What women want: General population perspectives and access to preconception expanded carrier screening

Abstract

Objective Expanded carrier screening (ECS) assesses the risk of individuals and couples of having a child affected with a set of genetic conditions. Carriers have options available to optimize pregnancy outcomes based on personal values and preferences. The greatest range of options is available prior to pregnancy, therefore professional societies recommend this screening be performed preconception. This study aimed to assess awareness of, and interest in, ECS in women preconception. Additionally, it aimed to evaluate preferences for timing and location of education and availability of ECS. Methods A total of 260 nulliparous women from the general population were surveyed through Qualtrics, a national market research survey platform. Data were delineated using descriptive statistics. Results Of this cohort, 43.5% reported being aware of ECS prior to the survey and 77.8% indicated interest. Those previously aware were first informed by family, friends, or independent online research. Interest was primarily driven by a desire for reassurance and to make informed decisions about future pregnancies. Interested respondents indicated a willingness to request testing from providers. Participants showed a preference for education and access from a healthcare provider in person. Conclusion These findings provide insight regarding when and where to best educate and reach women prior to pregnancy about ECS to maximize pregnancy outcomes.

Addressing Reproductive Healthcare Disparities through Equitable Carrier Screening: Medical Racism and Genetic Discrimination in United States’ History Highlights the Needs for Change in Obstetrical Genetics Care

“…Decisions regarding whether and how to use information about genetic carrier status relies on individuals having access to obtaining this information. When ECS is offered during pregnancy, the uptake rate is around 50% and may be as high as 77% if offered before pregnancy [68][69][70]. Studies of at-risk carrier couples highlight that most (77%) used the information learned through ECS to make changes to their reproductive planning when they learned it prior to pregnancy; over a third pursued prenatal diagnosis when they learned the news during pregnancy [70].…”

Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive‐aged women in Flanders (Belgium)

“…In the American study by Rabkina et al. (2021), more than half of participants who stated to be favorable or undecided about RGCS rated the feeling of reassurance after a negative test result as a very important factor that would influence their motivation to pursue RGCS. Similarly, the relief that would be felt following negative test results was an important factor for participants in two Dutch studies (Plantinga et al., 2016; Schuurmans et al., 2020).…”

“…Similarly, the relief that would be felt following negative test results was an important factor for participants in two Dutch studies (Plantinga et al., 2016; Schuurmans et al., 2020). Different studies also assessed whether individuals would opt for RGCS: to spare the future child a life with a severe genetic condition (30%–53%) (van Dijke et al., 2021; Nijmeijer et al., 2019; Plantinga et al., 2016; Ragnar et al., 2016; Schuurmans et al., 2020), to prevent the birth of an affected child (6%–50%) (Cheng et al., 2020; van Dijke et al., 2021; Nijmeijer et al., 2019; Plantinga et al., 2016; Ragnar et al., 2016; Schuurmans et al., 2020), or to prepare for a child with a genetic condition (2%–33%) (van Dijke et al., 2021; Nijmeijer et al., 2019; Plantinga et al., 2016; Propst et al., 2018; Rabkina et al., 2021; Ragnar et al., 2016; Schuurmans et al., 2020). Some individuals (10%–27%) indicated that they viewed RGCS as an act of responsibility as a future parent (Plantinga et al., 2016; Ragnar et al., 2016; Schuurmans et al., 2020).…”

“…The most common reasons to decline RGCS that have been reported so far are a negative family history for genetic conditions (48%–78%) (Nijmeijer et al., 2019; Propst et al., 2018), a low perceived susceptibility (20%–60%) (Nijmeijer et al., 2019; Propst et al., 2018), and costs related to the screening test (11%–60%) (Cheng et al., 2020; Nijmeijer et al., 2019; Propst et al., 2018; Rabkina et al., 2021). Some individuals questioned the utility of RGCS as they would not act upon results (11%‐38%) (Nijmeijer et al., 2019; Ong et al., 2018; Plantinga et al., 2016; Propst et al., 2018; Rabkina et al., 2021; Schuurmans et al., 2020). A general lack of interest to find out genetic information (27%–32%) (Gilmore et al., 2017; Ong et al., 2018) or not wanting to know such information (3%–23%) (Cheng et al., 2020; Gilmore et al., 2017; Plantinga et al., 2016; Ragnar et al., 2016; Schuurmans et al., 2020) have also been raised as factors to decline RGCS.…”

Interest in Cancer Predisposition Testing and Carrier Screening Offered as Part of Routine Healthcare Among an Ethnically Diverse Sample of Young Women

“…In one survey of the general Dutch population, the primary motivation for receiving expanded carrier screening was to spare a child from a life with a severe hereditary disorder, while lack of a hereditary disorder in the family was identified as a reason to decline screening ( Nijmeijer et al, 2019 ). Another survey identified the desire for reassurance and making informed decisions about future pregnancies as drivers of interest in expanded carrier screening ( Rabkina et al, 2021 ). Interestingly, in one study, women who declined offers of preconception genomic carrier screening did so for logistical issues (e.g., time) rather than the rationale for testing ( Gilmore et al, 2017 ).…”