I. A. Komarov, A. R. Malakhova, T. P. Vasilyeva, E. Yu. Shukan, O. Yu. Aleksandrova, R. A. Zinchenko, A. V. Polyakov, S. S. Nikitin, E. Yu. Sapego, S. I. Kutsev
{"title":"俄罗斯联邦新生儿脊髓性肌萎缩症筛查的社会经济效率","authors":"I. A. Komarov, A. R. Malakhova, T. P. Vasilyeva, E. Yu. Shukan, O. Yu. Aleksandrova, R. A. Zinchenko, A. V. Polyakov, S. S. Nikitin, E. Yu. Sapego, S. I. Kutsev","doi":"10.17650/2222-8721-2023-13-3-25-32","DOIUrl":null,"url":null,"abstract":"Background . Spinal muscular atrophy (SMA) is a severe rare disease that has been widely discussed in recent years. Achievements in etiopathogenetic therapy and the social significance of the disease (child population, high mortality), the cost of treatment attracted the attention of the public and the goverment, which, among other things, led to the formation of a separate area with the creation of a fund to finance the treatment of patients with orphan diseases. Aim . To conduct an analysis of the socio-economic efficiency of mass neonatal screening for SMA in the Russian Federation. Materials and methods . A survey of patients (their parents) and doctors was conducted. The current clinical guidelines and the standard of medical care for children with SMA were studied. The cost of medicines is taken from the State Register of Maximum Selling Prices. If the drug is not included in the List of Vital Essential and Necessary Drugs, cost information from the procurement data is used. Results . The socioeconomic burden of SMA on identified patients was about 3,994,289,548 rubles per year prior to screening. The very introduction of mass neonatal screening will amount to about 679,224,000 rubles in year. At the same time, a disease detected in a timely manner due to neonatal screening and timely prescribed effective treatment can lead to a reduction in the cost of specialized and palliative care by 54,073,271 rubles, direct non-medical costs by 88,137,423 rubles, and indirect costs by 154,197,900 rubles per year, which together is more than 7 % of the calculated burden of SMA. Conclusion . The introduction of mass screening will lead to the fact that the number of annually detected patients will increase from current values to the actual value of the prevalence when registering patients with milder forms of SMA. The need for drug supply with drugs and medical care in general will increase. At the same time, children diagnosed with SMA will not die in the early years of life, their survival rate, life expectancy will increase, the quality of life will improve, infant mortality will decrease, which is the main task of neonatal screening and one of the goals of the National Healthcare Project.","PeriodicalId":37569,"journal":{"name":"Nervno-Myshechnye Bolezni","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Socioeconomic efficiency of neonatal screening for spinal muscular atrophy in the Russian Federation\",\"authors\":\"I. A. Komarov, A. R. Malakhova, T. P. Vasilyeva, E. Yu. Shukan, O. Yu. Aleksandrova, R. A. Zinchenko, A. V. Polyakov, S. S. Nikitin, E. Yu. Sapego, S. I. Kutsev\",\"doi\":\"10.17650/2222-8721-2023-13-3-25-32\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Background . Spinal muscular atrophy (SMA) is a severe rare disease that has been widely discussed in recent years. Achievements in etiopathogenetic therapy and the social significance of the disease (child population, high mortality), the cost of treatment attracted the attention of the public and the goverment, which, among other things, led to the formation of a separate area with the creation of a fund to finance the treatment of patients with orphan diseases. Aim . To conduct an analysis of the socio-economic efficiency of mass neonatal screening for SMA in the Russian Federation. Materials and methods . A survey of patients (their parents) and doctors was conducted. The current clinical guidelines and the standard of medical care for children with SMA were studied. The cost of medicines is taken from the State Register of Maximum Selling Prices. If the drug is not included in the List of Vital Essential and Necessary Drugs, cost information from the procurement data is used. Results . The socioeconomic burden of SMA on identified patients was about 3,994,289,548 rubles per year prior to screening. The very introduction of mass neonatal screening will amount to about 679,224,000 rubles in year. At the same time, a disease detected in a timely manner due to neonatal screening and timely prescribed effective treatment can lead to a reduction in the cost of specialized and palliative care by 54,073,271 rubles, direct non-medical costs by 88,137,423 rubles, and indirect costs by 154,197,900 rubles per year, which together is more than 7 % of the calculated burden of SMA. Conclusion . The introduction of mass screening will lead to the fact that the number of annually detected patients will increase from current values to the actual value of the prevalence when registering patients with milder forms of SMA. The need for drug supply with drugs and medical care in general will increase. At the same time, children diagnosed with SMA will not die in the early years of life, their survival rate, life expectancy will increase, the quality of life will improve, infant mortality will decrease, which is the main task of neonatal screening and one of the goals of the National Healthcare Project.\",\"PeriodicalId\":37569,\"journal\":{\"name\":\"Nervno-Myshechnye Bolezni\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-10-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Nervno-Myshechnye Bolezni\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.17650/2222-8721-2023-13-3-25-32\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nervno-Myshechnye Bolezni","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17650/2222-8721-2023-13-3-25-32","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Socioeconomic efficiency of neonatal screening for spinal muscular atrophy in the Russian Federation
Background . Spinal muscular atrophy (SMA) is a severe rare disease that has been widely discussed in recent years. Achievements in etiopathogenetic therapy and the social significance of the disease (child population, high mortality), the cost of treatment attracted the attention of the public and the goverment, which, among other things, led to the formation of a separate area with the creation of a fund to finance the treatment of patients with orphan diseases. Aim . To conduct an analysis of the socio-economic efficiency of mass neonatal screening for SMA in the Russian Federation. Materials and methods . A survey of patients (their parents) and doctors was conducted. The current clinical guidelines and the standard of medical care for children with SMA were studied. The cost of medicines is taken from the State Register of Maximum Selling Prices. If the drug is not included in the List of Vital Essential and Necessary Drugs, cost information from the procurement data is used. Results . The socioeconomic burden of SMA on identified patients was about 3,994,289,548 rubles per year prior to screening. The very introduction of mass neonatal screening will amount to about 679,224,000 rubles in year. At the same time, a disease detected in a timely manner due to neonatal screening and timely prescribed effective treatment can lead to a reduction in the cost of specialized and palliative care by 54,073,271 rubles, direct non-medical costs by 88,137,423 rubles, and indirect costs by 154,197,900 rubles per year, which together is more than 7 % of the calculated burden of SMA. Conclusion . The introduction of mass screening will lead to the fact that the number of annually detected patients will increase from current values to the actual value of the prevalence when registering patients with milder forms of SMA. The need for drug supply with drugs and medical care in general will increase. At the same time, children diagnosed with SMA will not die in the early years of life, their survival rate, life expectancy will increase, the quality of life will improve, infant mortality will decrease, which is the main task of neonatal screening and one of the goals of the National Healthcare Project.
期刊介绍:
The principal objective of the "Neuromuscular Diseases" journal is publication of state-of-art information about scientific clinical studies, diagnostics, and treatment of neurological diseases. "Neuromuscular Diseases" is a peer-reviewed journal, and members of its editorial board are major professionals in Russia and the CIS countries that have deserved authority not only in our country but abroad as well. Besides, leading scientists of Europe and the USA regularly cooperate with the journal. The journal regularly publishes reviews of modern literature references, proprietary clinical observations, lectures, original articles, results of research protocols in various areas of neuromuscular pathology - clinical presentation, diagnostics, medication, surgical and non-drug therapies, modern trends in drug rehabilitation, and recent drug developments. Due to international cooperation, the journal contains the newest therapeutic and diagnostic approaches to monitoring of patients with neuromuscular pathology.