Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

Abstract

Technological developments have enabled carrier screening for multiple disorders. This study evaluated experiences with a preconception carrier screening offer for four recessive disorders in a Dutch founder population. Questionnaires were completed by 182 attendees pretesting and posttesting and by 137 non-attendees. Semistructured interviews were conducted with seven of the eight carrier couples. Attendees were mainly informed about the existence of screening by friends/colleagues (49%) and family members (44%). Familiarity with the genetic disorders was high. Knowledge after counseling increased (p < 0.001); however, still 9%, compared to 29% before counseling, wrongly mentioned an increased risk of having an affected child if both parents are carriers of different disorders. Most attendees (97%) recalled their test results correctly, but two couples reported being carrier of another disorder than reported. Overall, 63% felt worried while waiting for results but anxiety levels returned to normal afterwards. In all, 2/39 (5%) carriers felt less healthy. Screened individuals were very satisfied; they did not regret testing (97%) and would recommend testing to others (97%). The majority (94%) stated that couples should always have a pretest consultation, preferably by a genetic counselor rather than their general practitioner (83%). All carrier couples made reproductive decisions based on their results. Main reason for non-attendance was unawareness of the screening offer. With expanded carrier screening, adequately informing couples pretest and posttesting is of foremost importance. Close influencers (family/friends) can be used to raise awareness of a screening offer. Our findings provide lessons for the implementation of expanded carrier screening panels in other communities and other settings.

How does carrier status for recessive disorders influence reproductive decisions? A systematic review of the literature

“…The systematic literature search process is summarized in Figure 1 below. In total, the systematic search identified 17 distinct studies reported in 19 peer-reviewed publications describing reproductive choices of couples and females (in X-linked recessive disorders) at risk of having affected children [18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36]. The main characteristics of these studies are summarized in Table 1.…”

“…Consequently, most studies can be described as either ethnicity-specific or population-based, focused on single disorders such as cystic fibrosis (CF) or a handful of disorders relatively common in a certain population (e.g. [35]).…”

Expanded universal carrier screening and its implementation within a publicly funded healthcare service

“…General themes of underestimating risk and a need for more education were common themes (Plantinga et al 2016;Beard et al 2016;Ekstrand Ragnar et al 2016;Fu et al 2016;McClaren et al 2008). There were higher levels of uncertainty when multiple conditions were included (Plantinga et al 2016;Mathijssen et al 2018), or when no condition-specific information was given (Ekstrand Ragnar et al 2016). Many felt screening for multiple conditions was convenient (Beard et al 2016) but, unsurprisingly, knowledge decreased (Ioannou et al 2010).…”

“…Carrier couples reported the result would definitely affect their reproductive decision-making (Mathijssen et al 2018). Opinions were overwhelmingly in favour of testing in the preconception…”

The evolving role of genetic tests in reproductive medicine

“…In fact, preconception carrier screening provides genetic information for multiple disorders; thus, all carrier couples can make reproductive decisions based on their results. The tailored genetic test is a crucial tool to improve short-term and long-term outcomes for mothers and their babies [130, 131].…”