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

Abstract

Next-generation sequencing enabled us to create a population-based expanded carrier screening (ECS) test that simultaneously tests for 50 serious autosomal recessive diseases. Before offering this test universally, we wanted to know what factors are related to intended participation and how the general public can be informed about the test without being influenced in their intention to participate. We studied this by measuring to what extent 'message framing' and 'narrative information' can influence people's intended participation. Data were collected by means of an online survey of 504 potential users, and the factors examined were based on the Theory of Planned Behaviour and on previous research on intended participation in preconception carrier screening. Message framing was manipulated by explaining the risk of couple carriership in different ways, while narrative information was provided to only half of the respondents. The factors most positively related to intended participation were perceiving benefits of the screening, having a positive attitude towards the screening, having no religion, having an actual child wish and experiencing the choice to participate as easy. Perceived benefits and a positive attitude were most influential factors by far. Message framing and narrative information had no significant effect on intended participation, reinforcing that message framing and narrative information can help to inform the general public about ECS without influencing their intended participation. Future research should study if the importance of perceived benefits and a positive attitude can be replicated when other factors are included and when actual participation is measured instead of intended participation. European Journal of Human Genetics (2017) 25, 793-800; doi:10.1038/ejhg.2017.74; published online 3 May 2017 INTRODUCTION Approximately 1-2 in 100 couples are at risk of having a child affected with a recessive genetic condition. 1 Population based expanded carrier screening (ECS) makes it possible to test couples before pregnancy for relevant recessive genetic conditions simultaneously. The preconception period might be considered a better time than the prenatal period, because it results in more reproductive options being available and termination of pregnancy can be avoided. 2 Next-generation sequencing techniques enabled us to create such a population-based ECS test that simultaneously tests for 50 serious autosomal recessive diseases. 3 The composition of this panel was based on previous research, multidisciplinary discussions and stakeholder meetings. Screening results are couple-based, so only couples who are both carriers of the same disease get positive results. However, before this test can be offered in a public healthcare setting, we needed a better understanding of the factors driving intended participation and how the general public could be better informed-but not influenced -in their intention to participate. This information is important because it is clear from previous research a...

Assessment of willingness to pay for expanded carrier screening among women and couples undergoing preconception carrier screening

“…This is likely because people who have a higher extent of religiosity are less willing to pay, because they do not see the benefit of screening since for these people the test results typically do not impact reproductive choices. [ 13 , 39 , 40 ] Among the few studies that have evaluated the relationship between religiosity and WTP for genetic risk assessments, one report found that women who considered themselves religious were less likely to pay for invasive prenatal diagnostic testing, similar to our findings. [ 41 ] The relationship between religiosity and WTP for expanded carrier screening may be particularly important in pre-conception and prenatal care given that religious beliefs may play a role in decisions regarding reproductive decisions compared with other medical decisions.…”

Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple‐based approach and examination of couples' views

“…This study is part of a larger study on potential users' views and intentions towards couple‐based ECS and framing of information, for which participants from the general population were recruited online. The study design has been published elsewhere . Potential participants, women, and men of reproductive age (18‐40 years of age) with a different‐sex partner, were recruited online by a survey research sampling company (Survey Sampling International, SSI; http://www.surveysampling.com) in March 2014.…”

“…Potential participants were invited until we had 500 respondents who matched the abovementioned inclusion criteria and completed T0 and T1. The results of individual participants on T0 have been described in Plantinga et al and the effects of the framing of information between T0 and T1 in Voorwinden et al After completing T0 and T1, respondents were asked to (1) invite their partners to also participate in the study, (2) discuss couple‐based ECS with their partners, and (3) after discussion, fill in questionnaire T2. The partners were asked to fill in one questionnaire independent from the other member of the couple after discussing couple‐based ECS.…”

“…Changes in individual respondents' views after discussion with their partner were based on the comparison of T0 (before discussion) and T2 (after discussion). We chose to use T0 instead of T1, because T0 measures respondents' initial reaction and the study of Voorwinden et al showed that the manipulation between T0 and T1 did not affect respondents' scores.…”

Integrating stakeholder feedback in translational genomics research: an ethnographic analysis of a study protocol’s evolution

“…40 Additionally, studies suggest that framing research positively does not induce participation where an individual would not have otherwise wanted to enroll. 41 – 42 Future empirical studies should continue to examine any potential impact of positive framing on the voluntary nature of individuals’ decisions.…”