{"title":"Attitudes of medical professionals toward fragile X carrier screening and genetic counseling in China.","authors":"Yingbao Zhu, Jia Li, Yi Pan, Wen Huang, Hui Xi, Ranhui Duan","doi":"10.1007/s12687-024-00696-w","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"177-185"},"PeriodicalIF":1.5000,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11031535/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Community Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12687-024-00696-w","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/26 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
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.
脆性 X 综合征是最常见的遗传性智力障碍。考虑到中国的低患病率、独特的医疗体系、中等收入的经济地位和独特的文化,中国不能简单地照搬欧美国家的筛查系统。本研究调查了 450 名接受过脆性 X 培训的中国医务人员对脆性 X 携带者筛查和遗传咨询的态度。培训前,57.6%的受访者对 FXS 不熟悉。培训后,7.3%的受访者无法完全掌握相关知识。此外,71.8% 的受访者认为,育龄期不出现表型以及有简单可行的检测方法是筛查的先决条件。如果存在表型,则仍需进行筛查。关于目标人群,90% 以上的参与者支持对高危孕妇进行脆性 X 携带者筛查。至于影响因素,她们认为费用是影响孕妇决定是否接受筛查的最大因素。筛查的可接受价格范围被确定为 200-1000 日元(30-150 美元)。在筛查的问题和挑战方面,大多数医疗专业人员支持需要对中间等位基因和 55-60 重复预突变结果进行遗传咨询。此外,一些受访者认为有必要将阳性筛查结果告知患者家属。人们也认识到,阳性结果可能会导致患者焦虑。本研究的结果将为建立脆性 X 携带者筛查系统提供有价值的信息,尤其是在低患病率国家或中等收入国家。
期刊介绍:
The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals.
Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues.
The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries.
The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.