Abstract
The responsible implementation of reproductive genetic carrier screening (RGCS) involves understanding the long-term psychosocial and reproductive impacts of results. This mixed-methods study examined these impacts within 'Mackenzie's Mission', an Australia-wide study that offered couple-based RGCS for >1280 genes to 10,000 reproductive couples. Data from participant surveys completed at enrolment and 12 months post-result were analysed. Participants with an increased chance result were interviewed. Reflexive thematic analysis, guided by Interpretive Description was used. 4948 participants (27% response) completed the 12 month post-result survey. Most had minimal decision regret (median ≤5, 0 = no regret, 100 = high regret) and high reproductive confidence. Participants found to have an increased chance result had elevated anxiety (n = 116, median = 39 out of 80, clinically meaningful is ≥40). Interviewees (N = 19, from 16 couples) felt their increased chance result "change[d] everything" about their reproductive plans. Although revising their reproductive plan was an emotionally complex "journey", participants were "grateful" for the information. The concept of the 'Reproductive Story', was used to interpret the results. A reproductive story refers to a person's expected narrative about parenthood that, if altered, can cause psychosocial distress. Receiving an increased chance result disrupts the reproductive story. By 12 months post-result, most people with an increased chance result felt empowered to revise their reproductive story, but anxiety was elevated. Findings suggest a need for longitudinal models of post-RGCS psychosocial support.