The views of general practitioners on community carrier screening for cystic fibrosis

Abstract

Background: 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.

Aim: 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.

Method: A self-administered questionnaires was sent to all 616 GPs in four areas of North Thames (West) Region.

Results: 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.

Conclusions: 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.