The introduction of cystic fibrosis carrier screening into clinical practice: policy considerations.
The introduction of cystic fibrosis carrier screening into clinical practice: policy considerations.
复制标题
将囊性纤维化携带者筛查引入临床实践：政策考虑。
作者：
Benjamin S. Wilfond;Norman Fost
囊性纤维化(CF)的常规产前检查应该停止，直到检测率达到95%。需要进行试点研究，以评估满足教育、同意和咨询要求的可行性，以促进客户做出知情的生殖决定，并将混淆、污名和歧视的可能性降至最低。初级保健医生可能没有接受足够的培训来提供适当的信息，产前检查可能不是理想的设置。公众对携带者测试、产前测试和终止妊娠的兴趣是不确定的，因为CF患者的中位生存期、可变残疾和正常智力都在增加。即使目标是限制以知情生殖决策为目的的检测，在成为公共政策之前，也必须考虑到预防每个病例进行筛查的可观成本。在这些问题得到澄清之前，初级保健医生的职责是告知患者检测的可用性，并将感兴趣的患者转介给合格的遗传顾问，而不是自己提供检测。
Routine prenatal testing for cystic fibrosis (CF) should be halted until the detection rate reaches 95 percent. Pilot studies are needed in order to evaluate the feasibility of meeting education, consent, and counseling requirements in order to facilitate informed reproductive decisions by clients and to minimize the potential for confusion, stigmatization, and discrimination. Primary care physicians may not be trained adequately to provide appropriate information, and prenatal visits may not be an ideal setting. The public's interest in carrier testing, prenatal testing, and pregnancy termination is uncertain because CF patients have an increasing median survival, variable disability, and normal intelligence. Even with a goal that limits testing for the purpose of informed reproductive decision making, the considerable cost of screening per case prevented must be considered before it becomes public policy. Until these issues have been clarified, the duty of primary care physicians is to inform patients of the test's availability and to refer interested patients to qualified genetic counselors rather than to provide the test themselves.
登录
查看更多内容
影响因子：
--
作者：
L. Tsui;M. Buchwald
通讯作者：
L. Tsui;M. Buchwald
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
连锁不平衡、囊性纤维化和遗传咨询。
影响因子：
9.8
作者：
Beaudet,AL;Feldman,GL;Fernbach,SD;Buffone,GJ;O'Brien,WE
通讯作者：
O'Brien,WE
影响因子：
56.9
作者：
KEREM, BS;ROMMENS, JM;TSUI, LC
通讯作者：
TSUI, LC
囊性纤维化的携带者筛查：对妇产科实践的影响。
影响因子：
9.8
作者：
Elias,S;Annas,GJ;Simpson,JL
通讯作者：
Simpson,JL