Psychosocial outcomes of reproductive genetic carrier screening up to five years post-result

Abstract The long-term psychosocial outcomes of reproductive genetic carrier screening (RGCS) have yet to be adequately quantified. We examined long-term psychosocial outcomes of RGCS within the Australian Reproductive Genetic Carrier Screening Project (‘Mackenzie’s Mission’), where 9107 reproductive couples had RGCS for ~1300 genes and 175 (1.9%) received a new increased chance result. We administered a survey at approximately three to five years (mean = 3.7) post-result, capturing attitudes toward the result, state anxiety (using the STAI-6) and decision regret for all participants, plus empowerment and decisional conflict for participants with an increased chance result. Using STAI-6 data from previous surveys, we used linear mixed models to examine change in state anxiety over time. Participants with a low chance result ( n = 2512) had low state anxiety, minimal decision regret and felt reassured by their result. For participants with an increased chance result ( n = 86), increased state anxiety after result disclosure gradually decreased, almost returning to baseline by 3–5 years post-result. This group also had high empowerment, minimal decision regret, low decisional conflict regarding reproductive choices and positive attitudes about the utility of their increased chance result. Predictors of clinically meaningful state anxiety at 3–5 years post-result were: having an increased chance result, higher trait anxiety and having a child with a medical condition/disability. Findings highlight that large-panel RGCS is valuable for reproductive planning. Elevated state anxiety after increased chance result disclosure aligns with other reproductive genetic screening and decreases over time. It is important that RGCS programmes provide appropriate, longitudinal psychosocial support to promote the reproductive empowerment of all who participate.