Ballatore Zelmira, Bracci Raffaella, Maccaroni Elena, Svarca Lucia, Bianchi Francesca, Belvederesi Laura, Bruciati Cristiana, Pagliaretta Silvia, Murrone Alberto, Bini Federica, Pistelli Mirco, Ricci Giulia, Berardi Rossana
1Clinica Oncologica, Azienda Ospedaliero Universitaria Ospedali Riuniti di Ancona Umberto I G M Lancisi G Salesi, Ancona, Italy.
2Oncologia, Azienda Ospedaliera Ospedali Riuniti Marche Nord, Presidio Santa Croce, Fano, Italy.
Hered Cancer Clin Pract. 2020 Apr 29;18:10. doi: 10.1186/s13053-020-00142-1. eCollection 2020.
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.
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.
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 ( = 0.02) and HAD global score ( = 0.01) than healthy ones. There was no difference in HAD score between individuals testing for different syndromes ( = 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 ( = 0.01). Female and younger subjects had higher levels of anxiety ( = 0.05). Also healthy single subjects show more general distress ( = 0.02) than those with a partner.
Greater level of distress identified on females, single and younger subjects.
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）是最常见的可进行基因检测的遗传性癌症综合征。与检测相关的潜在风险包括心理伤害、情绪困扰和保险问题。
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困扰的决定因素。在参加第一次咨询会议之前，使用自我报告问卷和“医院焦虑和抑郁量表”（HAD）评估人口统计学信息和心理困扰。
在2012年1月至2013年6月首次转诊至我们中心的所有受试者中，共有227人（女性/男性=174/53）符合调查条件，其中134人（59%）为肿瘤患者，其中116人接受了基因检测（36人检测HNPCC，80人检测HBOC）。其余93人（41%）为因疑似家族病史转诊的健康受试者，其中65人在一个已知致病突变的家族中进行了预测性检测（53人检测HBOC，12人检测HNPCC）。受影响的受试者比健康受试者有显著更高的焦虑水平（P=0.02）和HAD总分（P=0.01）。不同综合征检测的个体之间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具有遗传性的程度之间存在显著的线性相关性（P=0.01）。女性和年轻受试者的焦虑水平较高（P=0.05）。此外，健康的单身受试者比有伴侣的受试者表现出更多的一般困扰（P=0.02）。
女性、单身和年轻受试者的困扰程度更高。
