Tools used to appraise the quality of studies included in systematic reviews and meta-analyses in human genetics: a systematic review.

IF 4.6 2区生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY

European Journal of Human Genetics Pub Date : 2025-05-21 DOI:10.1038/s41431-025-01861-6

Carmen Lindsay, Ingeborg Blancquaert, François Rousseau

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引用次数: 0

Abstract

Quality assessment of primary studies is an essential component of systematic reviews (SRs). This methodological review systematically examines the choice, format and utilization of critical appraisal (CA) tools in SRs with or without meta-analyses in the field of human genetics. We searched MEDLINE, Embase, Web of Science, and PubMed up to January 2024. Two reviewers independently performed title, abstract, full-text screening and data extraction. This PROSPERO registered methodological review followed PRISMA guidelines. Meta-analysis and full-scale risk-of-bias assessment of SRs were not relevant. Among 149 randomly selected SRs, 136 mentioned CA tools (156 citations). Nineteen different generic tools constituted 71.2% of citations. NOS, QUADAS and the Cochrane risk-of-bias tool represented 36.5, 11.5, and 8.3% of tools, respectively. Ninety-three reviews stated following reporting guidelines, with 22 PRISMA checklists accessible. Detailed presentation of results was observed for 65.8% of generic and 37.8% of customized tools (p = 0.0013). Results for NOS were less often detailed than for other generic tools (p < 0.0001). Few SRs used CA results for study selection, data analysis, or discussion of findings. In conclusion, this first review of CA tools in human genetics SRs highlights a lack of transparency regarding utilization of CA tools and deficiencies in reporting of CA results.Registration: PROSPERO (CRD42023449349).

查看原文本刊更多论文

用于评价纳入人类遗传学系统评价和荟萃分析的研究质量的工具：系统评价。

初步研究的质量评价是系统评价（SRs）的重要组成部分。本方法学综述系统地考察了人类遗传学领域中有或没有荟萃分析的SRs中关键评估（CA）工具的选择、格式和使用。我们检索了截止到2024年1月的MEDLINE、Embase、Web of Science和PubMed。两位审稿人独立进行标题、摘要、全文筛选和数据提取。这次普洛斯彼罗注册的方法审查遵循了PRISMA的指导方针。meta分析和SRs的全面风险偏倚评估不相关。在随机选取的149篇论文中，136篇提到了CA工具（156次引用）。19种不同的通用工具占引用量的71.2%。NOS、QUADAS和Cochrane风险偏倚工具分别占36.5%、11.5和8.3%。93份审查报告遵循报告准则，有22份PRISMA核对表可供查阅。65.8%的通用工具和37.8%的定制工具观察到详细的结果呈现（p = 0.0013）。与其他通用工具相比，NOS的结果往往不太详细(p

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来源期刊

European Journal of Human Genetics 生物-生化与分子生物学

CiteScore

9.90

自引率

5.80%

发文量

216

审稿时长

2 months

期刊介绍： The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community. Key areas include: -Monogenic and multifactorial disorders -Development and malformation -Hereditary cancer -Medical Genomics -Gene mapping and functional studies -Genotype-phenotype correlations -Genetic variation and genome diversity -Statistical and computational genetics -Bioinformatics -Advances in diagnostics -Therapy and prevention -Animal models -Genetic services -Community genetics