Abstract
Fragile X syndrome is the most common inherited cause of intellectual disability. Considering China’s low prevalence, distinct healthcare system, middle-income economic status, and unique culture, China cannot simply replicate the screening systems in European and American countries. In this study, we investigated the attitudes of 450 Chinese medical professionals who received fragile X training on fragile X carrier screening and genetic counseling. Before the training, 57.6% of the respondents were unfamiliar with FXS. After the training, 7.3% of participants are unable to fully master the knowledge. Furthermore, 71.8% believe that the absence of phenotypes during the reproductive age and the availability of simple and feasible testing methods are prerequisites for screening. The presence of the phenotype would still require screening. Regarding the target population, over 90% of the participants support fragile X carrier screening in high-risk pregnant women. As for influencing factors, they consider cost as the most influential factor in pregnant women’s decision to undergo screening. The acceptable price range for screening is determined to be ￥200–1000 ($30–150). In terms of the issues and challenges of screening, most medical professionals support the need for genetic counseling for intermediate alleles and 55–60 repeat premutation results. Additionally, some respondents believe that informing patients’ family members of positive screening results is necessary. It is also recognized that positive results may lead to anxiety for patients. The findings of this study will provide valuable information for the establishment of fragile X carrier screening system, particularly for low-prevalence or middle-income countries.
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The data that supports the findings of this study are available upon request from the corresponding author.
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Acknowledgements
We thank Prof. Lingqian Wu in the Center for Medical Genetics of Central South University and Prof. Hua Wang of Women and Child Health Hospital in Hunan for their suggestion and advice in the manuscript.
Funding
The funding for this project was provided by the grant of the National Natural Science Foundation of China (grant no. 82071273, 82271906) and Hunan Science and Technology major project of Birth Defect cooperative control (grant no. 2019SK1010).
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Zhu and Li contributed equally to this research. Both authors were involved with the study design, data collection, data analysis, data interpretation, writing and revising manuscript drafts, and approving the final manuscript. Pan analyzed and interpreted the interview data. Huang actively participated in writing the results and discussion sections. Xi conducted interviews with medical professionals throughout the research process, gathering their attitudes and perspectives on Fragile X screening and genetic counseling. Duan provided essential background information and conducted a comprehensive literature review. All of the authors gave final approval of this version to be published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000(5). Informed consent was obtained from all participants for being included in the study.
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Yingbao Zhu and Jia Li should be considered joint first author.
Ranhui Duan and Hui Xi should be considered joint corresponding author.
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Zhu, Y., Li, J., Pan, Y. et al. Attitudes of medical professionals toward fragile X carrier screening and genetic counseling in China. J Community Genet 15, 177–185 (2024). https://doi.org/10.1007/s12687-024-00696-w
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DOI: https://doi.org/10.1007/s12687-024-00696-w