Cejas Ivette, Coto Jennifer, Sarangoulis Christina M, Yunis Valerie, Blanton Susan, Liu Xue Zhong
Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA.
Department of Pediatrics, University of Miami Miller School of Medicine, Miami, Florida, USA.
J Genet Couns. 2025 Jun;34(3):e1986. doi: 10.1002/jgc4.1986. Epub 2024 Nov 5.
The purpose of the current study was to assess parent perceptions and experiences of genetic testing, as well as barriers for not undergoing testing in a sample of families of children with hearing loss. A 44-item questionnaire, The Parent Perception of Genetic Testing Questionnaire developed by the research study team was administered. Participants were recruited from a pediatric otolaryngology/audiology practice and social media. A total of 146 parents of children with hearing loss participated. Approximately 47.6% of the children in our sample underwent genetic testing, 44.8% did not, and 7.6% of parents were unsure. For those that did not undergo testing, reasons included: unaware (6.2%), not interested (8.9%), cost (8.9%), time (3.4%), fearful of results (2.7%), and never offered (15.1%). For those that did undergo testing, over half of the parents reported that they did not receive counseling before (55.1%) and 41.7% reported they received counseling after the testing. Furthermore, parents were confused about the results with 18.3% reporting they were Very Confused, 28.3% Somewhat Confused, 20% A Little Confused, and 33.3% Not Confused at All about the variant of uncertain or unknown significance. Notably, less than half of parents (43.4%) remembered what they were told about the mode of inheritance. Overall, our study highlighted the low adoption rate of genetic testing and lack of integration into standard of care for otology/audiology practices. Collaboration between hearing healthcare professionals and geneticists is warranted to determine how to reduce barriers to access while improving pre- and post-counseling.
本研究的目的是评估听力损失儿童家庭样本中父母对基因检测的看法和经历，以及未进行检测的障碍。研究团队编制了一份包含44个条目的问卷《父母对基因检测的看法问卷》并进行了发放。参与者从儿科耳鼻喉科/听力学诊所和社交媒体招募。共有146名听力损失儿童的父母参与。在我们的样本中，约47.6%的儿童接受了基因检测，44.8%未接受检测，7.6%的父母不确定。对于未进行检测的父母，原因包括：不知情（6.2%）、不感兴趣（8.9%）、费用（8.9%）、时间（3.4%）、害怕结果（2.7%）以及从未被提供检测机会（15.1%）。对于接受检测的父母，超过一半的父母报告说他们在检测前没有接受咨询（55.1%），41.7%的父母报告说他们在检测后接受了咨询。此外，父母对结果感到困惑，18.3%的父母报告说他们非常困惑，28.3%有些困惑，20%有点困惑，33.3%对意义不确定或未知的变异一点也不困惑。值得注意 的是，不到一半的父母（43.4%）记得被告知的遗传方式。总体而言，我们的研究强调了基因检测的低采用率以及在耳鼻喉科/听力学实践中未纳入标准护理。听力保健专业人员和遗传学家之间有必要开展合作，以确定如何减少获取检测的障碍，同时改善咨询前后的服务。
