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.
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.
复制标题
DOI：
10.3390/cancers13040925
复制
发表时间：
2021-02-23
期刊：
影响因子：
5.2
通讯作者：
Katapodi MC
中科院分区：
文献类型：
--
作者：
Baroutsou V;Underhill-Blazey ML;Appenzeller-Herzog C;Katapodi MC
一般来说，所有癌症的5-20%是由于在家族中遗传的癌症基因的致病性变体。建议具有这种致病性变体的个体的血亲进行基因检测，以确定他们是否也携带相同的变体。这些信息将帮助他们的医疗保健提供者制定个性化的癌症筛查和预防计划。然而，只有大约30%的高危亲属进行了基因检测，这可能是由于家庭成员之间缺乏关于遗传性癌症基因的沟通。在本文中，我们确定了旨在改善两种常见遗传性癌症综合征的高危亲属之间关于遗传性癌症和/或基因检测的家庭沟通的干预措施。我们分析了这些干预措施的组成部分，并用统计方法综合了结果。虽然我们确定了14项合格的研究，但仍有许多关于临床和研究意义的问题有待于在未来的研究中解决。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，以告知个性化的癌症筛查和预防计划。该研究确定了旨在促进遗传检测结果和/或HBOC和LS的癌症易感性级联遗传检测的家庭交流的干预措施。我们对评估这两种结果的干预有效性的随机试验进行了系统回顾和荟萃分析。在可能的情况下，还记录和综合了其他成果。14篇文章符合纳入标准，被纳入叙述性综合，13篇被纳入荟萃分析。缺乏受试者设盲是最常见的偏倚风险。干预针对HBOC（n = 5）; HBOC和LS（n = 4）; LS（n = 3）;或卵巢癌（n = 2）。所有方案（n = 14）包括心理教育和/或咨询部分。其他组成部分是决策辅助（n = 4），建立沟通技巧（n = 4），或动机面试（n = 1）。家庭沟通的总体效应量较小（g = 0.085）且不显著（p = 0.344），而级联检验的总体效应量较小（g = 0.169）但显著（p = 0.014）。干预措施有望改善HBOC和LS的癌症易感性级联基因检测。未来的研究应采用以家庭为基础的方法，并包括种族多样性的样本。
In general, 5–20% of all cancers are due to pathogenic variants in cancer genes that are passed down in the family. It is recommended that blood relatives of individuals with such a pathogenic variant have genetic testing, to identify if they also carry the same variant. This information will help their healthcare providers to make individualized cancer screening and prevention plans. However, only around 30% of at-risk relatives have genetic testing, presumably due to a lack of communication about inherited cancer genes among family members. In this paper, we identified interventions that were designed to improve family communication about hereditary cancer and/or genetic testing among at-risk relatives for two common hereditary cancer syndromes. We analyzed the components of these interventions and synthesized outcomes with statistical methods. Although we identified 14 eligible studies, there are still many unanswered questions about clinical and research implications with diverse samples to be addressed in future studies. 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 (n = 5); both HBOC and LS (n = 4); LS (n = 3); or ovarian cancer (n = 2). All protocols (n = 14) included a psychoeducational and/or counseling component. Additional components were decision aids (n = 4), building communication skills (n = 4), or motivational interviewing (n = 1). The overall effect size for family communication was small (g = 0.085) and not significant (p = 0.344), while for cascade testing, it was small (g = 0.169) but significant (p = 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.
登录
查看更多内容
影响因子：
1.6
作者：
Bowen, Deborah J.;Hyams, Travis;Jarvik, Gail
通讯作者：
Jarvik, Gail
影响因子：
3.5
作者：
Evans, D. G. R.;Binchy, A.;Craufurd, D.
通讯作者：
Craufurd, D.
DOI：
10.1126/science.1251827
发表时间：
2014-03-28
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Couch FJ;Nathanson KL;Offit K
通讯作者：
Offit K
影响因子：
1.9
作者：
Buchanan, Adam H.;Datta, Santanu K.;Adams, Martha B.
通讯作者：
Adams, Martha B.
影响因子：
3.4
作者：
Dekker, N.;Hermens, R. P.;Hoogerbrugge, N.
通讯作者：
Hoogerbrugge, N.