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Open Access Short Communication Issue
Development on the Proficiency of Diagnosis and Clinical Care for Rare Diseases in Young Physicians in China
Health Care Science 2025, 4(6): 414-423
Published: 01 December 2025
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Background

As medical advancements continue and public health levels rise, increasing attention is being paid to the diagnosis and treatment of rare diseases. Given its large population, China's efforts in enhancing overall clinical abilities for rare disease diagnosis and treatment are crucial. However, young physicians still face significant challenges in their professional capabilities in this field.

Methods

Based on interviews with young physicians and medical education experts from rare disease diagnosis and research institutions, this study explored systematic approaches to cultivating and enhancing the expertise of young Chinese physicians in rare disease diagnosis and treatment, along with the necessary support systems.

Results

By thematic analysis, we identified six effective training models: (1) mentorship teaching, (2) specialized training systems, (3) integration of rare disease knowledge into standard curricula, (4) continuous education and career path planning, (5) application of information technology, and (6) institution‐supported international collaboration. We also discussed critical implementation challenges such as resource intensity and interdisciplinary friction.

Conclusion

Based on these findings, we proposed a series of targeted strategies and recommendations. This study provided valuable experiences for young physicians in clinical and research institutions nationwide, thereby improving the overall level of rare disease diagnosis and treatment.

Issue
Expert Consensus of Multidisciplinary Diagnosis and Treatment for Paroxysmal Nocturnal Hemoglobinuria(2024)
Medical Journal of Peking Union Medical College Hospital 2024, 15(5): 1011-1028
Published: 30 September 2024
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Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disease caused by abnormal expression of glycosylphosphatidylinositol (GPI) on the cell membrane due to mutations in the phosphatidylinositol glycan class A(PIGA) gene. It is commonly characterized by intravascular hemolysis, repeated thrombosis, and bone marrow failure, as well as multiple systemic involvement symptoms such as renal dysfunction, pulmonary hypertension, swallowing difficulties, chest pain, abdominal pain, and erectile dysfunction. Due to the rarity of PNH and its strong heterogeneity in clinical manifestations, multidisciplinary collaboration is often required for diagnosis and treatment. Peking Union Medical College Hospital, relying on the rare disease diagnosis and treatment platform, has invited multidisciplinary clinical experts to form a unified opinion on the diagnosis and treatment of PNH, and formulated the Expert Consensus of Multidisciplinary Diagnosis and Treatment for Paroxysmal Nocturnal Hemoglobinuria (2024), with the hope of promoting the standardization of PNH diagnosis and treatment.

Issue
Exploration of the Clinical Postdoctoral Teaching Model in the Department of Rare Diseases
Medical Journal of Peking Union Medical College Hospital 2024, 15(5): 1224-1229
Published: 22 July 2024
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The clinical medicine postdoctoral training program embodies a pioneering initiative in China's pursuit of excellence in medical education in the contemporary era. The establishment of the Department of Rare Diseases at Peking Union Medical College Hospital in 2023 signifies a momentous milestone, making it the nation's inaugural clinical department exclusively dedicated to diagnosis and treatment of patients with rare diseases. Aligned with the Consensus on Core Competency Framework for Residency Education Among China Consortium of Elite Teaching Hospitals for Residency Education, the clinical postdoctoral program in the Department of Rare Diseases underscores a holistic advancement of fundamental competencies within the framework of "three basics and three stricts". This approach is further complemented by the refinement of teaching evaluation and feedback systems. The program aspires to serve as an educational paradigm for cultivating elite talents in the field of rare disease medicine in China and nurture multifaceted talents equipped with exceptional clinical insight and comprehensive capabilities, thereby alleviating the acute shortage of adept professionals in the domain of rare diseases and propelling the field's progression in China.

Issue
Interpretation on Chinese Guidelines for the Diagnosis and Treatment of Heart Failure 2024
Medical Journal of Peking Union Medical College Hospital 2024, 15(4): 801-806
Published: 19 June 2024
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In the past few years, there have been many breakthroughs in the treatment of heart failure, especially in drug therapy. The classification of chronic heart failure and treatment methods for heart failure and its complications are also constantly updated. In order to apply these achievements to a better diagnosis and treatment of heart failure patients in China, Chinese Society of Cardiology, Chinese Medical Association, Chinese College of Cardiovascular Physician, Chinese Heart Failure Association of Chinese Medical Doctor Association, Editorial Board of Chinese Journal of Cardiology have jointly published the Chinese Guidelines for the Diagnosis and Treatment of Heart Failure 2024, which comprehensively updates the new consensus and evidence-based treatment in the field of heart failure. These contents are of great significance for guiding diagnosis and treatment of heart failure patients in clinical practice. This article, therefore, aims to interpret the main updated contents and key points to provide readers with a better understanding of its key information.

Review Issue
Professional Competence for Clinicians: Assessment Methods and Research Progress
Medical Journal of Peking Union Medical College Hospital 2023, 14(6): 1296-1300
Published: 19 March 2023
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Professional competence is defined as the habitual and judicious use of communication, knowledge, technical skills, clinical reasoning, emotions, values, and reflection in daily clinical practice. At present, many studies focus on the application of professional competence to medical education and job evaluation in China. However, further theoretical and empirical research is still needed to facilitate Chinese medical education and physician career development in the future. This article reviews the assessment methods and dimensions of professional competence, as well as the research progress of professional competence in China, with the aim of providing reference for Chinese medical education and physician career development.

Issue
Gut Microbiome and Cardiovascular Health: Heart and Gut are Inextricably Linked
Medical Journal of Peking Union Medical College Hospital 2022, 13(5): 725-731
Published: 07 September 2022
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In recent years, with the progress of multi-omics and next-generation sequencing technology, the association between gut microbiome and cardiovascular diseases has attracted great attention around the world. Gut microbiota, as a "microbial organ", directly regulates the host's health status through lipopolysaccharide, metabolites like trimethylamine oxide and short-chain fatty acids, and affects the host's immunity through bacteria and their products. "Gut-heart axis" may be a breakthrough in the prevention and treatment of cardiovascular diseases. The paper briefly discusses the relationship between gut microbiome and cardiovascular diseases, the possible ways in which gut microbes affect cardiovascular health, and the regulation of gut microbiota by various factors.

Issue
Advances in Rare Diseases in China (2020—2021)
Medical Journal of Peking Union Medical College Hospital 2022, 13(1): 39-45
Published: 27 December 2021
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In 2020 and 2021, great progress was made in the field of rare diseases in China. In the aspect of rare disease related policies, China built the National Key Laboratory of Rare Diseases and prepared for the National Quality Control Center of Rare Diseases. China has granted zero tariffs on raw materials and drugs for rare diseases since 2021, and the number of rare diseases included in health insurance in local areas has increased. In the aspect of drugs for rare disease, during the past two years, 14 drugs for rare diseases were included in the system of national health insurance; 13 were approved by China National Medical Products Administration; and more gained the qualification for prior review. In the aspect of patient registration and epidemiological study of rare diseases, China enabled the National Rare Diseases Registry System and set up the registry regime. The first epidemiological study of myasthenia gravis in China was published. The screening programof lysosomal storage syndrome and the first cohort study on achondroplasia in China were started. Besides the official policies and channels, organizations and informational platforms for patients also played an important role in the field of rare diseases.

Issue
Autonomy of Patients and Informed Consent in Clinical Practice
Medical Journal of Peking Union Medical College Hospital 2022, 13(1): 147-151
Published: 01 November 2021
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This article addresses the ethical issues of respect for autonomy and informed consent, focusing on how clinicians should deal with these concepts in clinical practice. We first clarify the concept of respect for autonomy and its practical application, as well as informed consent. We then track the origin and development of informed consent both in western countries and in China. Followed by describing several challenges that limit the practice of informed consent, we make our suggestions so as to help clinicians handle the informed consent in daily practice.

Issue
Exploration and Practice of the Training System of Comprehensive Medical Talents at Peking Union Medical College Hospital
Medical Journal of Peking Union Medical College Hospital 2022, 13(1): 5-8
Published: 04 August 2021
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With the significant improvement of China's social and economic level, people's demand for high quality medical services is growing rapidly. There is an urgent need for more clinicians with solid foundations, excellent technology, and highly comprehensive quality. Peking Union Medical College Hospital (PUMCH) has continuously inherited and innovated the training model of outstanding medical talents. Based on previous experience, literature, and results of pilot research, PUMCH has explored and implemented the "Clinical Postdoctoral Program" since 2016, which is one of the innovations in postgraduate medical education in China, aiming at highly efficiently and continuously strengthening the students' ability of clinical practice, scientific research and teaching. This program cultivates high-level medical elite by optimizing the course system, innovating training mode, regrouping the faculty team, building effective evaluating and examining system, which provides a new train of thought and experience, and plays a significant role in the reserve forces of the development of national medical talents for the strategic goal of "Healthy China".

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