Genetic rare disease prevention and control: Family-based screening and reproductive interventions in Changsha

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 were 1,414 suspected 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.

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Publication Details

Journal
Human Genetics and Genomics Advances
Published
2025-08-18
DOI
https://doi.org/10.1016/j.xhgg.2025.100496
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
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article

Genetic rare disease prevention and control: Family-based screening and reproductive interventions in Changsha

Yue‐Qiu Tan, Lanping Hu, Zhuo-Cheng Ou, Jing He et al.
Human Genetics and Genomics Advances
BRCA gene mutations in cancer
article

Genetic rare disease prevention and control: Family-based screening and reproductive interventions in Changsha

Yue‐Qiu Tan, Lanping Hu, Zhuo-Cheng Ou, Jing He, Hao Hu, Changgao Zhong, Xiangyan Liu, Shihao Zhou, Xuan Song, Liang Hu, Xiurong Li, Peng Chan, J. He, Wenbin He, Jingjing Zhang, Zhi Xu, Wenqian Zhang, Guangxiu Lu, Lin Ge, Qianjun Zhang, Shu Yan, Juan Du, Yuankun Wang, J. Liu
article en

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 were 1,414 suspected 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.

Human Genetics and Genomics AdvancesVol. 6(4)
Hunan Normal University (CN), Changsha Hospital for Maternal and Child Health Care (CN)
Gender equality
Openalex Percentile: Top 77%
BRCA gene mutations in cancer
DOIOpen Access PDFOpenAlex
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