Boulton M, Cummings C, Williamson R
Academic Department of Public Health, St Mary's Hospital Medical School, London.
Br J Gen Pract. 1996 May;46(406):299-301.
Recent developments in molecular genetics have made it possible to identify carriers of the cystic fibrosis (CF) mutation, regardless of family history, before they have an affected child. Using these techniques, population or 'community' carrier screening can offer informed reproductive choice to individuals and couples who would not otherwise know of their risk of having a CF child.
This study set out to assess the views of general practitioners (GPs) on community carrier screening for CF and to consider the factors that influence their willingness to offer it themselves.
A self-administered questionnaires was sent to all 616 GPs in four areas of North Thames (West) Region.
Two-thirds of respondents indicated that identifying carrier couples to offer genetic counselling before conception was a very important benefit of community carrier screening. Two-thirds felt that general practice was the most appropriate place in which to offer it, and similar proportions that the most appropriate times to do so were when a close relative was diagnosed and when seeking family planning. About half wanted to offer community carrier screening themselves; this was related to experience with CF patients and CF carrier testing, and estimates of the numbers of CF carriers in the practice.
There is considerable support among GPs for community carrier screening for CF in general practice, particularly in the context of family planning services. Knowledge and experience of CF increase GPs' willingness to offer it themselves.
分子遗传学的最新进展使得在囊性纤维化(CF)突变携带者生育患病子女之前,无论其家族病史如何,都能够识别出他们。运用这些技术,群体或“社区”携带者筛查可为那些原本不知道自己有生育患CF病子女风险的个人和夫妇提供明智的生育选择。
本研究旨在评估全科医生(GPs)对CF社区携带者筛查的看法,并探讨影响他们自己提供该项筛查意愿的因素。
向泰晤士河北部(西部)地区四个区域的所有616名全科医生发放了一份自填式问卷。
三分之二的受访者表示,在受孕前识别携带者夫妇并提供遗传咨询是CF社区携带者筛查的一项非常重要的益处。三分之二的人认为全科医疗是提供该项筛查最合适的场所,类似比例的人认为最合适的时机是在近亲被诊断出患病时以及寻求计划生育服务时。约半数人希望自己能提供CF社区携带者筛查;这与他们对CF患者和CF携带者检测的经验,以及对所在医疗实践中CF携带者数量的估计有关。
全科医生普遍大力支持在全科医疗中开展CF社区携带者筛查,尤其是在计划生育服务的背景下。对CF的了解和经验会增加全科医生自己提供该项筛查的意愿。