Physicians' awareness of the expanded neonatal screening program; Информированность врачей о программе расширенного неонатального скрининга

Introduction. One of the effective options for early diagnosis of treatable hereditary diseases is large-scale newborn screenings (neonatal screening). At the same time, studying the awareness and opinions of healthcare professionals about the neonatal screening program is important for understanding existing barriers to its implementation. Aim. To analyze to what extent physicians from diverse specialties are aware of the expanded neonatal screening program. Materials and Methods. This paper analyzes the results of studying the awareness of 477 physicians from diverse specialties of the expanded neonatal screening program. The study involved examining the awareness of the expanded neonatal screening program and the sources of knowledge about it among physicians, as well as understanding the importance of screening as a method for preventing congenital and hereditary diseases. To identify differences between the answers of clinical geneticists and other medical professionals to the questionnaire, χ2 was calculated. Results and Discussion. It is found that only 39.2% of clinicians exactly know the list of diseases included in the expanded neonatal screening. This indicates confusion with the existing information materials or insufficient awareness among the clinicians surveyed of the current changes in screening. It should be noted that absolutely all clinical geneticists are aware of the expansion of the neonatal screening program. This is quite expected, given their specialization and role in interpreting screening results. It is shown that the frequency of false positive and false negative results of the expanded neonatal screening is directly affected by the pre-analytical stage, which includes timely blood collection. Knowing the correct timing of expanded the neonatal screening in term and preterm newborns is closely related to the awareness of the changes made in the program. Respondents who correctly indicated the introduced changes were more likely to choose the correct answer and less likely to make mistakes. It is found that 38.2% of the respondents believe that screening in general is not a method for prevention, while 61.8% rejected this statement, confirming the importance of screening in the prevention of congenital diseases. The main source of information about the expanded neonatal screening for physicians are articles published in medical journals, participation in scientific conferences and seminars, and consulting Internet resources. Despite the low popularity of methodological manuals as a source for learning during the initial acquisition of knowledge, physicians actively use them in their practical work at the decision-making stage. Conclusions. Early detection of hereditary and congenital diseases contributes to the timely initiation of treatment and correction thereof, which helps prevent or significantly reduce the development of severe complications, as well as improve the child’s quality of life. © 2025 Elsevier B.V., All rights reserved.