Impact of Digital Tools on Knowledge, Genetic Counseling, and Testing Uptake: A Systematic Review and Meta-analysis

This systematic review and meta-analysis aimed to synthesize evidence on the effects of digital genetic tools on completion of pretest counseling, uptake of genetic testing, and knowledge.

The meta-analysis was performed using Review Manager (RevMan 5.4.1) software to synthesize effect sizes. Databases including, PubMed, Web of Science, Ovid MEDLINE, CINAHL, and Scopus were searched. The methodological quality of the studies was assessed using the Cochrane and Joanna Briggs Institute (JBI) critical appraisal checklists.

Seventeen studies with 6,714 participants were included. Digital interventions significantly increased completion of pretest counseling across four studies (Odds ratio [OR] 2.07, 95% confidence interval [95% CI] 1.22-3.51; Z = 2.70, P = .0007). Genetic testing uptake did not differ between digital and in-person care across seven studies (OR 1.30, 95% CI 0.80-2.10; P = .29; I² = 82%). Knowledge outcomes were comparable for telehealth versus in-person (SMD -0.09, 95% CI -0.40 to 0.23; P = .59); other digital formats suggested greater gains in some settings (SMD 1.19, 95% CI 0.01-2.37; P = .05), though pooled effects were not statistically significant and heterogeneity was substantial.

Digital tools are generally noninferior to in-person care for knowledge and psychosocial outcomes and roughly equivalent for genetic test uptake, while doubling the odds of completing pretest counseling.

Digital genetic counseling delivered via telehealth, web-based platforms, and AI-supported tools can expand access to genetic services while maintaining patient-centered care. Nurses play a key role in guiding patients through these technologies and supporting informed, equitable access within digital and hybrid care models.

PROSPERO (CRD420251042666).