The American Society of Human Genetics statement on cystic fibrosis screening.
The American Society of Human Genetics statement on cystic fibrosis screening.
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美国人类遗传学协会关于囊性纤维化筛查的声明。
DOI：
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发表时间：
1990
影响因子：
9.8
通讯作者：
A. Beaudet
中科院分区：
文献类型：
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作者：
C. Caskey;M. Kaback;A. Beaudet
最近发现的与囊性纤维化（CF）相关的基因为这种常见疾病的新治疗提供了很大的希望。更直接的是，现在可以识别携带CF性状的健康个体。然而，目前的测试只能检测到70%的携带者，而且在向大量人群提供如此复杂的信息方面几乎没有经验。因此，有严重的保留意见，并没有共识之间的遗传学家广泛筛查CF载体在这个时候。然而，在一些问题上存在共识。首先，携带者检测应提供给夫妇，其中任何一方有一个近亲与CF影响。第二，一个或几个联邦，基金会，或私人支持的试点项目应尽快进行，以收集更多的数据，实验室，教育和咨询方面的筛选。第三，进行这些检测的实验室迫切需要集中质量控制。第四，在可预见的将来，一旦检测检测到更大比例的CF携带者，并且关于筛查过程的问题有更多的信息，开始大规模人群筛查将是合适的。在此之前，进行人口筛查被认为为时过早。最后，虽然人们认识到，测试的高度积极的个人在一般人群中可能会发生，这是美国人类遗传学会的立场，孕妇和其他个人的常规CF载体测试尚未在医疗实践中的护理标准。美国人类遗传学学会的一个工作组正在成立，以进一步探索这项令人兴奋的新技术所提出的问题。
The recent identification of the gene associated with cystic fibrosis (CF) offers great hope for new treatments for this common disease. Even more immediately, it is now possible to identify healthy individuals who carry the CF trait. However, the current test detects only 70% of carriers, and there is little experience in the delivery of such complex information to large populations. Accordingly, there are serious reservations, and there is no concensus among geneticists regarding widespread screening for CF carriers at this time. However, there is consensus on a number of issues. First, carrier testing should be offered to couples in which either partner has a close relative affected with CF. Second, one or a few federal, foundation, or privately supported pilot programs should be conducted as soon as possible in order to gather more data regarding laboratory, educational, and counseling aspects of screening. Third, there is an immediate need for centralized quality control of laboratories conducting these tests. Fourth, it will be appropriate to begin large-scale population screening in the foreseeable future, once the test detects a larger proportion of CF carriers and more information is available regarding the issues surrounding the screening process. Until that time, it is considered premature to undertake population screening. Finally, while it is recognized that testing of highly motivated individuals in the general population may occur, it is the position ofThe American Society of Human Genetics that routine CF carrier testing of pregnant women and other individuals is NOT yet the standard of care in medical practice. A working group of The American Society of Human Genetics is being formed to further explore the issues raised by this exciting new technology.