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家族性结直肠癌遗传咨询的疗效:一项荟萃分析。

The efficacy of genetic counseling for familial colorectal cancer: A meta-analysis.

作者信息

Ciucă Andrada, Clancy Tara, Pintea Sebastian, Moldovan Ramona

机构信息

Department of Psychology, Babeş-Bolyai University, Cluj-Napoca, Romania.

Division of Evolution and Genomic Sciences, School of Biological Science, University of Manchester, Manchester, UK.

出版信息

J Genet Couns. 2025 Jun;34(3):e70046. doi: 10.1002/jgc4.70046.

Abstract

Genetic counseling has been proven to be effective for several conditions in relation to outcomes such as risk perception and knowledge. By statistically combining data from individual studies, a meta-analysis can provide a precise estimate of an intervention's overall effect. The aim of this quantitative meta-analysis was to assess the efficacy of genetic counseling for familial colorectal cancer and to explore characteristics that might influence the direction or magnitude of the relationship between the intervention and the outcome. We conducted an electronic search of literature published until March 2024. This identified 3150 articles, 30 of which met the inclusion criteria. Effect size parameters and sample sizes for all variables in each study were included. Results showed that genetic counseling has an overall statistically significant effect size of small magnitude (d = 0.234). Results indicate that genetic counseling is effective for affective (d = 0.162), cognitive (d = 0.298), and behavioral outcomes (d = 0.539); for individuals with a personal and/or family history; whether testing is diagnostic or predictive; and, with the exception of uncertain/uninformative results (4 studies), regardless of the testing results. Also, clinical/research teams that included a genetic counselor generated a significantly larger effect compared to teams without a genetic counselor. Our analysis showed that genetic counseling is effective for familial colorectal cancer. These results should encourage theoretical analyses and empirical studies exploring the process and rationale of genetic counseling from a more programmatic perspective.

摘要

遗传咨询已被证明在风险认知和知识等结果方面对多种疾病有效。通过对个体研究的数据进行统计合并,荟萃分析可以精确估计一种干预措施的总体效果。这项定量荟萃分析的目的是评估遗传咨询对家族性结直肠癌的疗效,并探索可能影响干预措施与结果之间关系的方向或程度的特征。我们对截至2024年3月发表的文献进行了电子检索。共识别出3150篇文章,其中30篇符合纳入标准。纳入了每项研究中所有变量的效应量参数和样本量。结果表明,遗传咨询总体上具有统计学显著的小效应量(d = 0.234)。结果表明,遗传咨询对情感(d = 0.162)、认知(d = 0.298)和行为结果(d = 0.539)有效;对有个人和/或家族病史的个体有效;无论检测是诊断性还是预测性的;并且,除了不确定/无信息结果的情况(4项研究)外,无论检测结果如何均有效。此外,与没有遗传咨询师的团队相比,包括遗传咨询师的临床/研究团队产生的效应显著更大。我们的分析表明,遗传咨询对家族性结直肠癌有效。这些结果应鼓励从更具系统性的角度探索遗传咨询过程和原理的理论分析和实证研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c6f9/12131688/032baada9ccf/JGC4-34-0-g002.jpg

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