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父亲和母亲在快速基因组测序后的支持需求和支持经验

Helen Dolling^1,2,3, Sophie Rowitch⁴, Malachy Bromham⁴

¹Centre for Child, Adolescent, and Family Research, University of Cambridge, Cambridge, UK. hd300@cam.ac.uk.

European journal of human genetics : EJHG

|December 1, 2025

概括

患有严重疾病的儿童的父母在快速基因组测序 (rGS) 后需要持续支持. 许多家庭遇到未满足的需求,影响整体福祉.

科学领域:

基因组医学是基因组医学.
儿科健康儿科健康
家庭支持服务家庭支持服务

背景情况:

快速基因组测序 (rGS) 在儿科医学中越来越多地用于严重的早期疾病.
了解rGS后的家庭支持需求对于有效的护理至关重要.
现有的研究往往侧重于即时的结果,而不是长期的家庭影响.

研究的目的:

检查父母的长期经验和支持需求,他们的孩子接受了三次RGS.
为了评估父母的福祉,生活满意度和家庭影响,一到五年后rGS.
确定这些家庭的正式和非正式支持系统中的差距.

主要方法:

混合方法研究 (Peregrin*) 涉及96名父母1-5年后的trio rGS.
量化指标:父母的福祉,生活满意度,家庭影响 (与人口规范相比,母亲与父亲,诊断结果).
定性半结构面试:对支持的满意度,网络参与,未满足的需求.

主要成果:

母亲报告的焦虑和抑郁程度高于人口标准;夫妇内幸福度指标显示的相关性较弱.
基因组诊断的孩子的父母的健康状况较差,这与医疗复杂性有关.
有基因组诊断的家庭中有36%的家庭报告没有足够的支持,而没有基因组诊断的家庭只有6%;父亲的支持频率较低.

结论:

经历严重童年状况和rGS的家庭面临着持续的,不断变化的支持需求.
父母的支持需求是个人的,随着时间的推移和孩子的健康轨迹而变化.
在确定父母的需求和可用的支持之间存在显著的差距,影响了家庭的福祉.

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