Client experience and use of expanded carrier screening results as part of the semen donor selection process

Abstract

Traditional practices of ethnicity-based carrier testing are being supplanted by large pan-ethnic carrier screening (ECS) panels in the pre-conception setting. ECS results are increasingly available on gamete donors, and vials from semen donors with positive carrier screening results are made available for use. This study evaluated if and how semen donor recipients are using their results and/or the donors’ results as part of their donor selection process. Descriptive Survey. An ECS panel of over 260 diseases was performed on applicants to California Cryobank’s semen donor program during the donor screening process. Donors who screened positive for mutations in the ATM, CFTR, FH, NBN, and SMN1 genes were excluded from participating in the program; donors identified as carriers for one or more other conditions inherited in an autosomal recessive manner were retained. Vials from ∼123 semen donors who had ECS were made available for use from 5/17-04/18, of these donors, 71 had positive results. Vials from ∼500 other donors who had ethnic-based carrier screening, with negative results, were also available during this time frame. A survey was emailed to all clients who ordered semen specimens from 10/5/17-4/5/18. Responses were received from 1138 clients. Clients who had ECS on themselves were more likely to order vials from a donor who had also had ECS (49.4% vs. 29.53%; p<.01), and were more likely to choose a donor with positive results (67.15% vs. 37.19%; p<.01), compared to clients who did not have ECS on themselves. Clients who had positive ECS results were more likely to discuss the donors’ genetic test results (64.89% vs. 39.08%) and donors’ family medical history (33.33% vs. 24.14%) with their physician prior to purchasing vials, compared to clients who had negative ECS results. Clients who had positive results on smaller panels were also more likely to discuss the donors’ genetic test results (50% vs. 32.54%) and the donors’ family medical history (33.33% vs. 19.20%) with their physician prior to purchasing vials, compared to clients who had negative results on smaller panels. Over one third (475/1,138) of respondents reported that they had not had screening; a small percentage used donors with positive ECS results (31/175; 6.5%). Sixty percent of those clients (18/30) reported that they did not discuss the donors’ genetic test results with their physician and 76.67% (23/30) did not discuss the donors’ family medical history. Clients’ personal genetic testing experiences appear to influence their decisions when selecting a donor. This is likely attributable to education that they received as part of their consenting process or upon receipt of their results. The study indicates that additional education may be needed for clients have not had screening on themselves so that they can make informed decisions when selecting donors because there is likely to be an increased number of donors screened by this methodology in the future.