Consumer motivations for pursuing genetic testing and their preferences for the provision of genetic services for hearing loss.
Consumer motivations for pursuing genetic testing and their preferences for the provision of genetic services for hearing loss.
复制标题
消费者进行基因检测的动机以及他们对提供听力损失基因服务的偏好。
DOI：
10.1007/s10897-007-9143-y
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发表时间：
2008
影响因子：
1.9
通讯作者：
Pandya,Arti
中科院分区：
文献类型：
--
作者：
Withrow,KaraA;Burton,Sarah;Arnos,KathleenS;Kalfoglou,Andrea;Pandya,Arti
由于早期听力检测和干预计划的引入，以及耳聋基因鉴定的快速进展，耳聋的遗传服务正在越来越多地寻求。本研究旨在评估消费者进行基因检测的动机以及他们对提供这些服务的偏好。我们进行了5个焦点小组，包括聋儿的听力父母、聋儿父母和未婚聋人成年人。进行基因检测的动机包括确定病因，帮助减轻与儿童听力损失诊断相关的内疚感，以及获取信息以帮助他们和其他家庭成员为未来做好准备。大多数与会者认为遗传咨询师/遗传学家将是提供遗传服务的最合适的专业人员。对于文化上失聪的人来说，沟通方式比专业人士的类型更重要。父母更倾向于在听力损失的听力诊断后立即或几个月进行基因评估，包括测试。
Genetic services for deafness are being increasingly sought due to the introduction of early hearing detection and intervention programs, as well as the rapid progress in the identification of deafness genes. This study aimed to assess the motivations of consumers for pursuing genetic testing as well as their preferences for provision of these services. We conducted 5 focus groups consisting of hearing parents of deaf children, deaf parents, and unmarried deaf adults. Motivations for pursuing genetic testing included determining the etiology, helping to alleviate the guilt associated with the diagnosis of hearing loss in a child, and acquiring information to help them and other family members prepare for the future. Most participants thought that a genetic counselor/geneticist would be the most appropriate professional to provide genetics services. For culturally Deaf individuals, the communication method was seen as more important than the type of professional. Parents preferred that genetic evaluation, including testing, occur either immediately at or a few months after the audiologic diagnosis of hearing loss.