INNOVATIVE APPROACH TO GENETIC-COUNSELING SERVICES FOR THE DEAF POPULATION
INNOVATIVE APPROACH TO GENETIC-COUNSELING SERVICES FOR THE DEAF POPULATION
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DOI：
10.1002/ajmg.1320440315
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发表时间：
1992-10-01
期刊：
影响因子：
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通讯作者：
MARAZITA, ML
中科院分区：
文献类型：
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作者：
ARNOS, KS;CUNNINGHAM, M;MARAZITA, ML
遗传服务提供者强调遗传咨询的重要性，遗传咨询是非指导性的并且针对咨询者的个人需求。聋人成功的遗传咨询通常需要针对复杂的家族史、综合症条件以及沟通方法和文化取向的多样性提供特殊规定。加劳德特大学遗传服务中心 (GSC) 成立于 1984 年，旨在为聋人社区提供遗传教育和咨询服务。 GSC 工作人员开发并实施了标准化的数据收集系统（家族史和病史）、顾问临床遗传学家的临床评估以及手语咨询。除了临床服务外，还为专业人士和消费者制定并实施了深入的教育计划。在 6 年期间，举办了 220 多次教育讲座，并为 659 名聋人进行了遗传评估和咨询。这些人大多数都是自我介绍的。手语是超过 90% 的人首选的交流方式。超过 50% 的聋人咨询者被诊断出耳聋的遗传原因，并通过隔离分析得到证实，该分析的结果与聋人学校学生的其他研究报告的结果相似。开发了特殊材料和策略，以便提供对聋人群体的文化和语言差异敏感的遗传服务。其中包括包含文化中立术语的书面和视觉材料以及对所有工作人员进行手语和聋人文化培训。
Genetic service providers have stressed the importance of genetic counseling that is non-directive and specific to the personal needs of consultands. Successful genetic counseling for deaf persons often requires special provisions for complex family histories, syndromic conditions, and diversity in communication methods and cultural orientation.The Gallaudet University Genetic Services Center (GSC) was established in 1984 to provide genetic education and counseling services to the deaf community. The GSC staff developed and implemented a standardized system of data collection (family and medical history), clinical evaluation by consultant clinical geneticists, and counseling in sign language. In addition to clinical services, an in-depth educational program for professionals and consumers was developed and carried out. During a 6-year period, over 220 educational presentations were made and 659 deaf persons were seen for genetic evaluation and counseling. Most of these persons were self-referred. Sign language was the preferred means of communication of more than 90% of these individuals. A genetic cause of deafness was diagnosed in over 50% of the deaf consultands and was confirmed by segregation analysis, which had results similar to those reported for other studies of students in schools for the deaf.Special materials and strategies were developed in order to provide genetic services that were sensitive to the cultural and linguistic differences of the deaf population. These included written and visual materials that contained culturally neutral terminology and training of all staff members in sign language and the culture of the deaf.