Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges.

This document provides a comprehensive summary of evidence on the current situation of rare diseases (RDs) globally and regionally, including conditions, practices, policies, and regulations, as well as the challenges and barriers faced by RD patients, their families, and caregivers. The document builds on a review of academic literature and policies and a process of validation and feedback by a group of seven experts from across the globe. Panelists were selected based on their academic merit, expertise, and knowledge regarding the RD environment. The document is divided into five main sections: (1) methodology and objective; (2) background and context; (3) overview of the current situation and key challenges related to RDs covering six dimensions: burden of disease, patient journey, social impact, disease management, RD-related policies, and research and development; (4) recommendations; and (5) conclusions. The recommendations are derived from the discussion undertaken by the experts on the findings of this review and provide a set of actionable solutions to the challenges and barriers to improving access to RD diagnosis and treatment around the world. The recommendations can support critical decision-making, guiding efforts by a broad range of RDs stakeholders, including governments, international organizations, manufacturers, researchers, and patient advocacy groups.

Efecto del diagnóstico de la diabetes mellitus y su complicación con los trastornos de la conducta alimentaria / The effect of diabetes mellitus diagnosis and its complication with eating disorders

RESUMEN El diagnóstico de la Diabetes Mellitus (DM) para ciertas personas puede puede llegar a ser un momento de estrés intenso producto del impacto psicosocial que genera su diagnóstico, además de una exigencia exagerada por mantener el peso dentro de un rango normal estilo de vida extremadamente saludable. Producto de lo anterior existen sujetos que tienen una alta probabilidad de padecer Trastornos de la Conducta Alimentaria (TCA), que son un conjunto de enfermedades mentales crónicas y complejas en donde se presenta una elevada preocupación por la comida, el peso y/o imagen corporal y el uso de conductas compensatorias no saludables con el objetivo de controlar el peso. El objetivo de este trabajo fue revisar la bibliografía disponible con respecto al manejo y tratamiento de la DM y cómo puede gatillar en ciertos tipos de TCA. Describiendo el peligro metabólico de su coexistencia, como se desarrolla y cómo se manifiestan en los sujetos. Ya que se observa que el tratamiento impuesto y recomendado en la actualidad está generando el escenario propicio para la presencia de los TCA. Lo cual hoy en día es una enfermedad que va en aumento y genera un riesgo mortal en las personas que la padecen.

ABSTRACT The diagnosis of Diabetes Mellitus (DM) can, for some, become a time of intense stress due to the psychosocial impact generated by the diagnosis, in addition to an exaggerated demand for maintaining weight in a normal range an extremely healthy lifestyle. Thus, some persons have a high probability of suffering from a Eating Disorder (ED), which is a chronic and complex mental illness where there is a high concern for food, weight and / or image and the use of unhealthy compensatory behaviors in order to control weight. The objective of this work was to review the available literature regarding the management and treatment of DM and how it can trigger certain types of ED. We also describe the metabolic danger of their coexistence, how ED develops and how it is manifested. We argue that current recommended treatment generates a favorable scenario for the presence of ED, which today is a disease that is increasing and represents a mortal risk among people who suffer from it.

Modelos de atención en salud en enfermedades raras: revisión sistemática de la literatura / Healthcare Models for Rare Diseases: A Systematic Review of the Literature / Modelos de atenção em saúde em doenças raras: revisão sistemática da literatura

Resumen Las enfermedades de baja prevalencia requieren modelos de gestión diferentes a los de otras condiciones. Este trabajo buscó recoger las experiencias internacionales. Se realizaron búsquedas en numerosas bases de datos de literatura indexada y de documentos grises. Un panel de expertos de diferentes disciplinas revisó los resúmenes de la literatura y su posible adaptación al contexto colombiano. La búsqueda inicial arrojó 5604 referencias; la búsqueda manual adicionó 31 referencias, finalmente 78 artículos aportaron información útil para el análisis. Los resultados permiten afirmar que existen varios componentes de un modelo de gestión, estos son: políticas, legislación y aspectos administrativos; definición y codificación de enfermedades; investigación y educación; centros especializados, centros de excelencia y redes de atención; diagnóstico, tamizaje, prevención y promoción; inclusión de medicamentos huérfanos; rehabilitación y manejo paliativo; organizaciones de pacientes, grupos o redes de apoyo; y apoyo sociosanitario (inclusión laboral y educativa).

Abstract Low prevalence diseases require management models different from those used in other conditions. This work was intended to gather international experiences on this issue. Searches were made in many indexed literature databases as well as in those with gray literature. A panel of experts from different disciplines checked the abstracts and their potential adaptation into the Colombian context. The initial search retrieved 5604 references and the manual search added other 31 references. At the end, 78 articles provided useful information for the analysis. The results allow to state that a management model consists of several components, to wit: policies, legislation and administrative aspects; definition and coding of the diseases; research and education; specialized centers; excellence centers and service networks; diagnosis, screening, prevention, and promotion; orphan drug inclusion; rehabilitation and palliative care; organizations of patients and support groups or networks; and social-sanitary support (labor and educational inclusion).

Resumo As doenças de baixa prevalência requerem modelos de gestão diferentes aos de outras condições. Este trabalho visou coletar experiências internacionais. Realizaram-se pesquisas em numerosos bancos de dados de literatura indexada e documentos cinza. Um painel de expertos de diferentes disciplinas revisou os resumos da literatura e sua possível adaptação no contexto colombiano. A procura inicial resultou em 5604 referências; a procura manual adicionou 31 referências, por fim 78 artigos forneceram informações úteis para a análise. Os resultados permitem afirmar que existem vários componentes de um modelo de gestão, quais são: políticas, legislações e aspetos administrativos; definição e codificação de doenças; pesquisa e ensino; centros especializados, centros de excelência e redes de atendimento; diagnóstico, triagem, prevenção e promoção; inclusão de medicamentos órfãos; reabilitação e cuidados paliativos; organizações de pacientes, grupos ou redes de apoio; e apoio sócio-sanitário (inclusão laboral e educativa).

HTA Implementation in Latin American Countries: Comparison of Current and Preferred Status.

OBJECTIVES: To provide an overview about the current status of health technology assessment (HTA) implementation in Latin American countries and to identify long-term objectives considering regional commonalities. METHODS: We conducted a survey among participants of the 5th Latin American Future Trends Conference in October 2015. Thirty-seven respondents from eight Latin American countries provided insights about the current and preferred future status of HTA implementation related to human capacity building, HTA financing, process and organizational structure for HTA, scope of mandatory HTA, decision criteria, standardization of HTA methodology, mandating the use of local data, and international collaboration in HTA. RESULTS: Survey respondents reported insufficient human resources and public investment for HTA implementation. Organizational structure and legislation framework of HTA differ considerably across countries. According to survey respondents, in the future policymakers should rely more on the assessment of therapeutic value, cost-effectiveness, and budget impact criteria by applying explicit thresholds, potentially in a multicriteria decision analysis framework. HTA should not be restricted to policy decisions of new technologies but it should also be used for the revision of previous decisions. In addition, the quality and transparency of HTA have to be strengthened. CONCLUSIONS: HTA plays an increasingly important role in Latin American countries. Each country needs to record its current implementation status and identify components for improvement. Duplication of efforts can be reduced if international collaboration is integrated into national HTA implementation.