在引入公共资助的基因测试计划后,BRCA1和BRCA2测试的使用趋势
Fahima Dossa1, Nancy N Baxter2,3,4,5, Rinku Sutradhar3,4,6
1Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Current oncology (Toronto, Ont.)
|August 27, 2025
概括
随着时间的推移,公开资助的BRCA1/BRCA2突变基因测试增加了. 然而,该计划发现未受影响的女性较少,这表明需要改善高风险个体的早期检测以减少癌症风险.
科学领域:
- 遗传学和基因组学
- 癌症研究
- 公共卫生
背景情况:
- 有效减少癌症负担需要识别高风险个体进行预防策略.
- BRCA1和BRCA2基因突变显著增加了遗传性乳腺癌和卵巢癌的风险.
- 公共资助的基因检测计划旨在促进早期识别和干预.
研究的目的:
- 在加拿大安大略省实施一项公共资助计划后,评估BRCA1/BRCA2基因测试利用趋势.
- 评估该计划是否有效地识别癌症诊断前的高风险个体,以减少风险.
主要方法:
- 在2007年至2016年期间接受BRCA1/BRCA2检测的15986名妇女的回顾性,近乎基于人口的研究.
- 分析测试利用的时间趋势,测试时的年龄和测试时的癌症史.
- 使用线性回归和Poisson回归模型来评估随时间推移的趋势.
主要成果:
- 从2007年到2016年,BRCA1/BRCA2测试的年度使用量显著增加 (p < 0.001).
- 接受测试的女性的平均年龄从49. 9年增加到53. 8年 (p < 0. 001).
- 在测试时,有癌症病史的女性比例增加了 (53.5%至66.3%),而未受影响的女性比例没有显著变化 (49.2%至45.1%).
- 在研究期间,乳腺癌诊断后3个月内进行的检测显著增加.
结论:
- 公共资助的基因测试计划导致BRCA1/BRCA2测试的使用量增加.
- 然而,该计划的局限性包括测试年龄的增加和未受影响女性的测试比例的下降.
- 这些发现表明识别高风险,不受影响的个人符合主动癌症风险降低策略的挑战.
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