#3763 Usage of genetic testing, awareness levels, and barriers in nephrology practice in turkey: a national survey study

Abstract Background and Aims Genetic testing is gaining prominence in the diagnosis and management of chronic kidney disease (CKD), with an increasing number of adult kidney diseases being linked to genetic causes. However, its adoption in clinical practice remains limited due to knowledge gaps and systemic barriers. This study investigates the awareness, knowledge, and implementation of genetic testing among nephrologists in Turkey. We aim to identify key barriers such as cost, accessibility, and interpretation issues while assessing the impact of demographic and professional factors. Furthermore, we explore potential policy recommendations to integrate genetic testing into routine nephrology practice. Method A nationwide survey was conducted from June 25 to July 25, 2024, involving adult and pediatric nephrologists, including fellows, through national associations and online platforms. Data were collected using an online questionnaire. Descriptive statistics and chi-square tests were used for data analysis. Results A total of 158 nephrologists participated. The participants represented various healthcare institutions, including university hospitals (44.9%), research and training hospitals (36.1%), and private clinics (7.6%), covering 48 cities across Turkey. Several barriers were identified as obstacles to genetic test implementation. The most frequently cited issue was the lack of available genetic testing at their centers (46.8%), followed by insufficient knowledge about genetic testing (42.4%) and high costs (36.1%). Other barriers included delays in obtaining test results due to long processing times (31.6%) and the perception that genetic tests are not essential for clinical outcomes (22.8%). Regarding knowledge levels, only 25.3% of nephrologists considered themselves adequately informed, while 55.7% felt they had partial knowledge. Furthermore, 44.3% emphasized the requirement of filling out detailed genetic test request forms, which they believed significantly impacted the interpretability of results. Only 20.3% of the participants expressed confidence in interpreting genetic test results independently, indicating a reliance on multidisciplinary collaboration. Conclusion To enhance the integration of genetic testing into nephrology practice, several key policy recommendations must be implemented. First, improving genetic literacy among nephrologists through structured education programs and accessible resources is essential. Collaborative efforts should be strengthened by establishing multidisciplinary councils that bring together nephrologists, geneticists, and other specialists to streamline diagnosis and management. Developing national clinical guidelines for the use of genetic testing will provide standardized protocols and improve consistency in practice. Additionally, addressing financial and logistical barriers by reducing costs and improving test accessibility is critical. Our findings align with a previous survey conducted among 149 adult nephrologists in the United States, which identified similar barriers such as high costs (46%), limited accessibility, and insufficient knowledge on genetic testing applications. This demonstrates the global nature of challenges surrounding genetic testing in nephrology. However, unlike previous studies, our survey represents the most comprehensive assessment of its kind in Turkey, covering a broad spectrum of both adult and pediatric nephrologists across multiple institutions and regions. As the first national-scale study in Turkey, it provides critical insights into the gaps and opportunities for integrating genetic testing. By adopting a personalized and multidisciplinary approach and building on international collaborations, these findings can serve as a foundation for future improvements and innovations in genetic nephrology practices globally.