Genetic Rare Disease Prevention and Control: Family-Based Screening and Reproductive Interventions in Changsha.

Journal: HGG advances
Published Date: Aug 18, 2025

Abstract

Rare diseases pose a significant public health challenge, particularly in underserved regions such as China, where genomic diagnostic services and post-diagnosis management remain limited. This study assessed the effectiveness of a rare disease screening program in Changsha, China, which enrolled 85,391 couples between January 2022 and June 2023. Among these participants, suspected 1,414 high-risk couples undergoing genetic testing, with 562 found to be at high risk of having a child with a rare disease, yielding a positive rate of 39.75%. Reproductive interventions were implemented for 319 families, successfully preventing rare disease-affected births in 141 cases. Diagnostic findings informed reproductive decision-making in 25.09% of cases and altered fertility plans in 32.74%. Machine learning analysis further revealed that participation in a parent-offspring trio and a positive family history significantly increased diagnostic likelihood, while singleton recruitment and a negative history were associated with lower diagnostic success. This pilot program highlights the value of integrating genetic diagnostics with reproductive interventions, offering a replicable model for rare disease prevention and management.

Authors

  • Ge Lin
    National Engineering Research Center of Digital Life, Sun Yat-Sen University, Guangzhou, China.
  • Jun He
    Institute of Animal Nutrition, Sichuan Agricultural University, Key Laboratory for Animal Disease-Resistance Nutrition of China Ministry of Education, Key Laboratory of Animal Disease-resistant Nutrition and Feed of China Ministry of Agriculture and Rural Affairs, Key Laboratory of Animal Disease-resistant Nutrition of Sichuan Province, Ya'an, 625014, China.
  • Yuankun Wang
    School of Water Resources and Hydropower Engineering, North China Electric Power University, Beijing, PR China.
  • Xiangyan Liu
    Changsha Health Committee, Changsha 410006, China.
  • Juan Du
    Department of Hygiene Detection Center, School of Public Health, Southern Medical University (Guangdong Provincial Key Laboratory of Tropical Disease Research), Guangzhou, Guangdong, China.
  • Qianjun Zhang
    Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410008, Hunan, China; National Engineering and Research Center of Human Stem Cells, Changsha 410006, China; Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha 410008, China.
  • Shihao Zhou
    Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, 410007, China.
  • Lanping Hu
    Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, 410007, China.
  • Jing He
    School of Management, Guilin University of Aerospace Technology, Guilin, China.
  • Xiurong Li
    Faculty of Information Technology, Beijing University of Technology, Beijing, China.
  • Hao Hu
    Department of Geography and Geographic Information Science, University of Illinois at Urbana-Champaign, Urbana, IL, USA.
  • Liang Hu
    Digital Medical Research Center, Fudan University, Shanghai, China.
  • Changgao Zhong
    Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410008, Hunan, China; National Engineering and Research Center of Human Stem Cells, Changsha 410006, China; Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha 410008, China.
  • Wen-Bin He
    Shanxi Key Laboratory of Chinese Medicine Encephalopathy, Shanxi University of Chinese Medicine, Jinzhong, Shanxi, China.
  • Chan Peng
    Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, 410007, China.
  • Zhen Xu
  • Jingjing Zhang
    Department of Epidemiology and Medical Statistics School of Public Health, Guangdong Medical University, Dongguan, Guangdong, China.
  • Yan Shu
    College of Informatics, Huazhong Agricultural University, Wuhan 430070, China.
  • Xuan Song
    ICU, DongE Hospital Affiliated to Shandong First Medical University, Shandong, China.
  • Wenqian Zhang
    Department of Thoracic Surgery Beijing Chao-Yang Hospital Affiliated Capital Medical University Beijing China.
  • Guangxiu Lu
    Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410008, Hunan, China; National Engineering and Research Center of Human Stem Cells, Changsha 410006, China; Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha 410008, China.
  • Zhiming Ou
    Changsha Health Committee, Changsha 410006, China.
  • Yue-Qiu Tan
    Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410008, Hunan, China; National Engineering and Research Center of Human Stem Cells, Changsha 410006, China; Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha 410008, China. Electronic address: tanyueqiu@csu.edu.cn.
  • Jiyang Liu
    Changsha Health Committee, Changsha 410006, China. Electronic address: wudicao1219@163.com.

Keywords

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