Abe Shino, Noguchi Yoshihiro, Kitamura Ken
Department of Otolaryngology, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-ku, Tokyo 113-8519, Japan.
Auris Nasus Larynx. 2010 Aug;37(4):422-6. doi: 10.1016/j.anl.2009.12.007. Epub 2010 Feb 21.
We conducted an attitude survey for patients with hearing loss (HL). The aim of this study was to investigate the opinions of patients or parents of deaf children regarding the deafness gene, genetic testing and a gene related HL.
A questionnaire was sent to 201 individuals who visited the Department of Otolaryngology, Tokyo Medical and Dental University and who received genetic testing for HL from September 2000 to January 2006. There were 14 questions in the questionnaire that were classified into four topics related to a deafness gene and hereditary HL, genetic testing, outpatient department of medical genetics/genetic counseling, and the results of genetic testing. The study consisted of 140 respondents (70%) of 201 administered surveys.
Before visiting our department, only 36% of the respondents were aware that a genetic factor was a cause of HL. Despite our explanation of a deafness gene and hereditary HL, 23% of 134 respondents answered that they had not received any such explanation. Furthermore, 14% of the 103 respondents who had answered that they receive the explanation, however, they did not fully understand it. Thirty-nine percent of the respondents made their own decision regarding the genetic testing, whereas 53.5% received the tests upon the advice of a physician or family member. In contrast, 91% of the respondents had a positive attitude towards other future genetic tests. The existence of the genetic outpatient department or genetic counseling has been seldom acknowledged, but upon learning of its availability, nearly one third of the respondents indicated that they would like to receive genetic counseling. Although no respondent had social and/or family problems after being informed that they had a deafness gene mutation, some respondents worried about the result.
The results of the survey suggested that the vast majority of the respondents were satisfied with genetic testing for HL and that the barriers to take the genetic test were less than expected. However, some respondents have a negative attitude towards genetic testing and counseling. Furthermore, the issue of disclosure may be burdensome to patients.
我们针对听力损失（HL）患者开展了一项态度调查。本研究旨在调查聋儿患者或其家长对于耳聋基因、基因检测以及与基因相关的HL的看法。
向2000年9月至2006年1月期间到东京医科齿科大学耳鼻咽喉科就诊并接受HL基因检测的201名个体发放问卷。问卷中有14个问题，分为与耳聋基因和遗传性HL、基因检测、医学遗传学门诊/遗传咨询以及基因检测结果相关的四个主题。该研究包括201份调查问卷中的140名受访者（70%）。
在来我们科室就诊之前，只有36%的受访者知道遗传因素是HL的一个病因。尽管我们对耳聋基因和遗传性HL进行了解释，但134名受访者中有23%回答说他们没有得到过任何此类解释。此外，在103名回答说他们接受了解释的受访者中，有14%表示他们没有完全理解。39%的受访者自行决定是否进行基因检测，而53.5%是在医生或家庭成员的建议下接受检测的。相比之下，91%的受访者对未来的其他基因检测持积极态度。很少有人知道有遗传门诊或遗传咨询，但在得知其存在后，近三分之一的受访者表示他们愿意接受遗传咨询。虽然在被告知自己有耳聋基因突变后没有受访者出现社会和/或家庭问题，但一些受访者对检测结果感到担忧。
调查结果表明，绝大多数受访者对HL基因检测感到满意，并且进行基因检测的障碍比预期的要小。然而，一些受访者对基因检测和咨询持消极态度。此外，结果披露问题可能给患者带来负担。
