乳腺癌患者的级联测试:拉丁美洲当前情况和挑战
Rosa María Alvarez-Gómez1, Alexandra Garcilazo-Reyes2, Federico Avila-Moreno3,4
1Hereditary Cancer Clinic, Instituto Nacional de Cancerología, Mexico City, Mexico.
JCO global oncology
|September 29, 2025
概括
遗传性乳腺癌的级联测试在拉丁美洲由于访问和系统障碍而未得到充分利用. 地方倡议和政策支持对于扩大这一至关重要的癌症预防战略至关重要.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 公共卫生 公共卫生
背景情况:
- 乳腺癌是一个重大的全球健康挑战,在拉丁美洲 (LATAM) 的负担很高.
- 遗传风险评估和生殖系分子测试可以识别具有可操作基因病原体变异的个体.
- 级联检测,查有风险的亲属,是预防遗传性乳腺癌和早期检测的关键.
研究的目的:
- 审查拉丁美洲乳腺癌患者级联检测的现状.
- 确定阻碍该地区级测试实施的障碍.
- 探索在拉丁美洲扩大级联测试的机会.
主要方法:
- 本研究是对拉丁美洲级测试实施情况的综述.
- 它分析了其扩张的障碍和机会.
- 它考虑了人工智能和机器学习等新兴技术的作用.
主要成果:
- 尽管人们对遗传风险评估的认识增加,但拉美地区的级联测试采用情况有限.
- 主要障碍包括对遗传服务的限制,财务和基础设施限制以及社会文化因素.
- 成功的当地举措将遗传咨询纳入卫生系统,并教育医疗保健提供者,显示出可持续性的潜力.
结论:
- 在拉丁美洲整合级联测试需要当地驱动的战略,公共政策支持和医疗保健专业人员的承诺.
- 可持续的方法必须侧重于能力建设,公平获取和赋予提供者权力.
- 区域适应的模型可以改善遗传性癌症的预防,减少乳腺癌发病率和死亡率.
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