评论:为什么基因测试在全球范围内没有得到充分利用? 遗传性乳腺癌的情况
Holly J Pederson1, Steven A Narod2
1Medical Breast, Cleveland Clinic, Cleveland, OH, USA. pedersh@ccf.org.
BJC reports
|November 8, 2024
概括
对BRCA1和BRCA2突变的基因测试未得到充分利用,导致许多突变载体未被识别. 主要障碍包括成本,保险问题以及患者和提供者之间的知识差距.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 公共卫生 公共卫生
背景情况:
- BRCA1和BRCA2基因的发现和基因测试已经有30多年了.
- 人们对遗传性癌症遗传学,预防和治疗的认识越来越大.
- 尽管取得了进展,但遗传性乳腺癌和卵巢癌的基因检测仍未得到充分利用,大多数突变载体尚未确定.
研究的目的:
- 探索以患者为中心的因素,阻止个人对遗传性癌症风险进行基因检测.
- 在北美和全球范围内识别基因测试普及的障碍.
- 讨论其他遗传医疗保健提供模式.
主要方法:
- 这是一个评论,探讨基因测试的潜在障碍.
- 它侧重于影响患者接受测试决定的因素.
- 它包括全球癌症遗传学领域的领导者对其国家障碍的观点.
主要成果:
- 遗传检测的不足利用归因于几个因素.
- 确定的障碍包括遗传咨询师不足,限制性资格标准,成本和保险问题.
- 患者和提供者的知识差距,隐私问题以及对保险歧视的恐惧也会阻碍测试.
结论:
- 多种系统和个体因素导致BRCA1/BRCA2遗传测试的不足利用.
- 解决这些障碍对于提高检测率和识别更多突变载体至关重要.
- 探索替代医疗保健提供模式可以改善对遗传性癌症风险的基因检测的获取和采用.
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