Genomic medicine knowledge, self-assessment, and training needs among Turkish pediatricians: a cross-sectional survey

The integration of genomic medicine into clinical practice has become increasingly important for frontline clinicians. Pediatricians represent a particularly important group, as they routinely encounter patients with suspected genetic conditions. However, data on genomic knowledge among pediatricians in Turkey - a country with unique epidemiological and healthcare characteristics - remain scarce.

A cross-sectional survey was conducted between February 10 and March 10, 2026 via Google Forms among 266 pediatricians at various career stages (residents, specialists, subspecialty trainees/specialists, and academics). The survey comprised a demographic section, four Likert-type self-assessment items, and 15 objective knowledge questions. Statistical analyses included the Shapiro-Wilk normality test, Kruskal-Wallis and Mann-Whitney U tests, chi-square test, one-way ANOVA with Tukey HSD post-hoc analysis, Dunn test with Bonferroni correction for non-parametric comparisons, and Spearman correlation analysis.

The mean knowledge score was 8.67 ± 2.99 out of 15 (57.8%). Mean subscores were 59.8% for basic clinical genetics and 53.8% for advanced genomic therapies, with low-scoring items in both domains. Professional title (H = 34.29, p < 0.001), years of experience (H = 23.70, p < 0.001), and structured genetics training (Mann-Whitney U, p < 0.001) were significantly associated with knowledge scores; in multivariable analysis, title and training, but not experience, remained associated. Overall, 51.5% of participants reported never having received structured genetics education. Knowledge scores did not differ by gender (p = 0.647). Genetics training was associated with genetic test-ordering frequency(χ²=15.46, p = 0.004).

Turkish pediatricians showed moderate knowledge of the genomic topics assessed, with gaps in both basic and advanced topics. Structured genetics education was associated with higher knowledge scores and more frequent genetic test ordering, although the cross-sectional design precludes causal inference. These findings support developing and evaluating targeted genomic education for pediatricians.