癌症诊断后的生殖基因检测
Allison W Kurian1,2, Paul Abrahamse3, Allison Furgal3,4
1Department of Medicine, School of Medicine, Stanford University, Stanford, California.
JAMA
|June 5, 2023
概括
建议对癌症患者进行生殖基因检测,但在2013年至2019年期间,只有6.8%的人接受了这种检测. 与非西班牙裔白人患者相比,亚裔,黑人和西班牙裔患者的检测率较低.
科学领域:
- 癌症学
- 遗传学
- 公共卫生
背景情况:
- 对于癌症患者来说,生殖基因检测至关重要,
- 实践指南建议对符合条件的癌症患者进行生殖基因检测.
研究的目的:
- 确定2013年至2019年的加利福尼亚州和格鲁吉亚州癌症患者的生殖基因检测的流行情况.
- 分析生殖基因检测的趋势和差异.
主要方法:
- 一项观察性研究将监测,流行病学和最终结果 (SEER) 注册表数据与遗传检测结果联系起来.
- 包括在2013年至2019年期间被诊断患有癌症的20岁以上的患者.
- 使用后勤回归分析测试趋势,检查基因变异和指导建议.
主要成果:
- 在1369602名癌症患者中,只有6.8%接受了生殖基因检测.
- 测试率因癌症类型而异,男性乳腺癌 (50%) 和卵巢癌 (38.6%) 的比例最高.
- 与亚洲 (22%),黑人 (25%) 和西班牙裔 (23%) 患者相比,非西班牙裔白人患者的检测率更高 (P < .001).
结论:
- 在加利福尼亚州和乔治亚州的癌症患者中, 基因检测的普及率仍然很低.
- 在生殖基因检测率上存在显著的种族和种族差异.
- 研究结果强调需要改善不同癌症患者基因检测的获取和认识.
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