遗传性罕见病综合防控有了新模式

Core Insights - The article discusses the establishment of a comprehensive prevention and control model for hereditary rare diseases in Changsha, China, led by the reproductive and genetic team at the CITIC Xiyuan Reproductive and Genetic Specialist Hospital, which has been published in the international journal "Human Genetics and Genomics Advances" [1][2]. Group 1: Project Overview - The project, initiated in 2021, was commissioned by the Changsha Municipal Health Commission and involved collaboration with various local health institutions to implement a comprehensive health project for hereditary rare diseases [2]. - From January 2022 to June 2023, the project team conducted online family lineage surveys for 85,391 couples planning for pregnancy or in early pregnancy, and genetic testing for 1,414 high-risk couples [2]. - The results indicated that 562 couples were at high risk of having children with rare diseases, with a positive rate of 39.75% [2]. Group 2: Impact and Findings - The project successfully provided reproductive interventions for 319 families in Changsha, preventing the birth of 141 children with rare diseases [2]. - Genetic testing led to 25.09% of participating couples optimizing their reproductive decisions, and 32.74% of families altered their reproductive plans, significantly reducing the birth rate of children with rare diseases [2]. - The team discovered that "simultaneous testing of three family members" was a key factor in improving diagnostic rates, while individual testing could lead to missed diagnoses, providing critical insights for future testing strategies [2]. Group 3: Changsha Model - The project introduced the "Changsha Model" for the prevention and control of hereditary rare diseases, characterized by a government-led approach involving public participation, family lineage surveys, genetic testing, and reproductive interventions [3]. - This model aims for comprehensive coverage of reproductive populations starting from pre-marital and prenatal screenings, effectively identifying high-risk families and providing reproductive guidance to prevent intergenerational transmission of hereditary rare diseases [3]. - The findings indicate that this model is well-suited to China's context and addresses the gaps in diagnosis and management of hereditary rare diseases in resource-limited areas, contributing a "Chinese solution" to global rare disease prevention [3].