As genomic medicine becomes increasingly integrated into routine healthcare, genetic/genomic (G/G) literacy has emerged as a key determinant of informed decision-making. However, evidence on how G/G literacy influences intentions to undergo testing or actual test uptake remains fragmented. This systematic review synthesizes current research on the association between G/G literacy and decisions regarding G/G testing. Databases were searched up to February 2025. Inclusion criteria were observational studies assessing G/G literacy with validated or ad hoc measures and reporting its association with genomic testing intention or uptake. Quality assessment and data extraction were conducted independently by multiple reviewers. A narrative synthesis of the findings was performed (PROSPERO CRD420250654819). Seven recently published (2019-2025) cross-sectional studies were included, spanning diverse countries and populations. Five studies examined testing intentions, while the remaining investigated testing uptake. Quality was variable. Most studies used Likert-scale measures for testing intention and single-item questions for uptake. Adjusted analyses using validated G/G tools consistently showed that higher G/G literacy was associated with greater testing intention across various contexts. Conversely, evidence for actual uptake was extremely limited and inconsistent. Specific dimensions of literacy, particularly familiarity with terms and communicative/critical skills, may play a greater role than factual knowledge alone. Current evidence suggests that G/G literacy positively influences testing intention, while additional factors may contribute to actual test uptake. Given the paucity of evidence and some methodological limitations, standardized and longitudinal designs are needed to clarify these associations and inform interventions that support high-quality genomic decision-making. Supporting testing decisions may require moving beyond knowledge-based approaches to focus on building familiarity with genomic terminology and addressing perceived benefits and barriers. • Higher Genetic/Genomic Literacy generally predicts stronger testing intentions. • Evidence on Genetic/Genomic Literacy and actual testing uptake remains limited. • Genetic/Genomic Literacy tools lack standardization across studies. • Longitudinal research on literacy and genomic decision-making is needed.
Pausilli et al. (Sun,) studied this question.