Understanding the patient experience: comparing carriers and non-carriers as identified by an expanded screening panel

BACKGROUND: Expanded carrier screening (ECS) is routinely offered to patients seeking fertility treatment. ECS provides an abundance of information for patients, which may inform reproductive decisions. However this volume of information may be perceived as causing anxiety, particularly for individuals identified as carriers. OBJECTIVE: Our aim was to assess the effect of ECS results on patients identified as carriers compared to non-carriers. MATERIALS & METHODS: Patients who underwent ECS were sent a survey 3 weeks after results were reported. Post-test genetic counseling (GC) was offered to all patients. Consenting participants were asked to report 1) with whom they discussed their results and 2) how often they felt a number of emotions post-test. Responses were compared between carriers and noncarriers. RESULTS: 420 patients completed the survey and were eligible for analysis. 178 were identified as carriers (42%). Post-test GC was received by 158 (89%) of carriers. When asked to report with whom they discussed results, carriers were significantly more likely to have discussed results with family members (p 1⁄4 0.0003). Among both carriers and non-carriers, most participants reported not discussing their results with a primary care provider/other medical professional. When reporting on emotions felt post-test, carriers felt anxious, nervous, and a loss of control significantly more often than non-carriers (p1⁄45.689e-05; Fisher p1⁄4 0.0005). While the difference here was significant, the overall frequency of feeling said emotions was low; the large majority of both carriers and non-carriers felt this way rarely/never. CONCLUSIONS: It is expected that carriers may feel anxiety regarding their results. However, even among carriers, the majority reported feeling these emotions rarely/never. This may be due to post-test GC. The benefit of ECS pairedwith GC extended to participants’ families, as carriers reported discussing results with their family members. Participants reported not discussing their results with other medical professionals. The clinical impact of this is important; despite discussing their results with a genetics professional, carriers may feel anxiety regarding how their carrier status affects other areas of their health. These emotions could be mitigated by the sharing of results with other healthcare providers. Future studies around facilitation of such discussions and the impact of post-test genetic counseling will be important, as will implementation of pre-test counseling for patients undergoing screening. FINANCIAL SUPPORT: Kumar, Yarnall, and Lee are employees of Recombine.