The genetic risk of chronic diseases represents a complex medical setting in which individuals need to adapt to health conditions that manage daily living towards to healthy behaviours. This exploratory review focused on psychological counselling for genetic risk diagnosis. This study aimed to address the psychological management of the impact of genetic risk on chronic diseases. We performed a systematic search of MEDLINE via PubMed, Embase, Web of Science, PsycINFO and Scopus for articles from May 2012 to August 2023. A descriptive analysis of the characteristics of the included studies was conducted. Based on the exclusion/inclusion criteria, the literature search yielded 250 studies. Seventeen full texts were assessed for eligibility and 207 articles were excluded. Observational (n = 15) and randomised clinical trials (n = 2) were examined. Most studies have been conducted on oncological diagnoses; the emotional dimensions examined have been worry, depression, anxiety and stress in most diseases. Psychological measures are based on self-reports and questionnaires; few studies have investigated the connections between quality of life, psychological traits and emotional dimensions. The complexity of clinics and from daily diagnostic and treatment practices to the everyday experience of those living with the risk of disease might be addressed in counselling settings to improve quality of life in genetic risk, increasing mental adaptation to tailored chronic conditions. Thus, the empowerment of communication of genetic risk information should be part of the general trend towards personalised medicine.

中文翻译：

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患者对感知比较基因突变风险的看法：探索性综述

慢性病的遗传风险代表了一种复杂的医疗环境，在这种环境中，个人需要适应健康状况，从而管理日常生活以实现健康行为。本次探索性综述的重点是遗传风险诊断的心理咨询。本研究旨在解决遗传风险对慢性病影响的心理管理。我们通过 PubMed、Embase、Web of Science、PsycINFO 和 Scopus 对 MEDLINE 进行了系统检索，检索 2012 年 5 月至 2023 年 8 月的文章。对纳入研究的特征进行了描述性分析。根据排除/纳入标准，文献检索产生了 250 项研究。对 17 篇全文进行了资格评估，并排除了 207 篇文章。 检查了观察性临床试验 ( n  = 15) 和随机临床试验 ( n = 2)。大多数研究都是针对肿瘤诊断进行的；在大多数疾病中，所检查的情绪维度是担忧、抑郁、焦虑和压力。心理测量以自我报告和问卷调查为基础；很少有研究调查生活质量、心理特征和情感维度之间的联系。诊所的复杂性以及从日常诊断和治疗实践到那些有疾病风险的人的日常经历可以在咨询环境中得到解决，以改善遗传风险的生活质量，提高对定制慢性病的心理适应。因此，遗传风险信息交流的授权应该成为个性化医疗大趋势的一部分。