An Analysis of Medical Care Services for Children With Rare Diseases in the Russian Federation

Rare diseases continue to present numerous challenges for the medical field worldwide. Understanding innovative mechanisms of service provision for patients with rare conditions through shared communication across different healthcare systems should be encouraged. This study presents the organizatio...

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Autores principales:	Svetlana Ya. Volgina, Alexey A. Sokolov
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	rare diseases child health protection medical genetic service preferential provision of medicines Russia Therapeutics. Pharmacology RM1-950
Acceso en línea:	https://doaj.org/article/2c27b6fb61c84d88ac6531d9389a8bfe
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spelling	oai:doaj.org-article:2c27b6fb61c84d88ac6531d9389a8bfe2021-11-30T19:01:38ZAn Analysis of Medical Care Services for Children With Rare Diseases in the Russian Federation1663-981210.3389/fphar.2021.754073https://doaj.org/article/2c27b6fb61c84d88ac6531d9389a8bfe2021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fphar.2021.754073/fullhttps://doaj.org/toc/1663-9812Rare diseases continue to present numerous challenges for the medical field worldwide. Understanding innovative mechanisms of service provision for patients with rare conditions through shared communication across different healthcare systems should be encouraged. This study presents the organization of medical care for people with rare diseases in Russia, while also exploring the epidemiology of both life-threatening and chronic, progressive, rare diseases. Further, the regulation of medical care provision is examined, including the preferential provision of medicines in different Russian regions and potential role of compulsory medical insurance. The principles guiding patient referrals to appropriate specialist centres for rare diseases are outlined, including considering the increased role that public-patient organizations have in developing healthcare systems. In reviewing the specialized resources available for patients with rare diseases, medical genetics services offering diagnostics and counselling are discussed. Additionally, population-level preventive care necessitates significant investment, principally in diagnostic technology and screening programs. As seen elsewhere, these initiatives involve forming reference centres and tertiary-level pediatric departments staffed by multidisciplinary specialists in rare diseases. Numerous challenges are highlighted relating to Russian healthcare systems, including the financing of expensive treatments and ensuring equitable access to medical care for those patients with rare diseases outside of State-subsidized programs. Recommendations are made on creating international registries for knowledge sharing, quality appraisal, newborn screening, diagnostic challenges, available treatments and rehabilitation services. Given the high cost of rare diseases, cost-effective interventions are advisable, particularly developing preventive programs and targeting the most common and severe mutations in patients planning pregnancies.Svetlana Ya. VolginaAlexey A. SokolovFrontiers Media S.A.articlerare diseaseschild health protectionmedical genetic servicepreferential provision of medicinesRussiaTherapeutics. PharmacologyRM1-950ENFrontiers in Pharmacology, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	rare diseases child health protection medical genetic service preferential provision of medicines Russia Therapeutics. Pharmacology RM1-950
spellingShingle	rare diseases child health protection medical genetic service preferential provision of medicines Russia Therapeutics. Pharmacology RM1-950 Svetlana Ya. Volgina Alexey A. Sokolov An Analysis of Medical Care Services for Children With Rare Diseases in the Russian Federation
description	Rare diseases continue to present numerous challenges for the medical field worldwide. Understanding innovative mechanisms of service provision for patients with rare conditions through shared communication across different healthcare systems should be encouraged. This study presents the organization of medical care for people with rare diseases in Russia, while also exploring the epidemiology of both life-threatening and chronic, progressive, rare diseases. Further, the regulation of medical care provision is examined, including the preferential provision of medicines in different Russian regions and potential role of compulsory medical insurance. The principles guiding patient referrals to appropriate specialist centres for rare diseases are outlined, including considering the increased role that public-patient organizations have in developing healthcare systems. In reviewing the specialized resources available for patients with rare diseases, medical genetics services offering diagnostics and counselling are discussed. Additionally, population-level preventive care necessitates significant investment, principally in diagnostic technology and screening programs. As seen elsewhere, these initiatives involve forming reference centres and tertiary-level pediatric departments staffed by multidisciplinary specialists in rare diseases. Numerous challenges are highlighted relating to Russian healthcare systems, including the financing of expensive treatments and ensuring equitable access to medical care for those patients with rare diseases outside of State-subsidized programs. Recommendations are made on creating international registries for knowledge sharing, quality appraisal, newborn screening, diagnostic challenges, available treatments and rehabilitation services. Given the high cost of rare diseases, cost-effective interventions are advisable, particularly developing preventive programs and targeting the most common and severe mutations in patients planning pregnancies.
format	article
author	Svetlana Ya. Volgina Alexey A. Sokolov
author_facet	Svetlana Ya. Volgina Alexey A. Sokolov
author_sort	Svetlana Ya. Volgina
title	An Analysis of Medical Care Services for Children With Rare Diseases in the Russian Federation
title_short	An Analysis of Medical Care Services for Children With Rare Diseases in the Russian Federation
title_full	An Analysis of Medical Care Services for Children With Rare Diseases in the Russian Federation
title_fullStr	An Analysis of Medical Care Services for Children With Rare Diseases in the Russian Federation
title_full_unstemmed	An Analysis of Medical Care Services for Children With Rare Diseases in the Russian Federation
title_sort	analysis of medical care services for children with rare diseases in the russian federation
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/2c27b6fb61c84d88ac6531d9389a8bfe
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An Analysis of Medical Care Services for Children With Rare Diseases in the Russian Federation

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