结肠直肠癌遗传转诊:我们做得足够多吗?
Whitnee C Broyles1, Priyanka Narvekar2, Hanjoo Lee3
1Department of Surgery, Baylor University Medical Center, Dallas, Texas, USA.
概括
对结直肠癌的基因检测指南的遵守率很低,许多符合条件的患者没有获得转诊. 这突出了诊断遗传性癌症综合征的关键差距.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 临床研究 临床研究
背景情况:
- 已发表的指导方针建议进行遗传咨询和结直肠癌 (CRC) 多基因小组测试.
- 由于临床实践中指导方针的认可不足,怀疑符合条件的患者未能接受遗传咨询.
研究的目的:
- 调查目前的基因转诊和结直肠癌患者检测指南的临床影响.
- 在现实临床环境中评估遵守已建立的基因测试转诊标准.
主要方法:
- 一个回顾性队列研究,利用来自单一学术机构的结直肠癌患者登记册.
- 纳入标准:年龄在18岁以上,在2018年1月至2020年1月期间被诊断患有结肠癌,直肠癌或多重症的患者,数据完整.
主要成果:
- 在92名符合条件的结肠癌患者中,只有56人 (61%) 和127名直肠癌患者中,只有11人 (8.7%) 接受了基因测试转诊.
- 在18名结肠癌患者和5名直肠癌患者中发现了可采取行动的变体.
- 年龄是结肠癌转诊率的重要因素 (P=0.02),但不是直肠癌 (P>0.05).
结论:
- 在结直肠癌护理中表现出对基于指导方针的基因检测协议的不良遵守.
- 强调需要改进和一致的转诊实践,用于基因测试诊断遗传性癌症综合征.
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