在日本进行BRCA基因检测的障碍和动机
Katsuyuki Konnai1, Hiroyuki Fujiwara2, Eri Haneda3
1Department of Gynecology, Kanagawa Cancer Center, Yokohama, Kanagawa, Japan.
Journal of genetic counseling
|February 16, 2026
概括
在日本,BRCA遗传测试的保险覆盖率显著增加了吸收率. 成本是一个主要的障碍,激励因素包括手术规划和个人医疗保健决策.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 在瘤学瘤学.
- 医疗保健服务研究 医疗服务研究
背景情况:
- 2020年,日本对BRCA遗传测试的保险覆盖范围扩大.
- 接受或拒绝接受BRCA测试的原因以前尚不清楚,成本被确定为一个重要因素.
- 了解患者的障碍和动机对于优化基因测试准入至关重要.
研究的目的:
- 调查影响个人决定在日本接受BRCA基因检测的障碍和动机.
- 评估扩大保险覆盖范围对BRCA检测率的影响.
- 确定影响遗传咨询和测试的关键因素.
主要方法:
- 对2014年4月至2024年3月期间接受遗传咨询的1025人医疗和咨询记录的回顾性分析.
- 2020年保险覆盖范围扩大之前和之后的BRCA测试率的比较.
- 将患者分类为受试者或未受试者,并分析临床背景和决定的理由.
主要成果:
- 在保险后的保险覆盖期内,BRCA检测的显著增加 (376 vs. 109名患者,p < 0.001).
- 覆盖后,与成本相关的担忧明显下降;主要动机是手术技术的确定 (42.7%) 和个人医疗保健 (22.3%).
- 减少测试的主要原因包括与亲属讨论选择 (28%) 和优先考虑当前治疗 (14.3%). 血液相对测试率高 (91%).
结论:
- 扩大了保险覆盖范围,通过降低成本障碍,在日本显著提高了BRCA遗传检测率.
- 手术技术的确定和个人医疗保健需求是测试的主要动机.
- 解决非医学障碍和了解患者的动机对于改善对基因检测的准入至关重要.
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