Lack of Male Expanded Carrier Screening Uptake: Contributing Factors Following Positive Result in Female Partners

Abstract

Expanded carrier screening (ECS) enables interested individuals to be screened for a large panel of recessive conditions, regardless of ethnic or ancestral background. Carrier status of both partners is relevant when considering these conditions, as a carrier couple would have a 25 percent chance of having an affected offspring. Despite the standard recommendation, many male partners do not complete screening after the female partner is found to be a carrier, limiting the opportunity to provide the most accurate risk assessment for the couple. This study aimed to survey couples in whom the male partner declined recommended follow-up ECS in an effort to characterize contributing factors to this decision. Female patients who elected ECS between 2015 to2019 were contacted by email to recruit male partners that declined screening to complete a survey. The study instrument asked participants to rank the influence of several factors during the decision-making process. Survey responses were accepted from male and female partners, with a response rate of 16.55%. Cost of testing was found to be the most influential factor for respondents with a non-white male partner, potentially highlighting financial barriers to accessing genetic testing. Male partners’ education level influenced perceived susceptibility for being a carrier of a genetic condition, with higher education levels associated with lower risk perceptions due to a lack of family history. Nulliparous and primigravida couples reported that opposition to termination of pregnancy was the most important factor when males declined ECS, indicating that pregnancy management would not have changed regardless of the male (v.3) partner’s results. Further research into patient financial assistance programs and risk perceptions before and after genetic counseling appointments is recommended.