ObjectivesTo provide a useful framework for improved understanding of international value drivers in the decision-making process of medical insurance access, and to explore the value assessment criteria of orphan drugs from stakeholders’ perspective.MethodsPubMed, EMbase, CINAHL Plus, ProQuest, Web of Science, CNKI and WanFang Data databases were electronically searched to collect studies from January 1st, 1983 to December 31st, 2018. Research questions were constructed based on SPIDER model. We established the inclusion and exclusion criteria to filter studies. Study quality was evaluated using the Critical Appraisal Skills Programme (CASP) checklist. A thematic synthesis was undertaken to develop descriptive themes, analytical constructs and third-level themes of value drivers by NVivo 11 software, and confidence in the findings was assessed using the CERQual method.ResultsA total of 10 studies including 20 research countries were included. Fifty descriptive themes were interpreted and embedded within 14 analytical constructs and 3 third-level themes after induction. Specifically, 3 broad themes were disease-related influence factors, which included severity, unmet requirements, disease burden, affected individuals, and moral and ethical considerations; drug-related influence factors, which included safety, efficacy, economics, innovation, quality of evidence; and some external and non-pharmaceutical intrinsic properties factors, which included reimbursement status in other countries or regions, government goals and priorities, confirmed drug supply and impact on environment.ConclusionsIn addition to conventional considerations such as efficacy and pharmacoeconomics, stakeholders are willing to take a broader perspective when in the case of the value assessment of orphan drugs. Comprehensive understanding of these value drivers is important to shape policy and enhance decision-making.
Rare diseases are a kind of diseases with very low incidence and prevalence. They are difficult to diagnose, treat and use drugs. Multi-disciplinary team (MDT) has become the main mode of modern medical diagnosis and treatment. Many hospitals at home and abroad have begun to apply MDT in the diagnosis and treatment of rare diseases. This paper introduces the MDT mode of rare diseases at home and abroad, focusing on the mode, work flow and content of the MDT service system for rare diseases in West China Hospital of Sichuan University, and discusses the problems and optimization suggestions of the current construction of the MDT service system for rare diseases. The purpose is to provide some reference for the establishment of MDT model of rare diseases in China.
Objective To sort out the policies related to rare diseases in China, analyze and summarize the focus and potential problems of relevant policy texts, and provide decision-making references for the subsequent formulation and improvement of policies in the field of rare diseases in China. Methods We searched for relevant policy documents in the field of rare diseases at the national level from 2018 to 2023, constructed a three-dimensional analysis framework based on content analysis of “policy tool-stakeholder-policy strength” in the field of rare diseases in China, and conducted cross-analysis between policy tools, stakeholders, and policy strength. Results Finally, 39 policy texts were included. There were 112 policy tool dimension codes, with environment-based, supply-based, and demand-based tools accounting for 62.5%, 30.36%, and 7.14%, respectively. There were 229 stakeholder dimension codes, including 42.79% for government departments, 19.65% for medical institutions, 19.65% for corporate units, and 17.90% for patients and their families. The average score for policy strength was 2.2 points. Cross-analysis showed that government departments had the highest proportion in the dimensions of supply-based, environment-based and demand-based tools (45.76%, 43.45%, 32.00%, respectively). The policy strength of environmental tools was the strongest (124 points). The policy strength of government departments was the strongest (78 points). Conclusions There is a certain imbalance in the design and configuration of rare disease policy tools in China, and there is uneven distribution of rare disease policies among stakeholders. Although the overall effectiveness of policies in the field of rare diseases is showing a positive growth trend, there may be a mismatch between policy tools, stakeholders, and policy strength.
Rare diseases are a collective term for a category of diseases with extremely low incidence or prevalence rates. They are characterized by a variety of diseases, difficult diagnosis, complex conditions, etc. Only about 5% of rare diseases have treatment drugs. They impose a heavy burden on society and the families of rare diseases patients, and are a major global challenge. Rare diseases medical talents are an important component of the development of the rare diseases industry. After years of practical exploration, the construction of rare diseases medical talent training systems at home and abroad has gradually achieved results. This article analyzes the current situation of medical talent cultivation in the field of rare diseases, and proposes thoughts and suggestions for the cultivation of rare diseases medical talents in China, providing reference for the construction of the rare patient talent system.
At present, there are some problems in the post-diagnosis service of rare diseases, such as immature service path, imperfect health supervision and discontinuous to post-diagnosis data flows. How to properly solve these problems and find a way to promote the post-diagnosis service of rare diseases is the focus now. Based on the actual situation of diagnosis and treatment of patients with rare diseases in West China Hospital of Sichuan University and literature. This paper finds that making full use of the method of intelligent continuous management, establishing a continuous health management system, and integrating rare disease data information through intelligent health management platform and internet medical treatment can alleviate the shortage of medical resources and solve the dilemma of post-diagnosis service of rare diseases. At the same time, this paper analyzes the dilemma of post-diagnosis services of rare diseases and the feasible countermeasures of intelligent medical assistance management, and explores the management of rare diseases led by tertiary hospitals and joint built by medical units of the hospital alliance, in response to the national graded diagnosis and treatment policy, so as to provide all-round health protection for patients with rare diseases for reference and learning.
Rare diseases have problems with low number of cases, low social awareness, and long time of diagnosis. “Targeted doctor” is the first step to help rare disease patients start the correct path of diagnosis and treatment. This article introduces the design of a decision-making engine for patients with rare diseases by constructing a knowledge graph of rare diseases and experts, using an intelligent question-and-answer system, and combining big data and artificial intelligence methods. This engine can perform rare disease pre-screening based on patient portraits and other information, and recommend the best visiting route to patients, thereby improving the efficiency of rare disease patients’ medical service system and enhancing the decision-making ability of rare diseases.
In 2021, West China Hospital of Sichuan University established a rare disease diagnosis and treatment and research center. The center adopts the rare disease management model of “one cohesion + four integration”, condenses the core of management, integrates clinical resources, regional alliance resources, training resources and research resources, and explores solutions for all-round services for patients with rare diseases. This article aims to explore the rare disease management model of regional central hospitals and introduces the above-mentioned rare disease management model. The purpose of this article is to promote this model, focus on the advantages of clinical departments and research institutes (offices), increase regional integration, give play to the synergy of regional alliances in clinical diagnosis and treatment and personnel training, and use international cooperation as an opportunity to promote breakthroughs in new drugs and technologies for rare diseases to benefit patients with rare diseases in China.
Rare diseases are characterized by low incidence rates, complex etiologies, and multi-system involvement. In China, the patient population exceeds 20 million, who face challenges such as difficulty accessing medical care, obtaining accurate diagnoses, and managing their conditions. To address these challenges, West China Hospital of Sichuan University has developed a comprehensive “pre-diagnosis, diagnosis, and post-diagnosis” management model for rare diseases, with a focus on “internet plus digital intelligence empowerment”. This approach enhances accessibility in the pre-diagnosis phase, improves diagnostic efficiency during diagnosis, and achieves full-cycle management post-diagnosis, establishing a continuous care system that ensures “medical support beyond the hospital”. This article introduces the innovative exploration and practical experience of West China Hospital of Sichuan University in the holistic management of rare diseases, and provide a reference for its subsequent promotion.