Preconceptional ancestry-based carrier couple screening for cystic fibrosis and haemoglobinopathies: what determines the intention to participate or not and actual participation?

Abstract

This paper explores determinants of the intention to participate or not and of actual participation in preconceptional ancestry-based carrier couple screening for cystic fibrosis (CF) and haemoglobinopathies (HbPs). In total, 9453 individuals from a multi-ethnic population were invited. Invitees who had a partner and who were planning a pregnancy were the target population (33 -36%). Test participation was conditional on survey participation. Those who refrained from test participation were asked to participate in the survey only. The questionnaire was based on the Theory of Planned Behaviour, which explains behaviour through intention. It was completed by 418 survey participants: 171 who intended to participate in the testing, and 247 who refrained from test participation. Both test intenders and offer decliners generally had a positive attitude towards test participation, and perceived high behavioural control. This applied to Western and non-Western survey participants equally. Offer decliners, however, perceived less control in terms of the time and effort needed for participation. Still, 68% of them intended to participate in the future if the screening would be offered routinely. Test intenders more often would draw reproductive consequences from test results, perceived a higher risk of being a carrier, more benefits and less adverse psychological outcomes. Feelings of stigmatisation were not an important issue, but 14% thought that there would be discrimination against carriers: among them more were non-Western survey participants. Preconceptional ancestry-based CF and HbPs carrier screening was evaluated as positive and desirable among Western and non-Western survey participants. The effort and time needed for participation were important reasons for declining participation, which might be overcome by improving access to the screening.

Carrier screening in preconception consultation in primary care

“…Uptake was higher in family planning clinics "because a higher proportion of those attending were young and had not yet had children and, therefore, perceived the test as particularly relevant to them" and the authors also felt that those who attended the clinics to see their doctor because they were unwell were less likely to participate (Watson et al 1991b). Similar trends of lower uptake following an offer by letter, rather than directly by a clinician/researcher, were also seen in other UK (Bekker et al 1993;Payne et al 1997), USA Clayton et al 1996), and the Netherlands (Henneman et al 2001b;Henneman et al 2003;Lakeman et al 2009) studies. In Australia, the passive (i.e., without pre-test discussion) opportunistic offer of testing at GP and family planning clinics resulted in 43.5% uptake of testing.…”

Expanded carrier screening: what determines intended participation and can this be influenced by message framing and narrative information?

“…These scales were based on previous research, where factors related to intended participation in PCS for cystic fibrosis were studied. 24 Perceived severity was measured with four items on a 5-point scale (4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). Respondents were asked how disturbing it would be to have a child with either severe pain, severe physical disability or severe intellectual disability, or who would die at a young age.…”

“…10 Only one study thus far has examined the influence of factors from the TPB on intended participation in PCS for two prevalent diseases, cystic fibrosis and haemoglobinopathies. 11 Having a positive attitude towards PCS, experiencing the choice to participate as easy and perceiving more influence of a partner's opinion towards participation were related to more intention to participate. 11 In our research we examine if these TPB factors are also related to intended participation in ECS.…”

“…11 Having a positive attitude towards PCS, experiencing the choice to participate as easy and perceiving more influence of a partner's opinion towards participation were related to more intention to participate. 11 In our research we examine if these TPB factors are also related to intended participation in ECS.…”

Commentary: a sociologist's view on community genetics

“…The notion of a "community-based program" is hence frowned upon (Bornik and Dowlatabadia 2008) and even when carrier screening is being recommended by American medical associations, as in the case of CF screening to Caucasian couples, US governmental bodies avoid using the term "program" in this context, so as to emphasize its voluntary, individual and "pan-ethnic" nature. In the Netherlands, initiatives of pre-conceptional carrier screening for CF and hemoglobinopathies are being promoted but usually without directly targeting particular ethnic communities (such as immigrants from Surinam and the Netherlands Antilles, or from Turkey and Morocco), even though members of such ethnic communities have a higher risk of being carriers (Lakeman et al 2008(Lakeman et al , 2009). Furthermore, many of the immigrant or indigenous ethnic communities that are at higher risk for recessive genetic diseases are also characterized by high frequencies of consanguinity; however, education and counseling aimed at such communities must be very sensitive regarding the political and gendered relations of power and authority that underpin patterns of consanguinity as well as the attempts to change them (Shaw 2000(Shaw , 2001Shaw and Hurst 2008a, b;Raz 2005).…”