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促进遗传性乳腺癌/卵巢癌或林奇综合征基因检测结果的家庭沟通及级联筛查的干预措施:一项系统评价和荟萃分析

Interventions Facilitating Family Communication of Genetic Testing Results and Cascade Screening in Hereditary Breast/Ovarian Cancer or Lynch Syndrome: A Systematic Review and Meta-Analysis.

作者信息

Baroutsou Vasiliki, Underhill-Blazey Meghan L, Appenzeller-Herzog Christian, Katapodi Maria C

机构信息

Department of Clinical Research, Faculty of Medicine, University of Basel, 4055 Basel, Switzerland.

School of Nursing, Wilmot Cancer Institute Hereditary Cancer Program, University of Rochester, Rochester, NY 14642, USA.

出版信息

Cancers (Basel). 2021 Feb 23;13(4):925. doi: 10.3390/cancers13040925.

DOI:10.3390/cancers13040925
PMID:33672149
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7926393/
Abstract

Evidence-based guidelines recommend cascade genetic testing of blood relatives of known Hereditary Breast and Ovarian Cancer (HBOC) or Lynch Syndrome (LS) cases, to inform individualized cancer screening and prevention plans. The study identified interventions designed to facilitate family communication of genetic testing results and/or cancer predisposition cascade genetic testing for HBOC and LS. We conducted a systematic review and meta-analysis of randomized trials that assessed intervention efficacy for these two outcomes. Additional outcomes were also recorded and synthesized when possible. Fourteen articles met the inclusion criteria and were included in the narrative synthesis and 13 in the meta-analysis. Lack of participant blinding was the most common risk of bias. Interventions targeted HBOC ( 5); both HBOC and LS ( 4); LS ( 3); or ovarian cancer ( 2). All protocols ( 14) included a psychoeducational and/or counseling component. Additional components were decision aids ( 4), building communication skills ( 4), or motivational interviewing ( 1). The overall effect size for family communication was small ( 0.085) and not significant ( 0.344), while for cascade testing, it was small ( 0.169) but significant ( 0.014). Interventions show promise for improving cancer predisposition cascade genetic testing for HBOC and LS. Future studies should employ family-based approaches and include racially diverse samples.

摘要

循证指南建议对已知遗传性乳腺癌和卵巢癌(HBOC)或林奇综合征(LS)病例的血亲进行级联基因检测,以制定个性化的癌症筛查和预防计划。该研究确定了旨在促进基因检测结果的家庭沟通和/或针对HBOC和LS的癌症易感性级联基因检测的干预措施。我们对评估这两种结果干预效果的随机试验进行了系统评价和荟萃分析。如有可能,还记录并综合了其他结果。14篇文章符合纳入标准,纳入叙述性综合分析,13篇纳入荟萃分析。缺乏参与者盲法是最常见的偏倚风险。干预措施针对HBOC(5项);HBOC和LS(4项);LS(3项);或卵巢癌(2项)。所有方案(14项)都包括心理教育和/或咨询部分。其他部分包括决策辅助工具(4项)、培养沟通技巧(4项)或动机性访谈(1项)。家庭沟通的总体效应量较小(0.085)且无显著性(0.344),而级联检测的效应量较小(0.169)但有显著性(0.014)。干预措施有望改善针对HBOC和LS的癌症易感性级联基因检测。未来的研究应采用基于家庭的方法,并纳入种族多样化的样本。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0fa/7926393/76f8604a58df/cancers-13-00925-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0fa/7926393/d03a05dcf886/cancers-13-00925-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0fa/7926393/9912115ada59/cancers-13-00925-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0fa/7926393/8d53cb4ee910/cancers-13-00925-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0fa/7926393/49eec5929833/cancers-13-00925-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0fa/7926393/9aac7495cd88/cancers-13-00925-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0fa/7926393/e9a6d226a0b5/cancers-13-00925-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0fa/7926393/76f8604a58df/cancers-13-00925-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0fa/7926393/d03a05dcf886/cancers-13-00925-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0fa/7926393/9912115ada59/cancers-13-00925-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0fa/7926393/8d53cb4ee910/cancers-13-00925-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0fa/7926393/49eec5929833/cancers-13-00925-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0fa/7926393/9aac7495cd88/cancers-13-00925-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0fa/7926393/e9a6d226a0b5/cancers-13-00925-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0fa/7926393/76f8604a58df/cancers-13-00925-g007.jpg

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