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.
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.
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.
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.