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Pheochromocytoma and paraganglioma genetic testing: Psychological impact.
Health Psychology ( IF 4.2 ) Pub Date : 2020-07-06 , DOI: 10.1037/hea0000993
Raquel Gomes Martins , Irene Palmares Carvalho

OBJECTIVE Genetic testing is recommended for all pheochromocytoma/paraganglioma tumor-affected patients and, if positive, for their relatives, who are at risk of developing tumors. This study aims to assess the previously unexamined psychological impact of genetic testing and identify factors associated with this impact. METHOD A nationwide sample of 103 individuals carrying succinate dehydrogenase mutations answered the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire plus two measures of general well-being (the SF-36 Health Survey and the Hospital Anxiety and Depression scale). Sociodemographic, clinical, and personality characteristics (the 5 personality factors and locus of control) were also assessed. Data were analyzed with bivariate and GLM univariate analyses. RESULTS Genetic testing-related mean scores were 6.12 for Distress, 11.58 for Uncertainty, 10.61 for Positive experiences, and almost 30% of the sample displayed high MICRA global suffering. Tumor-affected participants whose neoplasia was identified through presymptomatic screening felt that the genetic test has made it easier to cope with their disease. Significant aspects associated with genetic-testing-related Distress and Uncertainty included higher levels of Neuroticism and Agreeableness. An interaction between having the neoplasia and having children was also associated with higher levels of Distress. Education and Conscientiousness were associated with Positive experiences. Affected mutation carriers presented lower global quality of life and higher anxiety and depression levels than healthy mutation carriers. CONCLUSIONS Genetic testing's impact depends on individual characteristics. The identified characteristics can inform clinical practice regarding who might benefit from special care in genetic counseling. (PsycInfo Database Record (c) 2020 APA, all rights reserved).

中文翻译:

嗜铬细胞瘤和副神经节瘤基因检测:心理影响。

目的建议对所有受嗜铬细胞瘤/神经节瘤瘤影响的患者以及如果有阳性风险的亲属(有患肿瘤风险)进行基因检测。这项研究的目的是评估基因检测先前未检验的心理影响,并确定与此影响相关的因素。方法:在全国范围内对103名携带琥珀酸脱氢酶突变的个体进行了抽样调查,他们回答了癌症风险评估(MICRA)的多维影响力问卷,以及两项总体健康指标(SF-36健康调查和医院焦虑与抑郁量表)。还评估了社会人口统计学,临床和人格特征(5个人格因素和控制源)。使用双变量和GLM单变量分析来分析数据。结果与基因检测相关的平均得分为6。遇险为12,不确定性为11.58,积极经历为10.61,几乎30%的样本显示了MICRA全球苦难程度很高。通过症状前筛查确定为肿瘤的受肿瘤影响的参与者感到,基因检测使其更容易应对疾病。与基因测试相关的困扰和不确定性相关的重要方面包括较高的神经质和愉快程度。瘤形成与生孩子之间的相互作用也与更高水平的痛苦有关。教育和尽责与积极的经历有关。与健康的突变携带者相比,受影响的突变携带者呈现出较低的整体生活质量以及更高的焦虑和抑郁水平。结论基因测试的影响取决于个体特征。所确定的特征可以为临床实践提供指导,告知谁可以从基因咨询中的特殊护理中受益。(PsycInfo数据库记录(c)2020 APA,保留所有权利)。
更新日期:2020-07-06
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