从ES获得二次发现的人的期望,需求和中期结果:法国第1次混合研究 (FIND研究)
Eléonore Viora-Dupont1,2, Françoise Robert3,4, Aline Chassagne5,6
1FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France. eleonore.viora-dupont@chu-dijon.fr.
European journal of human genetics : EJHG
|May 27, 2024
概括
患者希望从外基因组测序 (ES) 中获得二次发现 (SF),发现它们令人满意和可操作. 尽管存在潜在的心理影响,但参与者倾向于访问SF,强调需要管理协议.
科学领域:
- 遗传学 是一个遗传学.
- 医学伦理 医学伦理
- 患者体验 患者体验
背景情况:
- 从外体序列 (ES) 中的二次发现 (SF) 在诊断实践中提出了伦理和实际的挑战.
- 在全球范围内,特别是欧洲,关于SF的生成和可访问性存在争论.
研究的目的:
- 评估患者/家长对ES的SF期望.
- 为了记录现实生活中与SF交付的经验,测试后长达一年.
主要方法:
- 多中心混合方法研究涉及340名患有未诊断的发育障碍的患者接受ES.
- 定量 (N=340) 和定性 (N=26) 的数据收集.
- 报告三个可采取行动的SF组:晚期发病倾向,遗传咨询和药物基因组学.
主要成果:
- 参与者对收到SF表现出强烈的兴趣,并且在报告SF时表现出高度满意度.
- 科幻小说的医疗可行性赋予了父母权力,被认为是一种机会.
- 没有观察到严重的心理问题,但存在潜在的心理后果,特别是在罕见疾病家庭中晚期发作的SF.
结论:
- 参与者倾向于访问SF,尽管存在潜在的心理,护理和生活方式影响.
- 预测和管理这些影响是具有挑战性的.
- 如果国家政策允许SF报告,建议采用具有多学科支持的管理协议.
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