Palmer Christina G S, Boudreault Patrick, Baldwin Erin E, Sinsheimer Janet S
Department of Psychiatry & Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, United States of America; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, United States of America; Institute for Society and Genetics, University of California Los Angeles, Los Angeles, California, United States of America.
Department of Deaf Studies, California State University Northridge, Northridge, California, United States of America.
PLoS One. 2014 Nov 6;9(11):e111512. doi: 10.1371/journal.pone.0111512. eCollection 2014.
Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results.
本文采用前瞻性纵向研究设计，探讨耳聋基因咨询与检测对成年聋人及聋人社区的影响。本研究特别评估了基因咨询以及连接蛋白26和连接蛋白30基因检测结果对参与者聋人身份认同及其对基因检测结果理解的影响。在符合语言和文化要求的基因咨询背景下，为参与者提供连接蛋白26和连接蛋白30基因检测。分析了从209名成年聋人在四个时间点（基线、检测前基因咨询后立即、基因检测结果披露后1个月、结果披露后6个月）收集的问卷数据。使用修订后的聋人身份发展量表的子量表评估了四种聋人身份取向（听力、边缘、融入、双文化）。我们发现有证据表明参与者在接受基因咨询后理解了他们的特定基因检测结果，但没有发现基于基因咨询或其基因检测结果的聋人身份发生变化的证据。这项研究表明，符合文化和语言要求的基因咨询可以提高聋人客户对基因检测结果的理解，并且聋人身份的形成与基因咨询或连接蛋白26和连接蛋白30基因检测结果没有直接关系。
