Analysis of the status quo of the perceptions and challenge of general practitioner in rare disease management

HU Bolin; XUAN Jinyan; SHEN Jiaying; HUANG Zhenhua; SUN Junsheng; REN Jingjing

doi:10.16766/j.cnki.issn.1674-4152.004131

Volume 23 Issue 8

Aug. 2025

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Article Navigation > Chinese Journal of General Practice > 2025 > 23(8): 1346-1349

HU Bolin, XUAN Jinyan, SHEN Jiaying, HUANG Zhenhua, SUN Junsheng, REN Jingjing. Analysis of the status quo of the perceptions and challenge of general practitioner in rare disease management[J]. Chinese Journal of General Practice, 2025, 23(8): 1346-1349. doi: 10.16766/j.cnki.issn.1674-4152.004131

Citation:

HU Bolin, XUAN Jinyan, SHEN Jiaying, HUANG Zhenhua, SUN Junsheng, REN Jingjing. Analysis of the status quo of the perceptions and challenge of general practitioner in rare disease management[J]. Chinese Journal of General Practice, 2025, 23(8): 1346-1349. doi: 10.16766/j.cnki.issn.1674-4152.004131

Citation:

HU Bolin, XUAN Jinyan, SHEN Jiaying, HUANG Zhenhua, SUN Junsheng, REN Jingjing. Analysis of the status quo of the perceptions and challenge of general practitioner in rare disease management[J]. Chinese Journal of General Practice, 2025, 23(8): 1346-1349. doi: 10.16766/j.cnki.issn.1674-4152.004131

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Analysis of the status quo of the perceptions and challenge of general practitioner in rare disease management

doi: 10.16766/j.cnki.issn.1674-4152.004131

HU Bolin^{1, 2}
, XUAN Jinyan³
, SHEN Jiaying⁴
, HUANG Zhenhua^{1, 2}
, SUN Junsheng^{1, 2}
, REN Jingjing^{5
,
,}

1.
Department of General Practice, Longgang District Central Hospital of Shenzhen, Shenzhen, Guangdong 518116, China

Funds:

72274169

LGWJ2022-6

2024-2027

Received Date: 2024-10-17
Available Online: 2025-10-31

Abstract

Abstract

Objective To study the perception status of general practitioners about rare disease management, analyze the views about rare disease management of general practitioners, clarify the current status of the recognition and challenges of general practitioners in rare disease management, and provide reference opinions for improving the ability of general practitioners to manage rare diseases. Methods After literature review and expert consultation, preliminary items of the scale were determined. The questionnaire was then subjected to reliability and validity analysis to form the final questionnaire, targeting general practitioners and using the Questionnaire Star platform for completion. Analyzed using SPSS 27.0 statistical software. Results The scale was preliminarily determined to consist of 25 items in 3 dimensions, including basic information, cognitive status, and opinions on rare disease management, with a Cronbach's α coefficient of 0.895. Confirmatory factor analysis indicated good model fit. A total of 434 questionnaires were confirmed to be valid. Only 28.57% (124/434) passed, and there was no statistically significant difference in the cognition of rare diseases among general practitioners with different demographic characteristics (P>0.05). In their views on the management of rare diseases, the respondents believed that the difficulty of general practitioners in managing patients with rare diseases was to establish a diagnosis, monitor treatment, and support and manage complications. At the same time, the respondents believed that if general practitioners want to do a good job in the comprehensive management of patients with rare diseases, they need to "strengthen the follow-up of patients with rare diseases to ensure medication compliance. The rare disease management team, led by general practitioners, can provide continuous care for patients and help patients communicate with experts, coordinate complex management, and provide psychological support and professional guidance. Closely monitor the changes in the patient's condition, detect complications in time, carry out physical and psychological rehabilitation for patients with rare diseases, and refer patients with rare diseases with changes in their condition in a timely manner." Conclusion At present, general practitioners generally have insufficient understanding of rare diseases. The main challenges in rare disease management lie in the diagnosis, treatment, support and management of complications of rare diseases. Training should be strengthened to enhance the ability of general practitioners to manage rare diseases.
- Rare disease management,
- General practitioners,
- Perceptions,
- Investigative study

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References(18)

References

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