shown a lifetime of expensive treatment.
Director of the Institute of Health Economics Larisa Popovich, in the report "The economic benefits of introducing genetic screening and preimplantation genetic diagnostics into the healthcare system of the Russian Federation" noted that in the conditions of underfunding of the Russian healthcare system, the quality of life of patients with hereditary diseases in our country is much more difficult than in the USA and Europe. In Russia, less than 10% of the population have the right to preferential drug provision. Families use all possible options to provide treatment, the financing of which falls heavily on their shoulders, since it is not 100% covered by the state. In addition, there is also part of the non-medical costs associated with rehabilitation and social adaptation of patients with hereditary diseases. "One of the most effective ways to change the existing healthcare system," according to Larisa Popovich, "is the development of preconceptional medicine, the active introduction of new high–tech services into practical medicine aimed at the prevention of hereditary diseases." Given the limited resources of healthcare financing now and in the forecast up to 2020, there is a need to prioritize costs based on evidence-based medical methods. Thus, genetic screening in risk groups, as well as non-invasive diagnosis of fetal chromosomal abnormalities and PGD can serve as effective tools for prioritizing costs in conditions of a limited budget.
According to the data announced at the Round Table, in the USA, for the national program for the prevention of cystic fibrosis, an analysis of the effectiveness of the cost of IVF in combination with PGD was carried out, which showed that the use of these technologies for about 4,000 pairs of carriers of cystic fibrosis per year will lead to the birth of 3715 healthy children. At the same time, the cost of the program in terms of one child will be $57,467. The annual cost of cystic fibrosis treatment is $63,127, the life expectancy of patients is 37 years. Thus, the use of IVF with PGD would save $2.3 million per patient and $2.2 billion for all new patients with cystic fibrosis per year. The total cost savings for the treatment of all pairs of carriers of cystic fibrosis over 37 years would amount to $33.3 billion. Consequently, the national program for the use of IVF in combination with PGD can become an economically highly effective method of preventive medicine. The participants of the Round Table noted that the figures given for the cost of cystic fibrosis therapy are quite comparable with the Russian ones.
During the discussion that followed the reports, experts discussed the specifics of Russian state programs: prenatal screening of pregnant women from risk groups and neonatal screening of newborns for the 5 most common hereditary diseases. One of the proposals made during the discussion was the introduction of screening for more diseases and the use of non-invasive techniques. There was a general opinion that in many regions of the Russian Federation there are not enough medical and genetic services and geneticists. The participants of the round table emphasized the need for education, broad and accessible information to the public about the importance of genetic screening for people of all ages, and especially those who are planning a family.
According to the chief specialist-geneticist of the Ministry of Health of the Russian Federation Peter Novikov, "There are always two questions in Russia: Who is to blame? What should I do?" Today, at the round table, I listened to all the reports and messages with great pleasure. The declared topic fully corresponds to the priority direction announced today in the Ministry of Health that the prevention of hereditary and congenital diseases should become the general line of medical and genetic counseling. This is the beacon we have to go to. Therefore, today we have something to focus on and what to do. Judging by the indicators of medical and genetic services, 70% of all genetic consultations in Russia today are retrospective consultations, when a sick child has already been born in the family and parents come to understand the prognosis. And it should be the opposite – 70% of prospective counseling when there is no sick child in the family yet. It is during these consultations that it is necessary to resolve the topical issues raised during the discussion today and use the best practices that colleagues have talked about."
In his closing speech, Artur Isaev, Director General of the Institute of Human Stem Cells, said that: "knowledge of their genetic characteristics already helps people not only manage their own health, but also allows them to manage risks and achieve conception of healthy children without severe hereditary diseases. This is the practice that already exists in Russia today. Currently, the HSCC is developing a network of Genetico medical and genetic centers in the Russian Federation, specialized in the prevention and prevention of diseases. New advanced technologies in genetics that are used in these centers are an opportunity to give birth to healthy children, prevent the development of serious and fatal diseases, increase the effectiveness of IVF procedures, which in the future will lead to a significant reduction in medical and social costs for the treatment of severe hereditary diseases. And most importantly, preventive medical genetics will increase the duration and quality of life, make Russians healthier, and medicine more effective."
Elena Romanova, ISC Press Secretary
Portal "Eternal youth" http://vechnayamolodost.ru24.03.2014