Division of Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA, USA.
WellStar Health System, Atlanta, GA, USA.
J Genet Couns. 2021 Oct;30(5):1379-1387. doi: 10.1002/jgc4.1404. Epub 2021 Mar 18.
This study evaluated parental knowledge of genetics of sensorineural hearing loss (SNHL) and satisfaction following pre-test consult with and without genetic counseling (GC). A survey evaluating parents' knowledge of genetics for SNHL with and without GC was administered to parents of children with SNHL who were offered genetic testing. The survey also inquired about satisfaction, and decision to pursue genetic testing. Statistical tests included Fisher-Freeman-Halton test and Mann-Whitney test. Forty-nine participants completed the survey and were seen by both otolaryngology and GC intern (ENT + GC) (n = 24) or by otolaryngology (ENT) only (n = 25). Participation groups were not randomized. There were no significant differences in demographics between groups. Participants in the ENT + GC group had higher average genetics knowledge score of 72% correct (range 22%-100%), compared to the ENT only group with 44% (range 22%-78%) (p < .001). Participants in the ENT + GC group were more likely to know the different test result possibilities (p = .002), the most common form and pathogenic variant associated with SNHL (p < .001), that only a subset of genes are evaluated (p = .004), and that genetic testing may not explain SNHL etiology (p = .013), in comparison with the ENT only group. There was no significant difference in parental satisfaction or ultimate decision to undergo testing between groups. Obtaining genetic testing plays an integral role in the diagnosis and management of SNHL in the pediatric population. Our results suggest that the addition of GC increases parent knowledge of genetics and SNHL. This knowledge allows the family to make a more informed decision as to whether or not to pursue genetic testing.
本研究评估了父母对感音神经性听力损失（SNHL）遗传的了解程度，以及在进行测试前咨询时是否有遗传咨询（GC）的满意度。对接受 SNHL 遗传检测的儿童父母进行了一项评估父母对 SNHL 遗传知识的调查，包括有和没有 GC 的情况。该调查还询问了他们的满意度和进行遗传检测的决定。统计检验包括 Fisher-Freeman-Halton 检验和 Mann-Whitney 检验。49 名参与者完成了调查，他们由耳鼻喉科和遗传咨询实习生（ENT+GC）（n=24）或仅由耳鼻喉科医生（ENT）（n=25）共同诊治。参与组没有随机分配。两组在人口统计学方面没有显著差异。在 ENT+GC 组中，参与者的平均遗传学知识得分较高，为 72%正确（范围 22%-100%），而在 ENT 组中，平均得分为 44%（范围 22%-78%）（p<0.001）。与 ENT 组相比，ENT+GC 组的参与者更有可能知道不同的测试结果可能性（p=0.002）、与 SNHL 相关的最常见形式和致病性变异（p<0.001）、只有一部分基因被评估（p=0.004），以及遗传检测可能无法解释 SNHL 病因（p=0.013）。两组间的父母满意度或最终进行检测的决定无显著差异。获取遗传检测在儿科人群 SNHL 的诊断和管理中起着不可或缺的作用。我们的结果表明，GC 的增加提高了父母对遗传学和 SNHL 的了解。这种知识使家庭能够更明智地决定是否进行遗传检测。
