关于生殖线BRCA致病变体的风险降低决策:专注于基因测试的时间和RRSO
Akiko Abe1, Hidetaka Nomura2, Atsushi Fusegi2
1Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan akiko.abe@jfcr.or.jp.
Journal of medical genetics
|December 20, 2023
概括
日本的公共保险现在涵盖了遗传性乳腺和卵巢癌 (HBOC) 基因检测和降低风险的卵管切除术 (RRSO). 这导致了RRSO手术的显著增加,特别是在乳腺癌患者身上,尽管家庭成员的诊断仍然令人担忧.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 公共卫生政策 公共卫生政策
背景情况:
- 日本在2020年修订了其公共保险政策,包括遗传性乳腺和卵巢癌 (HBOC) 遗传检测和乳腺癌 (BC) 患者的监测.
- 这一政策变化随后增加了降低风险的卵管切除术 (RRSO) 的需求.
研究的目的:
- 分析HBOC的公共保险覆盖对日本遗传检测和RRSO的需求和时间的影响.
- 为了确定在保险政策修订后使用遗传服务的变化.
主要方法:
- 对350名患有生殖系BRCA (gBRCA) 致病变体 (PVs) 的女性进行了回顾性分析.
- 在保险前和保险后的保险组之间比较医疗检查和预防性治疗使用情况.
- 使用曼·惠特尼大学和费舍尔的精确测试进行统计分析.
主要成果:
- 在保险覆盖实施后,gBRCA PVs患者的RRSO率从31.4%翻了一番,达到62.6%.
- 在BC受影响的患者中,RRSO的实施率高于BC受影响的患者 (70.3%),而不是受影响的携带者 (32.4%).
- 年轻患者在BC诊断,基因检测和RRSO之间间隔显著缩短.
结论:
- 对HBOC的保险覆盖在日本显著增加了RRSO频率.
- 试验者的家庭成员的诊断率仍然不足,这表明遗传服务利用率存在差距.
- 不同社会经济群体在获取遗传服务方面的不平等需要进一步关注.
关键词:
女性健康服务 妇女健康服务更多相关视频
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