Landsbergen K M, Prins J B, Brunner H G, Hoogerbrugge N
Department of Human Genetics, University Nijmegen Medical Centre, The Netherlands.
Genet Couns. 2009;20(4):317-25.
Genetic testing offered directly after the diagnosis of colorectal cancer: a pilot study on the reactions of patients:
When colorectal cancer is diagnosed before the age of 50 years, then consideration should be given to a hereditary cause. Indications of heredity can be found in tumour tissue with the aid of microsatellite instability (MSI) testing. A positive MSI test means an increased risk of hereditary colorectal cancer, the so-called Lynch syndrome. Until recently, the usual approach was to postpone genetic testing for colorectal cancer until the family history had been studied extensively and information had been made available by a clinical geneticist about the possible consequences. However, it is now possible for MSI testing to be performed on the initiative of the pathologist when the newly diagnosed patient with colorectal cancer is younger than 50 years. This speeds up the procedure considerably. The psychological effects of discussing genetic testing and referring patients during treatment for colorectal cancer are currently unknown. This paper describes an exploratory study on the experience of eight colorectal cancer patients with the new Lynch syndrome detection strategy.
The patients were interviewed at home using a semistructured questionnaire based on the multicausal model of problem analysis and adapted with items for colorectal cancer and genetic testing.
Three coordinating themes were found: (1) 'a changed life after the diagnosis of colorectal cancer', (2) 'warning for the future' and (3) 'communication with family'. It was a considerable challenge for these patients to cope with the physical and psychosocial consequences of colorectal cancer. The majority regarded possible carriership of a hereditary disposition for the Lynch syndrome as useful medico-preventive knowledge for their children. The timing of the confrontation with genetic testing was considered to save time in receiving follow-up advice for their children. However, these patients were apprehensive about having to discuss a hereditary disposition for cancer with their family.
In this early phase, coping with the diagnosis of colorectal cancer and the consequences of treatment mainly determined the reactions of these patients and their physical well-being. This small group of patients was of the opinion that the advantages of genetic testing will weigh-up against the disadvantages.
结直肠癌诊断后直接进行基因检测：关于患者反应的一项试点研究
当在50岁之前诊断出结直肠癌时，应考虑遗传因素。借助微卫星不稳定性（MSI）检测可在肿瘤组织中发现遗传迹象。MSI检测呈阳性意味着遗传性结直肠癌风险增加，即所谓的林奇综合征。直到最近，通常的做法是在广泛研究家族病史并由临床遗传学家提供有关可能后果的信息后，才推迟对结直肠癌进行基因检测。然而，现在当新诊断的结直肠癌患者年龄小于50岁时，病理学家可主动进行MSI检测。这大大加快了检测过程。目前尚不清楚在结直肠癌治疗期间讨论基因检测并转诊患者会产生何种心理影响。本文描述了一项对八名结直肠癌患者采用新的林奇综合征检测策略的经验的探索性研究。
使用基于问题分析多因果模型并针对结直肠癌和基因检测进行了调整的半结构化问卷，在家中对患者进行访谈。
发现了三个协调主题：（1）“结直肠癌诊断后生活改变”，（2）“对未来的警示”和（3）“与家人沟通”。对这些患者而言，应对结直肠癌的身体和心理社会后果是一项巨大挑战。大多数人认为林奇综合征遗传性倾向的可能性对其子女而言是有用的医学预防知识。他们认为进行基因检测的时机有助于节省为子女获取后续建议的时间。然而，这些患者担心必须与家人讨论癌症的遗传倾向。
在这个早期阶段，应对结直肠癌诊断及其治疗后果主要决定了这些患者的反应及其身体健康状况。这一小部分患者认为基因检测的好处将超过坏处。
