Tutty Erin, McClaren Belinda J, Lewis Sharon, Barlow-Stewart Kristine, Boughtwood Tiffany, Caruana Jade, Halliday Jane L, Kirk Edwin P, Laing Nigel G, Massie John, Delatycki Martin B, Archibald Alison D
Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.
Genomics in Society, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Eur J Hum Genet. 2025 Jul 9. doi: 10.1038/s41431-025-01903-z.
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.
负责任地实施生殖基因携带者筛查（RGCS）需要了解检测结果对心理社会和生殖方面的长期影响。这项混合方法研究在“麦肯齐使命”项目中考察了这些影响，该项目是一项全澳大利亚范围的研究，为10000对育龄夫妇提供针对1280多个基因的基于夫妇的RGCS检测。对入组时和得知结果12个月后完成的参与者调查数据进行了分析。对检测结果显示患病几率增加的参与者进行了访谈。采用了以诠释性描述为指导的反思性主题分析方法。4948名参与者（回复率27%）完成了得知结果12个月后的调查。大多数人决策后悔程度极低（中位数≤5，0=无后悔，100=高度后悔）且生殖信心高。检测结果显示患病几率增加的参与者焦虑情绪加剧（n = 116，中位数为80分中的39分，临床上有意义的焦虑水平为≥40分）。受访者（N = 19，来自16对夫妇）感到他们检测结果显示患病几率增加“改变了一切”他们的生育计划。尽管修改生育计划是一段情感复杂的“旅程”，但参与者对所获得的信息“心怀感激”。“生殖故事”的概念被用来解读研究结果。生殖故事是指一个人对为人父母的预期叙述，如果被改变，可能会导致心理社会困扰。检测结果显示患病几率增加会扰乱生殖故事。到得知结果12个月时，大多数检测结果显示患病几率增加的人感到有能力修改他们的生殖故事，但焦虑情绪有所加剧。研究结果表明需要建立RGCS后心理社会支持的纵向模型。
