SynthesisGenetics in medicine : official journal of the American College of Medical Genetics2026
How variants of uncertain significance affect clinical decisions: A systematic review.
Synthesis in Genetics in medicine : official journal of the American College of Medical Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
0 citing papers in PubMed.
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Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
purposeTo assess the extent to which variants of uncertain significance (VUS) affect clinical decisions.
methodsWe conducted a systematic review of studies reporting the impact of VUS on clinical decisions. We extracted quantitative data on VUS' impact for grouped analysis. We calculated and compared odds ratios of the specified decisions for patients found to have benign results, VUS, and pathogenic results.
resultsWe included 45 articles in our overall review and 21 in our quantitative analysis. The overall review (n = 45) showed that VUS affect at least some care decision in 67% of studies. The quantitative analysis (n = 21) suggested that this impact clusters into 3 descriptive patterns, where VUS were treated as (1) benign, (2) "weak positives," or (3) pathogenic. VUS more commonly affect clinical decisions if studies were in fields outside of oncology, were prospective, reported clinician-centered versus patient-centered decisions, and reported screening versus definitive care decisions.
conclusionDespite being limited by the small, heterogeneous studies included, this analysis suggests that VUS affect at least some clinical decision in a majority of reports.
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