Institute of Continuing Education, University of Cambridge, Cambridge, UK.
Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London, UK.
J Genet Couns. 2021 Apr;30(2):563-573. doi: 10.1002/jgc4.1343. Epub 2020 Nov 1.
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& Theses Database, Clinicaltrials.gov, EU clinical trials register were accessed to identify any published or unpublished relevant literature.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.
BRCA1 和 BRCA2 基因中的致病变体增加了乳腺癌和卵巢癌的风险。在 BRCA1 或 BRCA2 基因中发现致病变体的个体可以受益于降低癌症风险的策略。近年来,对遗传服务的需求不断增加。鉴于持续的 COVID19 大流行,不得不考虑并采用面对面咨询的替代方法,包括远程医疗。遗传测试需要获得知情同意。研究表明,癌症特异性困扰水平的升高可能会损害患者保留信息的能力,从而无法提供知情同意。本系统评价和荟萃分析旨在回答电话遗传咨询是否与面对面遗传咨询一样,不会影响 BRCA1 和 BRCA2 基因检测的癌症特异性困扰和遗传知识结果。检索了 Medline、Embase、PsycINFO、CINAHL、SciELO、Web of Science、CENTRAL、ProQuest 学位论文和论文数据库、Clinicaltrials.gov、欧盟临床试验注册中心的数据库,以确定任何已发表或未发表的相关文献。使用随机效应模型进行荟萃分析。有四项研究纳入了结果的定性综合。有三项研究纳入了结果的定量综合。电话遗传咨询在癌症特异性困扰和遗传知识方面与面对面遗传咨询一样,并不劣于后者。敏感性分析证实了主要结果。在遗传服务需求增加或社会环境需要时,电话遗传咨询可能是 BRCA1/BRCA2 基因检测遗传服务的替代模式。然而,证据的缺乏使得无法就这些结果的普遍性得出强有力的结论。需要进一步的研究来加强结论。