卡塔尔父母对遗传咨询和儿童先天性异常基因检测的知识和态度

IF 1.9 4区 医学 Q3 GENETICS & HEREDITY
Houda M. Alkilani, Karen El-Akouri, Abdulaziz Farooq, Zumin Shi, Mashael Al-Shafai, Mitchell Stotland, Houssein Khodjet-El-khil
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引用次数: 0

摘要

本研究旨在评估在卡塔尔儿童整形外科背景下父母对遗传咨询和测试的知识和态度。它评估了基础知识,以确定教育差距和可能导致对先天性异常儿童的治疗产生恐惧或不情愿的因素。2022年10月至2023年2月期间,到访Sidra医学儿科整形诊所的先天性异常儿童的家长参与了一份在线问卷调查。37个问题的调查涵盖了人口统计,知识,以及对遗传咨询和测试的态度,知识得分从1到12(得分高于9表示高知识)。调查收集了来自不同地区的160名家长的回复:亚洲(26.6%)、北非(25.3%)、中东(20.3%)、美洲/欧洲(5.7%)和卡塔尔(22.2%)。其中,22.9%的人报告有血缘关系,37%的人的孩子接受了基因检测。美国/欧洲父母(p = 0.016)和受过高等教育的父母(p = 0.006)对遗传知识的了解程度更高。卡塔尔父母的知识水平较高(45.7%),但感知收益较低,障碍较高。近亲父母(p = 0.003)和医疗服务提供者推荐的父母(p < 0.001)对基因检测持更积极的态度,而之前没有检测经验或没有另一个孩子患有遗传疾病的父母则表现出消极的态度。本研究强调需要对先天性异常儿童的父母进行文化上适当的遗传咨询和测试教育。遗传咨询师在讨论基因检测时应考虑教育水平和血缘关系,以使父母能够做出明智的决定。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Parental knowledge and attitudes toward genetic counseling and childhood genetic testing for congenital anomalies in Qatar

This study aims to evaluate parental knowledge and attitudes toward genetic counseling and testing in the context of pediatric plastic surgery in Qatar. It assesses baseline knowledge to identify educational gaps and factors that may contribute to fear or reluctance in managing children with congenital anomalies. Parents of children with congenital anomalies visiting the pediatric plastic surgery clinic at Sidra Medicine participated in an online questionnaire from October 2022 to February 2023. The 37-question survey covered demographics, knowledge, and attitudes toward genetic counseling and testing, with knowledge scores ranging from 1 to 12 (scores above 9 indicating high knowledge). Responses were collected from 160 parents, representing various regions: Asia (26.6%), North Africa 25.3%, the Middle East 20.3%, America/Europe 5.7%, and Qatar 22.2%. Among them, 22.9% reported consanguinity, and 37% had children who underwent genetic testing. American/European parents (p = 0.016) and those with higher education (p = 0.006) showed greater genetic knowledge. Qatari parents had high knowledge 45.7% but lower perceived benefits and higher barriers. Consanguineous parents (p = 0.003) and those referred by medical providers (p < 0.001) had more positive attitudes toward genetic testing, while those with no prior testing experience or without another child with a genetic disorder displayed negative attitudes. This study highlights the need for culturally appropriate education on genetic counseling and testing for parents of children with congenital anomalies. Genetic counselors should consider education levels and consanguinity when discussing genetic testing to empower parents in making informed decisions.

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来源期刊
Journal of Genetic Counseling
Journal of Genetic Counseling GENETICS & HEREDITY-
CiteScore
3.80
自引率
26.30%
发文量
113
审稿时长
6 months
期刊介绍: The Journal of Genetic Counseling (JOGC), published for the National Society of Genetic Counselors, is a timely, international forum addressing all aspects of the discipline and practice of genetic counseling. The journal focuses on the critical questions and problems that arise at the interface between rapidly advancing technological developments and the concerns of individuals and communities at genetic risk. The publication provides genetic counselors, other clinicians and health educators, laboratory geneticists, bioethicists, legal scholars, social scientists, and other researchers with a premier resource on genetic counseling topics in national, international, and cross-national contexts.
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