Background Hereditary non-polyposis colorectal cancer (HNPCC) and Hereditary Breast and Ovarian Cancer Syndrome (HBOC) are the most common hereditary cancer syndromes in which a genetic test is available. Potential risks associated with testing include psychological harm, emotional distress and insurance problems. Methods The aim of the present study is to investigate determinants of distress in a sample of Italian subjects undergoing genetic counseling. Demographic information and psychological distress were assessed by using a self-reported questionnaire and the “Hospital Anxiety and Depression Scale” (HAD), before attending the first counseling session. Results Of the all subjects referred for the first time to our Center (January 2012–June 2013), a total of 227 were eligible (female/male = 174/53) for the survey, 134 (59%) were oncologic patients and of these, 116 received genetic test (36 for HNPCC and 80 for HBOC). The remaining 93 (41%) were healthy subjects referred for suspected familiar history and of this group, 65 subjects performed predictive test in a family with a known pathogenic mutation (53 for HBOC and 12 for HNPCC). Affected subjects had a significantly higher level of anxiety ( p = 0.02) and HAD global score ( p = 0.01) than healthy ones. There was no difference in HAD score between individuals testing for different syndromes ( p = 0.3). In the affected subgroup, there was a significant linear correlation between the HAD anxiety score and how much subjects perceived their disease as hereditary ( p = 0.01). Female and younger subjects had higher levels of anxiety ( p = 0.05). Also healthy single subjects show more general distress ( p = 0.02) than those with a partner. Conclusions Greater level of distress identified on females, single and younger subjects.

中文翻译：

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遗传咨询前的期望和心理问题：痛苦决定因素分析

背景 遗传性非息肉病性结直肠癌 (HNPCC) 和遗传性乳腺癌和卵巢癌综合征 (HBOC) 是可进行基因检测的最常见的遗传性癌症综合征。与测试相关的潜在风险包括心理伤害、情绪困扰和保险问题。方法 本研究的目的是调查接受遗传咨询的意大利受试者样本中痛苦的决定因素。在参加第一次咨询会议之前，通过使用自我报告的问卷和“医院焦虑和抑郁量表”（HAD）评估人口统计信息和心理困扰。结果 2012 年 1 月至 2013 年 6 月首次转介到我中心的所有受试者中，共有 227 人符合调查条件（女性/男性 = 174/53），134 名 (59%) 是肿瘤患者，其中 116 名接受了基因检测（HNPCC 36 人，HBOC 80 人）。其余 93 名 (41%) 是因疑似熟悉病史而转诊的健康受试者，其中 65 名受试者在具有已知致病突变的家族中进行了预测测试（HBOC 53 名，HNPCC 12 名）。受影响的受试者的焦虑水平（p = 0.02）和 HAD 整体评分（p = 0.01）显着高于健康受试者。测试不同综合征的个体之间的 HAD 评分没有差异 (p = 0.3)。在受影响的亚组中，HAD 焦虑评分与受试者认为其疾病是遗传性的程度之间存在显着的线性相关性（p = 0.01）。女性和年轻受试者的焦虑程度较高（p = 0.05）。健康的单身受试者也表现出更普遍的痛苦（p = 0. 02) 比那些有伴侣的人。结论 女性、单身和年轻受试者的痛苦程度更高。