Oliveri Serena, Ferrari Federica, Manfrinati Andrea, Pravettoni Gabriella
Department of Oncology and Hematoncology, Interdisciplinary Research Center on Decision Making Processes, University of Milan, Milan, Italy.
Applied Research Division for Cognitive and Psychological Science, IEO Istituto Europeo di Oncologia, Milan, Italy.
Front Genet. 2018 Dec 10;9:624. doi: 10.3389/fgene.2018.00624. eCollection 2018.
Genetic testing is performed for different purposes, such as identifying carriers, predicting a disease onset in presymptomatic individuals or confirming a diagnosis. However, these tests may have notable psychological effects, such as generating anxiety and depression. These effects may depend on people's perception of risk, severity, and controllability of the disease; and the availability of treatments. To date, there are no reports that analyze these factors specifically, and their role in influencing genetic test users' experience. We performed a systematic review of the psychological implication of undergoing genetic testing for cardiovascular, neurodegenerative and cancer diseases. Articles were searched on PubMed, Google Scholar, and PsychInfo. 47 studies were included, 9 concerning cardiovascular disease, 18 neurodegenerative disorders, and 20 for cancer disease. According to the reviewed studies, people experience no significant increase in distress and anxiety, or adverse impacts on quality of life, except the Huntington disease, which is characterized by depressive symptoms, suicidal ideations, and hopelessness in gene carriers. People tend to consider genetic tests as valid information to take important preventive decisions. Genetic risk for cardiovascular disease is perceived to be manageable; genetic analysis for some neurodegenerative diseases (e.g., Alzheimer) or cancer (breast cancer in particular) is considered useful because the problem could be addressed in advance with preventive behaviors. Genetic tests should be proposed along with proper psychological support and counseling focused on users' genetic health literacy; perception of risk, beliefs about disease controllability, in order to foster fruitful medical decisions.
基因检测用于不同目的,如识别携带者、预测症状前个体的疾病发作或确诊疾病。然而,这些检测可能会产生显著的心理影响,如引发焦虑和抑郁。这些影响可能取决于人们对疾病风险、严重程度和可控性的认知,以及治疗方法的可用性。迄今为止,尚无专门分析这些因素及其在影响基因检测使用者体验方面作用的报告。我们对心血管疾病、神经退行性疾病和癌症进行基因检测的心理影响进行了系统综述。在PubMed、谷歌学术和PsychInfo上搜索了相关文章。共纳入47项研究,其中9项关于心血管疾病,18项关于神经退行性疾病,20项关于癌症。根据综述研究,除亨廷顿病外,人们在痛苦和焦虑方面没有显著增加,对生活质量也没有负面影响,亨廷顿病基因携带者的特征是出现抑郁症状、自杀念头和绝望情绪。人们倾向于将基因检测视为做出重要预防决策的有效信息。心血管疾病的遗传风险被认为是可控的;一些神经退行性疾病(如阿尔茨海默病)或癌症(特别是乳腺癌)的基因分析被认为是有用的,因为可以通过预防行为提前解决问题。应在提供基因检测的同时,给予适当的心理支持和咨询,重点关注用户的基因健康素养、风险认知以及对疾病可控性的信念,以促进做出有益的医疗决策。