Benefits, limitations, and impacts of reproductive carrier screening and telehealth‐based genetic counseling for individuals with an increased chance to have a child with a genetic condition

JScreen offers reproductive carrier screening and follow-up genetic counseling via telehealth to individuals and couples who wish to know whether they have an increased reproductive chance (IRC) of having a child with a genetic condition. Reproductive carrier screening (RCS) is clinically useful, but it may elicit powerful emotions and concerns about follow-up options for individuals and couples if they are found to have an IRC. The purpose of this cross-sectional study was to explore how JScreen patients found to have an IRC were impacted by the knowledge gained in the process of screening and disclosure of results through telehealth genetic counseling. One thousand seventy-five (1075) eligible individuals were sent a survey with questions about information utilization, anxiety about results, reproductive decision-making, and satisfaction with the telehealth genetic counseling services provided by JScreen. Two-hundred ninety (290) responses were collected and analyzed, representing one of the largest sample sizes on this topic. We found that participants used the information provided by their genetic counselor at the results disclosure session in various ways, including recommending carrier screening to others and seeking additional information and clinical support. Participants were highly satisfied with their telehealth genetic counseling experience and found the amount and quality of information provided to be helpful. We found that 54.1% of couples with an IRC considered an alternative reproductive plan (ARP) for future pregnancies. Participant perceptions of disease severity and likelihood of having an affected child were positively associated with considering and pursuing an ARP. This study demonstrates the many ways patients use the information provided by carrier screening and suggests that patients may benefit from additional educational resources and support. It also provides evidence of patients' high level of satisfaction with telehealth genetic counseling in RCS and the impact of RCS on reproductive decision-making.