Georgi Iskrov, Vyara Angelova , Boyan Bochev, Vaska Valchinova, Teodora Gencheva, Desislava Dzhuleva, Julian Dichev, Tanya Nedkova, Mariya Palkova , Anelia Tyutyukova, Maria Hristova, Eleonora Hristova-Atanasova, and Rumen Stefanov, as part of the Institute for Rare Diseases, Department of Social Medicine and Public Health and Medical Faculty at the Medical University – Plovdiv conducted a comprehensive survey exploring the perspectives of specialists in pediatrics, neonatology, medical genetics, and biochemistry on expanding the range of diseases covered by universal newborn screening in Bulgaria.
Current research study named “Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals” has been published in the prestigious international journal “International Journal of Neonatal screening” (Impact factor: 3.5).
Defining the scope of a newborn screening program poses a complex challenge in health policy. This study aims to explore the viewpoints of specialists in pediatrics, neonatology, medical genetics, and biochemistry regarding the potential expansion of the disease panel for universal newborn screening in Bulgaria. Conducted as an online survey from March to May 2022, the questionnaire presented 35 disorders that could potentially be incorporated into the Bulgarian panel for universal newborn screening. Participants, when supporting a specific condition, were required to justify their stance by evaluating its alignment with the ten principles of Wilson and Jungner.
The results revealed a substantial understanding of the existing universal newborn screening program in Bulgaria, with an overwhelming majority (97.4%) expressing support for expanding the panel to include additional conditions. Notably, four disorders received more than 50% approval for inclusion: cystic fibrosis (87.0%), thalassemia (72.7%), spinal muscular atrophy (65.6%), and classical galactosemia (59.1%). The perception of a condition as a significant health issue emerged as the most influential factor in garnering support. Concerns primarily centered around the costs associated with diagnosis and treatment.
The findings of this study emphasize the need for country-specific economic evaluations and additional research involving various stakeholders, such as government entities, payers, and patient organizations, to comprehensively comprehend and navigate the intricate landscape of newborn screening policymaking. Read the full article here.