Attitudes of physicians and genetics professionals toward cystic fibrosis carrier screening.
Attitudes of physicians and genetics professionals toward cystic fibrosis carrier screening.
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医生和遗传学专家对囊性纤维化携带者筛查的态度。
DOI：
10.1002/ajmg.1320500102
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发表时间：
1994
期刊：
影响因子：
--
通讯作者：
N. Holtzman
中科院分区：
文献类型：
--
作者：
R. Faden;E. Tambor;Gary A. Chase;G. Geller;G. Geller;K. Hofman;N. Holtzman;N. Holtzman
随着1989年囊性纤维化（CF）基因及其主要突变的鉴定，卫生专业人员之间就是否应该建立基于人群的携带者检测进行了相当大的辩论。本文介绍了一项调查的结果，以确定医生和遗传学专业人士对CF载体检测的态度。与态度差异相关的因素也进行了研究。一份调查问卷被邮寄给10个州的初级保健医生和精神病医生，他们在1950年至1985年之间从医学院毕业。为了比较，同一州的医学遗传学家和遗传咨询师也收到了问卷。共有1,140名初级保健医生和精神科医生（64.8%）和280名医学遗传学家和遗传咨询师（79.1%）做出了回应。虽然92%的受访者认为，一对夫妇应该在询问检测80%的携带者后进行检测，但只有43.9%的受访者认为应该定期提供这种检测。那些最有可能参与遗传服务的专家最反对常规筛查。据报道，反对常规筛查的最重要原因是80%的检出率。当提出一个假设的“无错误”的测试，75.9%的受访者赞成常规测试。我们的研究结果表明，在本研究进行时，大多数参与提供遗传服务的医生和专业人员很少支持常规提供CF载体检测。
With the identification of the cystic fibrosis (CF) gene and its major mutations in 1989, there has been considerable debate among health professionals as to whether population-based carrier testing should be instituted. This paper presents the results of a survey to determine the attitudes of physicians and genetics professionals toward CF carrier testing. Factors associated with differences in attitudes also were examined. A questionnaire was mailed to primary care physicians and psychiatrists in 10 states who graduated from medical school between 1950 and 1985. For comparison, medical geneticists and genetic counselors in the same states also received the questionnaire. A total of 1,140 primary care physicians and psychiatrists (64.8%) and 280 medical geneticists and genetic counselors (79.1%) responded. Although 92% of respondents believed that a couple should be tested after asking about a test that detected 80% of carriers, only 43.9% of respondents believed such a test should be offered routinely. Those specialists most likely to have been involved in genetic services were most opposed to routine screening. The most important reason reported for opposition to routine screening was the consequences of an 80% detection rate. When presented with a hypothetical "error-free" test, 75.9% of respondents favored routine testing. Our findings suggest that there was little support for routinely offering the CF carrier test available at the time of this study among the physicians and professionals most involved in the provision of genetic services.
影响因子：
56.9
作者：
J. Riordan;J. Rommens;N. Alon;R. Rozmahel;Z. Grzelczak;J. Zieleński;N. Plavsic;Jia-Ling Chou
通讯作者：
J. Riordan;J. Rommens;N. Alon;R. Rozmahel;Z. Grzelczak;J. Zieleński;N. Plavsic;Jia-Ling Chou
影响因子：
56.9
作者：
KEREM, BS;ROMMENS, JM;TSUI, LC
通讯作者：
TSUI, LC