How literate are populations in genetics and genomics? A systematic review and meta-analysis

Background

Genomic and genetic literacy (GL) is defined as the integration of knowledge of genetic principles with the ability to interpret and apply such information within clinical and public health contexts. Inadequate genomic literacy leads to disparities and adverse outcomes, making its quantification essential to support healthcare providers in refining preventive measures and genetic counseling by tailoring communication tools to the public’s real-world comprehension. This systematic review aims to synthesize existing evidence to quantify the current status of GL in the general population, filling a gap in the current literature.

Methods

A systematic search of PubMed, Scopus, and Web of Science was conducted up to March 2026 (PROSPERO CRD420250654818). Studies were included if they used validated or ad hoc GL assessment tools to measure GL levels. Random-effects meta-analyses were conducted for proportions in studies reporting binary outcomes (adequate vs. inadequate GL), and for mean scores in those utilizing continuous assessment tools.

Results

The initial search yielded 1,319 records; after deduplication and screening, 34 studies were included. The included studies were published between 2008 and 2026, covering Europe, the Americas, Asia, and Oceania. In the proportion meta-analysis, the pooled prevalence of adequate GL was 0.56 (95% CI: 0.19-0.89). In studies using the Genetic and Genomic Competency Index (GNCI, score 0-31), the pooled mean score was 12.57 (95% CI: 10.13–15.02), suggesting substantial gaps in genomic knowledge and application. Among studies not included in the meta-analyses, most reported inadequate levels of GL in the target population.

Conclusions

Available evidence, though limited and heterogeneous, indicates that GL levels within the general population remain suboptimal. Public health interventions are needed to improve GL and support informed decision-making in preventive and clinical contexts.

Key messages

• Genomic literacy (GL) is fundamental for equitable health and diagnostic-therapeutic opportunities. This study provides a precise, up-to-date global estimate of GL levels based on current literature.

• Evidence shows suboptimal genomic literacy worldwide. Urgent public health interventions and tailored communication are essential to bridge these gaps and support informed decision-making.