D'Souza G, McCann C L, Hedrick J, Fairley C, Nagel H L, Kushner J D, Kessel R
Department of Medical Genetics, University of Wisconsin, Madison 53706, USA.
Genet Test. 2000;4(3):257-63. doi: 10.1089/10906570050501470.
This paper presents the findings of a community-based carrier screening program for Tay-Sachs disease, initiated on the University of Wisconsin-Madison campus in 1978. The Madison Community Tay-Sachs Screening Program (MCTSSP) is a collaborative, interdisciplinary program that organizes and conducts periodic screening for Tay-Sachs disease (TSD) for the purpose of identifying Tay-Sachs carriers. We present and analyze data on carrier detection with regard to various demographics, including family history of TSD, ancestry, gender, medication exposure, and illness. Individuals participating in the MCTSSP between 1978 and 1999 were primarily of the target population, and the carrier rate was within the expected range (1/25). Despite aggressive publicity efforts and a well-established program, attendance at the screens has declined. A recent survey of Jewish undergraduate students at the University of Wisconsin-Madison showed poor recall of family screen history and carrier status and reinforced the perception that utilization of the Madison screening program has been low. Ways to increase awareness of and interest in carrier screening for TSD are explored.
本文介绍了一项于1978年在威斯康星大学麦迪逊分校启动的针对泰-萨克斯病的社区携带者筛查项目的研究结果。麦迪逊社区泰-萨克斯筛查项目（MCTSSP）是一个合作的跨学科项目，其组织并定期开展泰-萨克斯病（TSD）筛查，以识别泰-萨克斯携带者。我们展示并分析了关于携带者检测的各种人口统计学数据，包括TSD家族史、血统、性别、药物暴露和疾病情况。1978年至1999年参与MCTSSP的个体主要为目标人群，携带者率在预期范围内（1/25）。尽管进行了积极的宣传并建立了完善的项目，但筛查的参与率仍有所下降。最近对威斯康星大学麦迪逊分校犹太本科生的一项调查显示，他们对家族筛查历史和携带者状态的记忆很差，这进一步强化了人们对麦迪逊筛查项目利用率较低的看法。本文探讨了提高对TSD携带者筛查的认识和兴趣的方法。
