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 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.
ObjectiveTo summarize the diagnosis and clinicopathological features of primary intestinal extranodal nasal type NK/T-cell lymphoma (PI-ENKTCL), and to enhance the diagnostic and differential diagnosis of this rare disease.MethodsThe clinicopathologic data of a patient with PI-ENKTCL admitted to Gansu Provincial Hospital in January 2019 were retrospectively analyzed.ResultsWe diagnosed PI-ENKTCL doubtfully by PET-CT , and after the discussion of MDT, we finished radical operation which achieved R0 resection. The pathological type was consistent with PI-ENKTCL diagnosis. The operation lasted 280 minutes, and the intraoperative blood loss was about 50 mL. Postoperative pathology confirmed that the tumor margin was negative and no postoperative complication occurred, and the patient was discharged successfully on the 13th day after the operation. The patient, followed for five months after operation, was treated with L-GMOEX [gemcitabine+oxaliplatin combined with L-asparaginase (L-ASP)] chemotherapy for four periods at time, and the treatment effect continued to be followed up.ConclusionsIt is necessary to discuss by MDT for doubtfully diagnosing PI-ENKTCL because of the disease being rare. The imaging diagnosis is mainly PET-CT. Surgical resection is the main treatment, we should formulate the best chemotherapy according to post-operation pathological results, for improving the patient’s prognosis and prolonging patient’s life with PI-ENKTCL.
ObjectiveTo learn the development and implementation of orphan drug policies, in order to provide decision-making references for the establishment of orphan drug policy according with China's national conditions. MethodsWe electronically searched databases including CBM, CNKI, VIP, EMbase, PubMed, Web of Knowledge, National Library of Medicine, CRD database, The Campbell Library, The Cochrane Library and the drug administration websites of USA, Canada, UK, Ireland, the Netherlands, Germany, Spain, France, Australia, New Zealand, China, India, South Korea, Japan, and South Africa to collect studies about orphan drug policy. The search date was up to February 2014. Two reviewers independently screened literature, and extracted data. Then, all included orphan drug policies were summarized and a comparative analysis was performed. ResultsA total of 110 studies were included. USA, Singapore, Japan, Australia, European Union, Chinese Taiwan and South Korea had introduced orphan drugs incentive policies. South Africa, India, Canada, New Zealand and Chinese Hongkong were producing orphan drugs policy frameworks. The main items of orphan drug policy included marketing exclusivity, tax incentives, technical assistance, grant funding, expedite approval process and prolong re-evaluated time. ConclusionIn mainland China, there is no orphan disease management policy. China should establish specific organization and working procedures, promote orphan drug policy related legislative work, clarify the definition and prevalence of orphan diseases, provide incentive mechanism to promote the research and development of orphan drugs, provide enterprises to develop compensation mechanism to safeguard the rights and interests of patients, as well as establish patients register network platform to track the processes of the diseases.
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.
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.
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.