Petterson Alexander T, Garbarini Jennifer, Baker Maria J
Genetic Counseling Program, Arcadia University, Glenside, PA, USA.
Penn State Hershey Medical Center, Hershey, PA, USA.
Hered Cancer Clin Pract. 2024 Sep 5;22(1):18. doi: 10.1186/s13053-024-00290-8.
Lynch syndrome represents the most common hereditary cause of both colorectal and endometrial cancer. It is caused by defects in mismatch repair genes, as well as EPCAM. Universal screening of colon tumors for Lynch syndrome via microsatellite instability (MSI) and/or immunohistochemistry (IHC) can identify patients and families at risk to develop further cancers and potentially impact surveillance and treatment options. The approach to implementation of universal screening, taking ethical considerations into account, is critical to its effectiveness, with patient perspectives providing valuable insight.
Patients whose colon tumors underwent universal screening at Penn State Hershey Medical Center over a period of 2.5 years were mailed a survey on universal screening in 2017. Along with the survey, they received a recruitment letter and a summary explanation of research. The survey included both multiple choice and free-response questions that covered topics including respondent knowledge of Lynch syndrome, attitudes toward universal screening and experiences with the screening protocol as implemented.
Sixty-six of 297 possible patients (22.2%) responded to the survey, including 13 whose screening results raised concern for Lynch syndrome. 75.8% of respondents supported universal tumor screening without informed consent. 92.4% preferred receiving screening results regardless of outcome. Respondents described benefits to screening for themselves and their families.
While broadly supporting universal tumor screening without informed consent, respondents also wanted more information shared about the screening policy, as well as their results. These patient preferences should be one of many factors considered when implementing universal screening and can also inform practices regarding both tumor profiling and universal genetic testing, which is becoming more prevalent.
林奇综合征是结直肠癌和子宫内膜癌最常见的遗传性病因。它由错配修复基因以及EPCAM的缺陷引起。通过微卫星不稳定性（MSI）和/或免疫组织化学（IHC）对结肠肿瘤进行林奇综合征的普遍筛查，可以识别有患其他癌症风险的患者及其家庭，并可能影响监测和治疗方案。在考虑伦理因素的情况下实施普遍筛查的方法对其有效性至关重要，患者的观点能提供有价值的见解。
2017年，宾夕法尼亚州立大学赫尔希医学中心在2.5年期间对其结肠肿瘤接受普遍筛查的患者邮寄了一份关于普遍筛查的调查问卷。随调查问卷一起，他们收到了一封招募信和一份研究摘要说明。该调查问卷包括多项选择题和自由回答问题，涵盖的主题包括受访者对林奇综合征的了解、对普遍筛查的态度以及对所实施筛查方案的体验。
297名可能的患者中有66名（22.2%）回复了调查问卷，其中13名患者的筛查结果引起了对林奇综合征的关注。75.8%的受访者支持在未经知情同意的情况下进行普遍肿瘤筛查。92.4%的受访者无论结果如何都希望收到筛查结果。受访者描述了筛查对自己和家人的益处。
虽然受访者普遍支持在未经知情同意的情况下进行普遍肿瘤筛查，但他们也希望能更多地了解筛查政策及其结果。在实施普遍筛查时，这些患者的偏好应是众多考虑因素之一，并且也能为肿瘤分析和普遍基因检测的实践提供参考，而普遍基因检测正变得越来越普遍。
