The West China Hospital experience for exploration and practice of a new management model for rare diseases_West China Medical Journal

Authors：

GONG Li ¹ , HE Qian ² , LI Jingyu ¹ , LI Dongze ³ , CHEN Yilong ⁴ ,  WAN Zhi ¹

1. Outpatient Department, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China;
2. West China School of Nursing, Sichuan University / Outpatient Department, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China;
3. Emergency Department, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China;
4. Biomedical Big data Center, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China;

Corresponding author：

WAN Zhi, Email: 303680215@qq.com

Keywords：

Rare disease; Management model; West China Hospital experiences; Cohesion; Integration

DOI：

10.7507/1002-0179.202110185

Video：

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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.

Citation： GONG Li, HE Qian, LI Jingyu, LI Dongze, CHEN Yilong, WAN Zhi. The West China Hospital experience for exploration and practice of a new management model for rare diseases. West China Medical Journal, 2021, 36(12): 1726-1729. doi: 10.7507/1002-0179.202110185 Copy

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7.	Ferreira CR. The burden of rare diseases. Am J Med Genet A, 2019, 179(6): 885-892.
8.	Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet, 2020, 28(2): 165-173.
9.	Wright CF, FitzPatrick DR, Firth HV. Paediatric genomics: diagnosing rare disease in children. Nat Rev Genet, 2018, 19(5): 325.
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13.	Zhang S, Chen L, Zhang Z, et al. Orphan drug development in China: progress and challenges. Lancet, 2019, 394(10204): 1127-1128.
14.	Gong S, Li D, Dong D. How do patients and doctors perceive medical services for rare diseases differently in China? Insights from two national surveys. Int J Environ Res Public Health, 2020, 17(16): 5961.
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18.	Mueller CM, Rao GR, Miller Needleman KI. Precision medicines’ impact on orphan drug designation. Clin Transl Sci, 2019, 12(6): 633-640.
19.	Sarpatwari A, Beall RF, Abdurrob A, et al. Evaluating the impact of the orphan drug act’s seven-year market exclusivity period. Health Aff (Millwood), 2018, 37(5): 732-737.
20.	葛琳, 魏翠洁, 史录文, 等. 中国罕见病用药现状研究. 北京医学, 2018, 40(5): 432-434.
21.	国家卫生健康委办公厅. 国家卫生健康委办公厅关于建立全国罕见病诊疗协作网的通知. (2019-02-15)[2021-12-01]. http://www.nhc.gov.cn/yzygj/s7659/201902/3a8228589bf94e6d9356008763387cc4.shtml.
22.	王煜, 卢建华, 赵太宏. 国外罕见病管理制度对中国的启示. 基础医学与临床, 2017, 37(2): 273-276.

1. 丁洁, 王琳. 中国罕见病研究报告(2018). 北京: 中国医药科技出版社, 2018: 7-10.
2. 闵浩巍, 王飞, 姜召芸, 等. 罕见病基因治疗的研究进展. 国际药学研究杂志, 2017, 44(2): 123-126.
3. Boycott KM, Vanstone MR, Bulman DE, et al. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet, 2013, 14(10): 681-691.
4. Jules JB. Rare diseases and orphan drugs. San Diego:Academic Press, 2014: 3-8.
5. Cui Y, Han J. A proposed definition of rare diseases for China: from the perspective of return on investment in new orphan drugs. Orphanet J Rare Dis, 2015, 10: 28.
6. Song P, Gao J, Inagaki Y, et al. Rare diseases, orphan drugs, and their regulation in Asia: current status and future perspectives. Intractable Rare Dis Res, 2012, 1(1): 3-9.
7. Ferreira CR. The burden of rare diseases. Am J Med Genet A, 2019, 179(6): 885-892.
8. Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet, 2020, 28(2): 165-173.
9. Wright CF, FitzPatrick DR, Firth HV. Paediatric genomics: diagnosing rare disease in children. Nat Rev Genet, 2018, 19(5): 325.
10. Lacoste J. Research in rare disease: from genomics to proteomics. Assay Drug Dev Technol, 2018, 16(1): 12-14.
11. Tambuyzer E, Vandendriessche B, Austin CP, et al. Therapies for rare diseases: therapeutic modalities, progress and challenges ahead. Nat Rev Drug Discov, 2020, 19(2): 93-111.
12. Anderson RH, Francis KR. Modeling rare diseases with induced pluripotent stem cell technology. Mol Cell Probes, 2018, 40: 52-59.
13. Zhang S, Chen L, Zhang Z, et al. Orphan drug development in China: progress and challenges. Lancet, 2019, 394(10204): 1127-1128.
14. Gong S, Li D, Dong D. How do patients and doctors perceive medical services for rare diseases differently in China? Insights from two national surveys. Int J Environ Res Public Health, 2020, 17(16): 5961.
15. Cai X, Yang H, Genchev GZ, et al. Analysis of economic burden and its associated factors of twenty-three rare diseases in Shanghai. Orphanet J Rare Dis, 2019, 14(1): 233.
16. 国家卫生健康委员会, 科学技术部, 工业和信息化部, 等. 关于公布第一批罕见病目录的通知. (2018-05-11)[2021-10-31]. http://www.gov.cn/zhengce/zhengceku/2018-12/31/content_5435167.htm.
17. 张抒扬, 董咚. 2020 中国罕见病综合社会调研. 北京: 人民卫生出版社, 2020: 1-70.
18. Mueller CM, Rao GR, Miller Needleman KI. Precision medicines’ impact on orphan drug designation. Clin Transl Sci, 2019, 12(6): 633-640.
19. Sarpatwari A, Beall RF, Abdurrob A, et al. Evaluating the impact of the orphan drug act’s seven-year market exclusivity period. Health Aff (Millwood), 2018, 37(5): 732-737.
20. 葛琳, 魏翠洁, 史录文, 等. 中国罕见病用药现状研究. 北京医学, 2018, 40(5): 432-434.
21. 国家卫生健康委办公厅. 国家卫生健康委办公厅关于建立全国罕见病诊疗协作网的通知. (2019-02-15)[2021-12-01]. http://www.nhc.gov.cn/yzygj/s7659/201902/3a8228589bf94e6d9356008763387cc4.shtml.
22. 王煜, 卢建华, 赵太宏. 国外罕见病管理制度对中国的启示. 基础医学与临床, 2017, 37(2): 273-276.

West China Medical Journal

The West China Hospital experience for exploration and practice of a new management model for rare diseases

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