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Volume 14 Issue 2
Mar.  2023
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WANG Wei, ZHANG Yuelun, GAO Sihao, SONG Hongmei. Protocol for the Development of the Guidelines for the Genetic Diagnosis of Autoinflammatory Diseases in China[J]. Medical Journal of Peking Union Medical College Hospital, 2023, 14(2): 241-246. DOI: 10.12290/xhyxzz.2023-0077
Citation: WANG Wei, ZHANG Yuelun, GAO Sihao, SONG Hongmei. Protocol for the Development of the Guidelines for the Genetic Diagnosis of Autoinflammatory Diseases in China[J]. Medical Journal of Peking Union Medical College Hospital, 2023, 14(2): 241-246. DOI: 10.12290/xhyxzz.2023-0077
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Protocol for the Development of the Guidelines for the Genetic Diagnosis of Autoinflammatory Diseases in China

  • 1.

    Department of Pediatrics, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

  • 2.

    Chinese Pharmacists Association Rare Diseases Medication Working Committee, Beijing 100730, China

  • 3.

    Chinese Alliance of Pediatric Rheumatic & Immunologic Diseases, Beijing 100730, China

  • 4.

    Medical Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

  • 5.

    The Subspecialty Group of Immunology, the Society of Pediatrics, Chinese Medical Association, Beijing 100730, China

Funds: 

National Key Research and Development Program of China 2021YFC2702001

National High Level Hospital Clinical Research Funding 2022-PUMCH-B-079

More Information
  • Corresponding author:

    SONG Hongmei, E-mail: songhm1021@126.com

  • Received Date: February 12, 2023
  • Accepted Date: February 13, 2023
  • Available Online: March 02, 2023
  • Issue Publish Date: March 29, 2023
    Graphical Abstract
    • Abstract
  • Autoinflammatory diseases (AIDs) were defined over 20 years ago, and since then, 56 monogenic AIDs have been discovered. Due to the overlapping symptoms, AIDs are prone to misdiagnosis and mistreatment. Different AIDs are characterized by distinct genetic variants, and some AIDs have shown unique genetic characteristics in the Chinese population. Currently, there is no evidence-based guideline for the genetic diagnosis of AIDs in China. To further standardize the early recognition and precision diagnosis of AIDs, it is urgently needed to develop evidence-based clinical practice guidelines on the genetic diagnosis of AIDs to provide scientific guidance for the clinical management of AIDs. The Chinese Pharmacists Association Rare Diseases Medication Working Committee and the Subspecialty Group of Immunology from the Society of Pediatrics of the Chinese Medical Association have jointly launched a protocol for the development of the Guidelines for the Genetic Diagnosis of Autoinflammatory Diseases in China, which was registered and written following WHO Handbook for Guideline Development with the help of nationwide multidisciplinary experts organized by the Department of Pediatrics, Peking Union Medical College Hospital. A formal document of the guidelines will be devised and published following the workflow of evidence-based guideline development. This paper introduces the Guidelines for the Genetic Diagnosis of Autoinflammatory Diseases in China, including its background, significance, objectives, target population, guideline users, guideline working group members, and the workflow of guideline development.
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    • References (20)
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