将遗传性癌症的遗传风险信息返回给日本基于人口的队列研究的参与者
Kinuko Ohneda1,2, Yoichi Suzuki3,4, Yohei Hamanaka3,5
1Tohoku Medical Megabank Organization, Tohoku University, Sendai, Miyagi, Japan. kinuko.ohneda.a6@tohoku.ac.jp.
Journal of human genetics
|January 17, 2025
概括
在一项大型队列研究中,将遗传性癌症的遗传风险归还给100名参与者,改善了理解,特别是在年轻女性中. 这种遗传风险沟通有利于参与者,并为未来的临床和研究应用提供信息.
科学领域:
- 基因组学就是基因组学.
- 人口健康 人口健康
- 遗传流行病学遗传流行病学
背景情况:
- 收集基因组数据的大型人群队列研究面临的挑战是将遗传性癌症的遗传风险信息返还给参与者.
- 以前的研究集中在遗传风险的回归上,但对参与者对癌症风险的理解,情绪和行为缺乏全面的调查.
研究的目的:
- 在接受遗传风险信息后,调查参与者对遗传性癌症风险的理解,感受和行为.
- 报告通过全基因组测序识别的致病变体携带者返回遗传风险的经验.
主要方法:
- 来自东北医疗大银行项目的5万个人的全基因组测序.
- 对100名致病变体携带者 (遗传性乳腺癌和卵巢癌或林奇综合征) 提供有关癌症风险,遗传性和临床可行的信息.
- 评估参与者的理解能力,癌症担忧和心理困扰,并在大学医院进行后续检查.
主要成果:
- 较年轻的 (60岁以下) 女性比较年长的男性更好地理解信息.
- 癌症担忧得分与个人癌症病史和一般心理痛苦有积极的相关性.
- 六名女性接受了降低风险的手术,三名女性在随访期间被诊断出患有癌症. 在一级亲属中,最常与女儿分享信息.
结论:
- 将遗传风险归还给普通人群显示出显著的好处.
- 这些发现为在临床和研究环境中返回对无症状致病变体携带者的遗传风险提供了宝贵的见解.
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