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).