How Should Preconceptional Cystic Fibrosis Carrier Screening Be Provided? Opinions of Potential Providers and the Target Population

Abstract

Background: Since the identification of the cystic fibrosis (CF) gene, large-scale CF carrier screening has become possible. One possible target group is couples planning a pregnancy (preconceptional screening), providing a maximum number of reproductive options and a minimum of time constraints. Objectives: To identify obstacles in the implementation of a preconceptional CF carrier screening programme, to find out how potential providers and the target population think the screening should be implemented, and to determine whether potential providers think they are able to provide the screening programme. Methods: A survey was conducted among 200 general practitioners (GPs), 134 Municipal Health Service (MHS) workers and 303 recently married couples. Results: 52% (102/197) of the eligible GPs participated, 84% (113/134) of the MHS workers and 70% (380/544) of the individuals planning a pregnancy. In general, potential providers and the target population had a positive attitude towards CF screening. Preferred methods of informing the target population were: in leaflets, during a GP consultation for those people seeking advice before pregnancy, and sending a personal invitation to all people of reproductive age. Potential providers believed that they would be able to provide the screening programme. Important perceived obstacles were the absence of a preconceptional care setting, high workload, and lack of financial resources. Conclusion: Different intervention strategies will be necessary to overcome the obstacles in the implementation. The positive attitude towards CF carrier screening in combination with the willingness of the potential providers to participate in the screening programme will make it easier to overcome the obstacles.

Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research

“…In the general population, 60-100% believed screening for CF carrier status should be made available, [10][11][12][13][14][15][16] and 80-96% felt it should be routinely offered. [17][18][19] However, some reservations were reported about the widespread offer of screening and its perceived systematic implementation by governments.…”

Carrier screening in preconception consultation in primary care

“…Attitudes about population CF carrier screening Overall, individuals with CF, their parents and other relatives are supportive of population CF carrier screening being made available (Watson et al 1991a;Myers et al 1994;Henneman et al 2001a;Poppelaars et al 2003a;McClaren et al 2008;Maxwell et al 2011) as are many members of the general public in studies in which screening was not offered: in the UK (Watson et al 1991a), Belgium (Decruyenaere et al 1992;Welkenhuysen et al 1996), USA (Botkin and Alemagno 1992;Myers et al 1994), Canada (Melancon and De Braekeleer 1996), the Netherlands (Poppelaars et al 2003a(Poppelaars et al , 2003bPoppelaars et al 2004a) and Australia (McClaren et al 2008). Nevertheless, barriers to implementing screening were often acknowledged, in particular, around the lack of prior awareness of CF and perceptions of relevance for those without a family history.…”

“…Nevertheless, barriers to implementing screening were often acknowledged, in particular, around the lack of prior awareness of CF and perceptions of relevance for those without a family history. Indeed, health practitioners, while still supportive, often had more mixed views, and there were concerns around potential for psychosocial harms as well as the feasibility of offering screening, especially in the preconception setting (Watson et al 1991a;Boulton et al 1996;Faden et al 1994;Mennie et al 1998;Poppelaars et al 2003aPoppelaars et al , 2003bPoppelaars et al 2004b;Baars et al 2004;McClaren et al 2008).…”

“It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare

“…Clearly, effort needs to be directed to raising community awareness about genetic screening which will assist in increasing familiarity and improving knowledge prior to the offer of screening. This could begin in high schools through facilitated discussions about genetic carrier screening and the associated risks and benefits, creating a basic framework for contemplating screening (Frumkin and Zlotogora 2008;Poppelaars et al 2003).…”

“…Research indicates that approaches in which the healthcare provider actively offers the test have the potential to be more effective than group educational sessions or passive approaches (Clayton et al 1996;Henneman et al 2003;Poppelaars et al 2003;Tambor et al 1994). However, concerns regarding the need for GP training and education, limited time and resources, and a potential selective approach to who is offered screening are significant.…”