Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions.

IF 2 4区医学 Q3 ONCOLOGY Hereditary Cancer in Clinical Practice Pub Date : 2024-09-05 DOI:10.1186/s13053-024-00290-8

Alexander T Petterson, Jennifer Garbarini, Maria J Baker

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Abstract

Background: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

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林奇综合征结直肠肿瘤的普遍筛查：患者经验和意见调查。

背景：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。它是由错配修复基因和 EPCAM 的缺陷引起的。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，可以发现有进一步罹患癌症风险的患者和家庭，并对监测和治疗方案产生潜在影响。考虑到伦理因素，实施普遍筛查的方法对其有效性至关重要，患者的观点可提供宝贵的见解：宾夕法尼亚州立赫尔希医疗中心在 2.5 年内对结肠肿瘤患者进行了普遍筛查，并于 2017 年向这些患者邮寄了一份关于普遍筛查的调查问卷。他们在收到调查问卷的同时，还收到了一封招募信和一份研究摘要说明。调查包括多项选择题和自由回答题，涉及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实施筛查方案的经验：297 位可能的患者中有 66 位（22.2%）对调查做出了回复，其中 13 位患者的筛查结果引起了对林奇综合征的担忧。75.8%的受访者支持在没有知情同意的情况下普及肿瘤筛查。92.4%的受访者倾向于接收筛查结果，无论结果如何。受访者描述了筛查对自己和家人的益处：尽管受访者广泛支持在无知情同意的情况下普及肿瘤筛查，但他们也希望分享更多有关筛查政策以及筛查结果的信息。在实施普遍筛查时，患者的这些偏好应成为考虑的众多因素之一，同时也可为肿瘤特征描述和普遍基因检测的实践提供参考，因为这两种检测正变得越来越普遍。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Hereditary Cancer in Clinical Practice 医学-肿瘤学

CiteScore

3.10

自引率

5.90%

发文量

审稿时长

>12 weeks

期刊介绍： Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.