Pathogenic variants in the BRCA1 and BRCA2 genes increase the risk of breast and ovarian cancer. Individuals with identified pathogenic variants in the BRCA1 or BRCA2 gene can benefit from cancer risk‐reducing strategies. In the recent years, there has been an increase in the demand of genetic services. In light of the ongoing COVID19 pandemic, alternatives to face‐to‐face consultations have had to be considered and adopted, including telemedicine. Informed consent is necessary for genetic testing. Studies have suggested that increased levels of cancer‐specific distress may impair the patient's ability to retain information, therefore, providing informed consent. This systematic review and meta‐analysis aimed to answer if telephone genetic counseling for BRCA1 and BRCA2 genetic testing is non‐inferior to in‐person genetic counseling for the outcomes of cancer‐specific distress and genetic knowledge. Databases of Medline, Embase, PsycINFO, CINAHL, SciELO, Web of Science, CENTRAL, ProQuest Dissertation & Theses Database, Clinicaltrials.gov, EU clinical trials register were accessed to identify any published or unpublished relevant literature. Random‐effects models were used for the meta‐analysis. Four studies were included in the qualitative synthesis of the results. Three studies were included in the quantitative synthesis of the results. Telephone genetic counseling was non‐inferior compared to in‐person genetic counseling for the outcomes of cancer‐specific distress and genetic knowledge. Sensitivity analysis corroborated the main results. Telephone genetic counseling for BRCA1/BRCA2 genetic testing may be an alternative model of delivering genetic services in front of the increased demand/or when required by social context. However, the paucity of the evidence prevents from drawing strong conclusions regarding the generalizability of these results. Further research is needed to strengthen the conclusions.

中文翻译：

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BRCA1/BRCA2 基因检测中电话与面对面遗传咨询的系统评价和荟萃分析

BRCA1和BRCA2基因中的致病变异会增加患乳腺癌和卵巢癌的风险。在BRCA1或BRCA2 中鉴定出致病变异的个体基因可以从降低癌症风险的策略中受益。近年来，对遗传服务的需求有所增加。鉴于持续的 COVID19 大流行，必须考虑和采用面对面咨询的替代方案，包括远程医疗。基因检测需要知情同意。研究表明，癌症特异性痛苦水平的增加可能会损害患者保留信息的能力，因此，提供知情同意。本系统评价和荟萃分析旨在回答BRCA1和BRCA2 的电话遗传咨询对于癌症特异性痛苦和遗传知识的结果，基因检测并不劣于面对面的遗传咨询。访问 Medline、Embase、PsycINFO、CINAHL、SciELO、Web of Science、CENTRAL、ProQuest 论文和论文数据库、Clinicaltrials.gov、欧盟临床试验注册数据库，以识别任何已发表或未发表的相关文献。随机效应模型用于荟萃分析。四项研究包括在结果的定性综合中。三项研究包括在结果的定量综合中。与面对面的遗传咨询相比，电话遗传咨询在癌症特异性痛苦和遗传知识的结果方面并不逊色。敏感性分析证实了主要结果。BRCA1/BRCA2电话遗传咨询基因检测可能是在需求增加之前/或在社会环境需要时提供基因服务的替代模式。然而，证据的缺乏阻碍了对这些结果的普遍性得出强有力的结论。需要进一步研究以加强结论。