Application status and development prospect of digital intelligence technology in the diagnosis and treatment of rare diseases
10.12173/j.issn.1005-0698.202503209
- VernacularTitle:数智化技术在罕见病诊疗中的应用现状与展望
- Author:
Yujie YANG
1
;
Leyuan QI
;
Yanbo CAO
;
Xiaotian WEN
;
Jicong LIU
;
Bixiao CHEN
;
Yawei LIU
;
Guohua HE
;
Yu TIAN
Author Information
1. 首都医科大学公共卫生学院(北京 100069)
- Publication Type:Journal Article
- Keywords:
Rare diseases;
Digital intelligence;
Full life-cycle
- From:
Chinese Journal of Pharmacoepidemiology
2025;34(8):972-985
- CountryChina
- Language:Chinese
-
Abstract:
Rare diseases pose significant diagnostic and therapeutic challenges,carrying a high disease burden,their management critically reflects a nation's public health resilience.Currently,China faces key challenges such as scarce treatments,fragmented services,and low drug accessibility in rare disease care,which urgently require systemic solutions.Digital-intelligent technology as a key breakthrough are expected to resolve the challenges in this field.Although its application in the field of rare diseases is gradually expanding,there is a lack of systematic compilation of studies to elucidate how to precisely enhance the precision,synergy and sustainability of diagnosis and treatment.The key challenges in rare disease care concentrate in four areas:inefficiency in prenatal screening,uneven distribution of medical resources,low efficiency in social organization collaboration,and ineffective information dissemination.The"4C"strategy,based on digital-intelligent technology,can address these issues:①coordination,boost prenatal screening awareness and capacity via digital-intelligent platforms to strengthen prevention;②cooperation,deepen collaboration within specialist networks,empowering institutions to enhance diagnostic capacity;③co-creation,empower support organizations to optimize resources,efficiency;④cognition,minimize information dissipation through efficient platforms,improving patient and family quality of life.This establishes an integrated digital-intelligent rare disease model encompassing"screening-diagnosis-treatment-care".
