Caracterización de las prácticas en la atención de enfermedades raras : revisión sistemática de la literatura

dc.contributorPinzón Espitia, Olga Lucía
dc.contributorGonzalez-Rodriguez, Javier-Leonardo
dc.creatorRodriguez Martinez, Karen Juliette
dc.creatorPareja Nausa, Diana Marcela
dc.creatorVigoya Aya, Mabely Marelby
dc.date.accessioned2019-09-19T16:57:40Z
dc.date.available2019-09-19T16:57:40Z
dc.date.created2019-09-19T16:57:40Z
dc.identifierhttps://repository.urosario.edu.co/handle/10336/20297
dc.identifierhttps://doi.org/10.48713/10336_20297
dc.description.abstractIntroduction: Rare diseases, although they affect a low population percentage, are a priority for the country's healthcare system, on account of lack of an entirely comprehensive customer care scheme, high costs, social rejection, absence of skilled professionals, trained to handle this kind of diseases and social inequity. Objectives: Identify the best practices and healthcare actions based on a systematic literature review. Methods: A systematic review was conducted under the PRISMA methodology in PUBMED, COCHRANE DATABASE- WILEY, LILACS, EMBASE, OVID databases and grey literature published between 2014 and 2019 including records in English and Spanish. Subsequently, the quality of systematic reviews was carried out using the AMSTAR matrix, and for the qualification of cohort studies Scottish Intercollegiate Guidelines Network (SIGN) tool was applied. Results: A total of 1900 articles were identified, of which 16 systematic reviews, 7 cohort studies and 172 panoramic reviews were selected by inclusion criteria for a total of 195 articles, however, only 16 were considered as high-quality content. The results emerged the need for a healthcare system specialized in rare diseases, that provides the population with optimum coverage. Among the exposed limitations, the more significant ones are disease diagnosis, treatment and monitoring, lack of classification and recording systems, the constraint of medication access, policies development, limited investigation and scientific proof as direct cause. However, the importance of development of new laws which allow alliances between governments, pharmaceutical companies and healthcare organizations that prioritize the comprehensive care of these patients must be noted. Conclusions: a solid database and information systems based on technological improvements that encourage drug development and investigation have to be established. Likewise, planning, follow up and enforcement of policies and strategies that ensure prompt access to healthcare services.
dc.languagespa
dc.publisherUniversidad del Rosario
dc.publisherMaestría en Administración en Salud
dc.publisherFacultad de administración
dc.rightshttp://creativecommons.org/licenses/by-nc-nd/2.5/co/
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rightsAbierto (Texto Completo)
dc.rightsEL AUTOR, manifiesta que la obra objeto de la presente autorización es original y la realizó sin violar o usurpar derechos de autor de terceros, por lo tanto la obra es de exclusiva autoría y tiene la titularidad sobre la misma. PARGRAFO: En caso de presentarse cualquier reclamación o acción por parte de un tercero en cuanto a los derechos de autor sobre la obra en cuestión, EL AUTOR, asumirá toda la responsabilidad, y saldrá en defensa de los derechos aquí autorizados; para todos los efectos la universidad actúa como un tercero de buena fe. EL AUTOR, autoriza a LA UNIVERSIDAD DEL ROSARIO, para que en los términos establecidos en la Ley 23 de 1982, Ley 44 de 1993, Decisión andina 351 de 1993, Decreto 460 de 1995 y demás normas generales sobre la materia, utilice y use la obra objeto de la presente autorización. -------------------------------------- POLITICA DE TRATAMIENTO DE DATOS PERSONALES. Declaro que autorizo previa y de forma informada el tratamiento de mis datos personales por parte de LA UNIVERSIDAD DEL ROSARIO para fines académicos y en aplicación de convenios con terceros o servicios conexos con actividades propias de la academia, con estricto cumplimiento de los principios de ley. Para el correcto ejercicio de mi derecho de habeas data cuento con la cuenta de correo habeasdata@urosario.edu.co, donde previa identificación podré solicitar la consulta, corrección y supresión de mis datos.
dc.rightsAtribución-NoComercial 2.5 Colombia
dc.rightsAtribución-NoComercial-SinDerivadas 2.5 Colombia
dc.sourceAdachi, T., Kawamura, K., Furusawa, Y., Nishizaki, Y., Imanishi, N., Umehara, S., … Suematsu, M. (2017). Japan’s initiative on rare and undiagnosed diseases (IRUD): Towards an end to the diagnostic odyssey. European Journal of Human Genetics, 25(9), 1025-1028. https://doi.org/10.1038/ejhg.2017.106
dc.sourceAymé, S., Bellet, B., & Rath, A. (2015). Rare diseases in ICD11: Making rare diseases visible in health information systems through appropriate coding. Orphanet Journal of Rare Diseases, 10(1), 1-14. https://doi.org/10.1186/s13023-015-0251-8
dc.sourceBaas, M., Huisman, S., Van, J. H., Koekkoek, G., Laan, H. W., & Hennekam, R. C. (2015). Building treasures for rare disorders. European Journal of Medical Genetics, 58(1), 11-13. https://doi.org/10.1016/j.ejmg.2014.10.006
dc.sourceBaldovino, S., Moliner, A. M., Taruscio, D., Daina, E., & Roccatello, D. (2016). Rare Diseases in Europe: From a Wide to a Local Perspective. Israel Medical Association Journal, 18(6), 359-363.
dc.sourceBenkeser, D., Carone, M., & Gilbert, P. B. (2018). Improved Estimation of the Cumulative Incidence of Rare Outcomes. Statistics in medicine, 37(2), 280-293. https://doi.org/10.1002/sim.7337
dc.sourceBorski, K. (2015). Economic aspects of rare diseases. Developmental period medicine, 19(4), 528-532. Recuperado de http://medwiekurozwoj.pl/articles/2015-4-23.pdf
dc.sourceCasamento, K., Laverty, A., Wilsher, M., Twiss, J., Gabbay, E., Glaspole, I., … Pulm Interstitial Vasc Org Taskfor. (2016). Assessing the feasibility of a web-based registry for multiple orphan lung diseases: The Australasian Registry Network for Orphan Lung Disease (ARNOLD) experience. Orphanet Journal of Rare Diseases, 11. https://doi.org/10.1186/s13023-016-0389-z
dc.sourceCavero-Carbonell, C., Gras-Colomer, E., Guaita-Calatrava, R., López-Briones, C., Amorós, R., Abaitua, I., … Zurriaga, O. (2016). Consensus on the criteria needed for creating a rare-disease patient registry. A Delphi study. Journal of Public Health (Oxford, England), 38(2), e178-186. https://doi.org/10.1093/pubmed/fdv099
dc.sourceDegtiar, I. (2017). A review of international coverage and pricing strategies for personalized medicine and orphan drugs. Health Policy, 121(12), 1240-1248. https://doi.org/10.1016/j.healthpol.2017.09.005
dc.sourceEkins, S. (2017). Industrializing rare disease therapy discovery and development. Nature Biotechnology, 35(2), 117-118.
dc.sourceFerrelli, R. M., Gentile, A. E., Santis, M. D., & Taruscio, D. (2017b). Sustainable public health systems for rare diseases. Annali Dell’Istituto Superiore Di Sanità, 53 (2),170-175 https://doi.org/10.4415/ANN_17_02_16
dc.sourceGammie, T., Lu, C. Y., & Babar, Z. U.-D. (2015). Access to Orphan Drugs: A Comprehensive Review of Legislations, Regulations and Policies in 35 Countries. PloS One, 10(10), e0140002. https://doi.org/10.1371/journal.pone.0140002
dc.sourceGerardi, C., Banzi, R., Bertele’, V., & Garattini, S. (2017). Clinical research on rare diseases of children: Neuroblastoma. Cancer Chemotherapy and Pharmacology, 79(2), 267-273. https://doi.org/10.1007/s00280-016-3195-3
dc.sourceGiannuzzi, V., Conte, R., Landi, A., Ottomano, S. A., Bonifazi, D., Baiardi, P., … Ceci, A. (2017). Orphan medicinal products in Europe and United States to cover needs of patients with rare diseases: An increased common effort is to be foreseen. Orphanet Journal of Rare Diseases, 12. https://doi.org/10.1186/s13023-017-0617-1
dc.sourceGiugliani, R., Vairo, F. P., Riegel, M., de Souza, C. F. M., Schwartz, I. V. D., & Pena, S. D. J. (2016). Rare disease landscape in Brazil: Report of a successful experience in inborn errors of metabolism. Orphanet Journal of Rare Diseases, 11. https://doi.org/10.1186/s13023-016-0458-3
dc.sourceHelm, B. M. (2015). Exploring the Genetic Counselor’s Role in Facilitating Meaning-Making: Rare Disease Diagnoses. Journal of genetic counseling., 24(2), 205-212. https://doi.org/10.1007/s10897-014-9812-6
dc.sourceHyry, H. I., Cox, T. M., & Roos, J. C. P. (2017). Brexit and rare diseases: Big risk, bigger opportunity? Current Medical Research and Opinion, 33(4), 783-784. https://doi.org/10.1080/03007995.2017.1284053
dc.sourceJezela-Stanek, A., Karczmarewicz, D., Chrzanowska, K. H., & Krajewska-Walasek, M. (2015). Polish activity within Orphanet Europe: State of art of database and services. Developmental Period Medicine, 19(4), 536-541. Recuperado de http://medwiekurozwoj.pl/articles/2015-4-23.pdf
dc.sourceJohnston, B. C., Miller, P. A., Agarwal, A., Mulla, S., Khokhar, R., Oliveira, K. D., … Guyatt, G. H. (2016). Limited responsiveness related to the minimal important difference of patient-reported outcomes in rare diseases. Journal of Clinical Epidemiology, 79, 10-21. https://doi.org/10.1016/j.jclinepi.2016.06.010
dc.sourceJulkowska, D., Austin, C. P., Cutillo, C. M., Gancberg, D., Hager, C., Halftermeyer, J., … Weely, S. van. (2017). The importance of international collaboration for rare diseases research: A European perspective. Gene Therapy, 24(9), 562-571. https://doi.org/10.1038/gt.2017.29
dc.sourceKanters, T. A., Hakkaart, L., Mölken, M. P. R., & Redekop, W. K. (2015). Access to orphan drugs in western Europe: Can more systematic policymaking really help to avoid different decisions about the same drug? Expert Review of Pharmacoeconomics & Outcomes Research, 15(4), 557-559. https://doi.org/10.1586/14737167.2015.1045882
dc.sourceKawai, A., Goto, T., Shibata, T., Tani, K., Mizutani, S., Nishikawa, A., … Ueda, R. (2018). Current state of therapeutic development for rare cancers in Japan, and proposals for improvement. Cancer Science, 109(5), 1731-1737. https://doi.org/10.1111/cas.13568
dc.sourceKorchagina, D., Millier, A., Vataire, A.-L., Aballea, S., Falissard, B., & Toumi, M. (2017). Determinants of orphan drugs prices in France: A regression analysis. Orphanet Journal of Rare Diseases, 12(1). https://doi.org/10.1186/s13023-016-0561-5
dc.sourceLochmüller, H., Farnell, J. T. i, Cam, Y. L., Jonker, A. H., Lau, L. P., Baynam, G., … Boycott, K. M. (2017). The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact. European Journal of Human Genetics, 25(12), 1293. https://doi.org/10.1038/s41431-017-0008-z
dc.sourceLopes, M. T., Koch, V. H., Sarrubbi-Junior, V., Gallo, P. R., & Carneiro-Sampaio, M. (2018). Difficulties in the diagnosis and treatment of rare diseases according to the perceptions of patients, relatives and health care professionals. Clinics, 73. https://doi.org/10.6061/clinics/2018/e68
dc.sourceMateus, H. E., Pérez, A. M., Mesa, M. L., Escobar, G., Gálvez, J. M., Montaño, J. I., … Laissue, P. (2017). A first description of the Colombian national registry for rare diseases. BMC Research Notes, 10(1), 514. https://doi.org/10.1186/s13104-017-2840-1
dc.sourceMavilio, F. (2017). Developing gene and cell therapies for rare diseases: An opportunity for synergy between academia and industry. Gene Therapy, 24(9), 590-592. https://doi.org/10.1038/gt.2017.36
dc.sourceMueller, T., Jerrentrup, A., Bauer, M. J., Fritsch, H. W., & Schaefer, J. R. (2016). Characteristics of patients contacting a center for undiagnosed and rare diseases. Orphanet Journal of Rare Diseases, 11. https://doi.org/10.1186/s13023-016-0467-
dc.sourcePark, T., Griggs, S. K., & Suh, D.-C. (2015). Cost Effectiveness of Monoclonal Antibody Therapy for Rare Diseases: A Systematic Review. BioDrugs: Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 29(4), 259-274. https://doi.org/10.1007/s40259-015-0135-4
dc.sourcePejcic, A. V., Iskrov, G., Jakovljevic, M. M., & Stefanov, R. (2018). Access to orphan drugs – comparison across Balkan countries. Health Policy, 122(6), 583-589.
dc.sourcePohjola, P., Hedley, V., Bushby, K., & Kääriäinen, H. (2016a). Challenges raised by cross-border testing of rare diseases in the European union. European Journal of Human Genetics, 24(11), 1547-1552. https://doi.org/10.1038/ejhg.2016.70
dc.sourceQuirland Lazo, C., Castañeda Cardona, C., Chirveches Calvache, M. A., Aroca, A., Otálora Esteban, M., & Rosselli, D. (2018). Modelos de atención en salud en enfermedades raras: Revisión sistemática de la literatura. Gerencia y Políticas de Salud, 17(34). https://doi.org/10.11144/Javeriana.rgps17-34.mase
dc.sourceRath, A., Salamon, V., Peixoto, S., Hivert, V., Laville, M., Segrestin, B., … Gluud, C. (2017). A systematic literature review of evidence-based clinical practice for rare diseases: What are the perceived and real barriers for improving the evidence and how can they be overcome? Trials, 18. https://doi.org/10.1186/s13063-017-2287-7
dc.sourceRobinson, S. W., Brantley, K., Liow, C., & Teagarden, J. R. (2014). An Early Examination of Access to Select Orphan Drugs Treating Rare Diseases in Health Insurance Exchange Plans. Journal of Managed Care Pharmacy, 20(10), 997-1004. https://doi.org/10.18553/jmcp.2014.20.10.997
dc.sourceSarntivijai, S., Vasant, D., Jupp, S., Saunders, G., Bento, A. P., Gonzalez, D., … Malone, J. (2016). Linking rare and common disease: Mapping clinical disease-phenotypes to ontologies in therapeutic target validation. Journal of Biomedical Semantics, 7, 1-11. https://doi.org/10.1186/s13326-016-0051-7
dc.sourceShimizu, R., Ogata, K., Tamaura, A., Kimura, E., Ohata, M., Takeshita, E., … Komaki, H. (2016). Clinical trial network for the promotion of clinical research for rare diseases in Japan: Muscular dystrophy clinical trial network. BMC Health Services Research, 16. https://doi.org/10.1186/s12913-016-1477-4
dc.sourceShort, H., Stafinski, T., & Menon, D. (2015). A National Approach to Reimbursement Decision-Making on Drugs for Rare Diseases in Canada? Insights from Across the Ponds. Healthcare Policy = Politiques De Sante, 10(4), 24-46.
dc.sourceSilva, E. N. da, & Sousa, T. R. V. (2015). Economic evaluation in the context of rare diseases: Is it possible? Cadernos de Saúde Pública, (3), 496. https://doi.org/10.1590/0102-311x00213813
dc.sourceSong, P., He, J., Li, F., & Jin, C. (2017). Innovative measures to combat rare diseases in China: The national rare diseases registry system, larger-scale clinical cohort studies, and studies in combination with precision medicine research. Intractable & Rare Diseases Research, 6(1), 1. https://doi.org/10.5582/irdr.2017.01003
dc.sourceSun, W., Zheng, W., & Simeonov, A. (2017). Drug discovery and development for rare genetic disorders. American journal of medical genetics. Part A, 173(9), 2307-2322. https://doi.org/10.1002/ajmg.a.38326
dc.sourceThayer, S., Bell, C., & McDonald, C. M. (2017). The Direct Cost of Managing a Rare Disease: Assessing Medical and Pharmacy Costs Associated with Duchenne Muscular Dystrophy in the United States. Journal of Managed Care & Specialty Pharmacy, 23(6), 633-641. https://doi.org/10.18553/jmcp.2017.23.6.633
dc.sourceThorat, T., Neumann, P. J., & Chambers, J. D. (2018). Hemophilia Burden of Disease: A Systematic Review of the Cost-Utility Literature for Hemophilia. Journal of Managed Care & Specialty Pharmacy, 24(7), 632-642. https://doi.org/10.18553/jmcp.2018.24.7.632
dc.sourceThyen, U., Ittermann, T., Flessa, S., Muehlan, H., Birnbaum, W., Rapp, M., … Koehler, B. (2018). Quality of health care in adolescents and adults with disorders/differences of sex development (DSD) in six European countries (dsd-LIFE). BMC Health Services Research, 18. https://doi.org/10.1186/s12913-018-3342-0
dc.sourceVon der Lippe, C., Diesen, P. S., & Feragen, K. B. (2017). Living with a rare disorder: A systematic review of the qualitative literature. Molecular Genetics & Genomic Medicine, 5(6), 758-773. https://doi.org/10.1002/mgg3.315
dc.sourceWagner, M., Khoury, H., Willet, J., Rindress, D., & Goetghebeur, M. (2016). Can the EVIDEM Framework Tackle Issues Raised by Evaluating Treatments for Rare Diseases: Analysis of Issues and Policies, and Context-Specific Adaptation. PharmacoEconomics, 34(3), 285-301. https://doi.org/10.1007/s40273-015-0340-5
dc.sourceWalley, N. M., Pena, L. D. M., Hooper, S. R., Cope, H., Jiang, Y.-H., McConkie-Rosell, A., … Shashi, V. (2018). Characteristics of undiagnosed diseases network applicants: Implications for referring providers. BMC Health Services Research, 18(1), 652. https://doi.org/10.1186/s12913-018-3458-2
dc.sourceWangler, M. F., Yamamoto, S., Chao, H.-T., Posey, J. E., Westerfield, M., Postlethwait, J., … Bellen, H. J. (2017). Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics, 207(1), 9-27. https://doi.org/10.1534/genetics.117.203067
dc.sourceXin, X.-X., Zhao, L., Guan, X.-D., & Shi, L.-W. (2016). Determinants and Equity Evaluation for Health Expenditure Among Patients with Rare Diseases in China. Chinese Medical Journal, 129(12), 1387-1393. https://doi.org/10.4103/0366-6999.183425
dc.sourceYeung, C. H. T., Santesso, N., Zeraatkar, D., Wang, A., Pai, M., Sholzberg, M., … Iorio, A. (2016). Integrated multidisciplinary care for the management of chronic conditions in adults: An overview of reviews and an example of using indirect evidence to inform clinical practice recommendations in the field of rare diseases. Haemophilia, 22(S3), 41-50. https://doi.org/10.1111/hae.13010
dc.sourceZelei, T., Molnár, M. J., Szegedi, M., & Kaló, Z. (2016). Systematic review on the evaluation criteria of orphan medicines in Central and Eastern European countries. Orphanet Journal of Rare Diseases, 11. https://doi.org/10.1186/s13023-016-0455-6
dc.sourceZurynski, Y., Deverell, M., Dalkeith, T., Johnson, S., Christodoulou, J., Leonard, H., … APSU Rare Diseases Impacts on Families Study group. (2017). Australian children living with rare diseases: Experiences of diagnosis and perceived consequences of diagnostic delays. Orphanet Journal of Rare Diseases, 12(1), 68. https://doi.org/10.1186/s13023-017-0622-4
dc.sourceinstname:Universidad del Rosario
dc.sourcereponame:Repositorio Institucional EdocUR
dc.subjectEnfermedades raras
dc.subjectComplicaciones
dc.subjectTerapias
dc.subjectAdministración
dc.subjectEconomía
dc.titleCaracterización de las prácticas en la atención de enfermedades raras : revisión sistemática de la literatura
dc.typemasterThesis


Este ítem pertenece a la siguiente institución