改善在遗传性癌症综合征中的级联测试实施的策略:系统性审查
Jianbang Chiang1,2, Ziyang Chua1, Jia Ying Chan3
1Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, 169610, Singapore.
NPJ genomic medicine
|April 3, 2024
概括
干预措施成功地提高了遗传性癌症检测率,但描述和结果评估往往很差. 为了更广泛地采用级联测试策略,需要标准化的报告和结果评估.
科学领域:
- 遗传学和基因组学 在
- 公共卫生 公共卫生
- 癌症研究 癌症研究
背景情况:
- 遗传性癌症综合征约占所有癌症的10%.
- 级联测试旨在识别携带家族致病变体的有风险的亲属.
- 目前级联测试的采用率仍然很低,通常低于30%.
研究的目的:
- 系统地审查干预措施,以提高级联测试的普及率.
- 评估干预描述的质量.
- 评估这些干预措施的实施成果.
主要方法:
- 使用"级联测试"关键词进行了系统的文献审查.
- 使用EPOC分类学分类的分类干预.
- 通过TIDieR检查清单评估干预描述质量,通过Proctor的框架评估实施结果.
主要成果:
- 跨EPOC战略的干预措施显示,基因测试普及率有所改善.
- 交付安排干预实现了最高的吸收率 (68%).
- 干预描述 (TIDieR平均得分7.3/12) 和实施结果评估 (2.9/8方面) 都没有达到最佳水平.
结论:
- 大多数干预措施有效地增加了连锁测试的普及率.
- 报告质量不佳阻碍了干预的复制和实施.
- 标准化的报告准则和正式的结果评估对于临床实践的整合至关重要.
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