In an age of expanded genetic screening, fragile X syndrome is increasingly considered a candidate condition, given its prevalence, the absence of curative interventions, and its impact on families. However, relatively little research has explored the views of families and people living with fragile X syndrome toward population screening. This study reports on in‐depth interviews with 19 participants: 3 with people diagnosed with a fragile X condition (fragile X syndrome = 2, FXTAS = 1) and 16 people with fragile X syndrome in their family (11 parents, 2 grandparents, 1 spouse, 1 sibling, and 1 aunt) living in the UK. This study reveals the complexity of attitudes within this group and the existence of genuine ambivalence toward different population screening programs. While the overwhelming majority believed that preconception and newborn genetic screening should be made available to the general public, the notion of prenatal screening was far more controversial, with only five participants expressing support for such a program. Expressivist concerns were highlighted equally both by those who supported prenatal screening, as by also those who did not. Participants who supported prenatal screening drew clear distinctions between people with fragile X syndrome and the condition itself, in order to neutralize expressivist concerns and existential threat. However, for others, this division was challenging to maintain. Impairment effects associated with fragile X syndrome, more specifically, its implications for behavior, intellect, and personality, made it harder for some participants to conceptually separate the person from their condition. This study concludes that screening remains a complex issue for families living with genetic conditions and that expressivist concerns affect, and are managed by, families living with different types of disability in contrasting ways. Screening for conditions that affect personality, behavior, and intellect produces unique iterations of expressivism, identity, and stigmatization that families produce specific, and creative, strategies to navigate.

中文翻译：

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英国脆性 X 综合征患者对人口筛查的态度：“我不希望他离开，我只是希望他的脆性 X 综合征离开”

在扩大基因筛查的时代，脆性 X 综合征越来越多地被认为是一种候选疾病，因为它的流行、缺乏治疗性干预措施以及它对家庭的影响。然而，相对较少的研究探讨了脆性 X 综合征患者的家庭和患者对人口筛查的看法。本研究报告了对 19 名参与者的深入访谈：3 名被诊断患有脆性 X 疾病（脆性 X 综合征 = 2，FXTAS = 1）和 16 名家庭中患有脆性 X 综合征的人（11 名父母，2 名祖父母，1配偶、1 个兄弟姐妹和 1 个阿姨）居住在英国。这项研究揭示了该群体内部态度的复杂性以及对不同人群筛查计划存在真正的矛盾心理。虽然绝大多数人认为应该向公众提供孕前筛查和新生儿基因筛查，但产前筛查的概念更具争议性，只有五名参与者表示支持这样的项目。支持产前筛查的人和不支持产前筛查的人都同样强调了表现主义的担忧。支持产前筛查的参与者明确区分了脆性 X 综合征患者和疾病本身，以消除表达主义的担忧和存在的威胁。然而，对于其他人来说，这种划分很难维持。与脆性 X 综合征相关的损伤效应，更具体地说，它对行为、智力和人格的影响，使一些参与者更难在概念上将人与他们的状况区分开来。本研究得出的结论是，对于患有遗传疾病的家庭来说，筛查仍然是一个复杂的问题，表达主义的担忧以不同的方式影响着患有不同类型残疾的家庭，并由他们管理。筛选影响人格、行为和智力的条件会产生独特的表现主义、身份认同和污名化迭代，家庭会产生特定的、创造性的策略来导航。