Non-genetic physicians' self-assessment of knowledge and confidence toward genetic testing and counseling: a national survey in a high consanguineous population.

内容摘要

Genetic testing is increasingly used in clinical practice. This places new demands on non-genetic physicians (NGPs) to select appropriate tests, interpret complex results, and counsel patients about implications. In highly consanguineous countries such as Saudi Arabia, where the burden of hereditary diseases is high, these demands require a genomic-ready workforce. This study aimed to assess NGPs' self-perceived knowledge and confidence regarding genetic testing and counseling, and to examine their association with demographic and professional characteristics. An online questionnaire was distributed and completed by 582 NGPs from all regions in Saudi Arabia. The questionnaire collected demographic data, self-assessments of knowledge and confidence, referral frequency to a genetic counselor or clinical geneticist, and resources used to obtain genetic information. The self-assessment of NGPs' knowledge and confidence revealed a deficit. Results indicated moderate genetic knowledge among the NGPs, with a median of 4 (interquartile range 1-8) out of 16, and low confidence levels, with a median of 2 (interquartile range 0-4) out of 8. Consultants exhibited significantly higher knowledge and confidence compared with other ranks (p&#x2009;<&#x2009;0.001). A strong positive correlation was observed between knowledge and confidence levels (Spearman's rho&#x2009;=&#x2009;0.796, p&#x2009;<&#x2009;0.01). Over half of the NGPs (54.3%) referred patients to genetic counselors or geneticists, and more than 50% relied on general clinical resources (UpToDate and search engines), whereas fewer than 50% reported using Online Mendelian Inheritance in Man (OMIM) or GeneReviews. This study reports low self-perceived genetic knowledge and confidence among NGPs in Saudi Arabia, despite frequent exposure to patients with genetic conditions. Strengthening genetic education throughout medical and residency training and integrating clinical decision support into mainstream models are critical to building a genomics-ready workforce aligned with Saudi Vision 2030.