Iskrov Georgi, Angelova Vyara, Bochev Boyan, Valchinova Vaska, Gencheva Teodora, Dzhuleva Desislava, Dichev Julian, Nedkova Tanya, Palkova Mariya, Tyutyukova Anelia, Hristova Maria, Hristova-Atanasova Eleonora, Stefanov Rumen
Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, 15A Vasil Aprilov Blvd., 4002 Plovdiv, Bulgaria.
Institute for Rare Diseases, 22 Maestro G. Atanasov St., 4017 Plovdiv, Bulgaria.
Int J Neonatal Screen. 2023 Oct 11;9(4):57. doi: 10.3390/ijns9040057.
Determining the scope of a newborn screening program is a challenging health policy issue. Our study aimed to explore the attitudes of specialists in pediatrics, neonatology, medical genetics, and biochemistry regarding the prospects for expanding the panel of diseases for universal newborn screening in Bulgaria. We conducted an online survey in March-May 2022. The questionnaire listed 35 disorders that could potentially be included in the Bulgarian panel for universal newborn screening. If endorsing a specific condition, participants had to justify their position by judging its performance against the ten principles of Wilson and Jungner. We found a high degree of knowledge about the current universal newborn screening program in Bulgaria. An overwhelming majority (97.4%) supported the expansion of the panel to include more conditions. Four disorders obtained 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 the condition as an important health problem was the most significant factor in this support. The costs of diagnosis and treatment appeared to be the main source of concern. We recommend country-specific economic evaluations and research on the views of other stakeholders, including the government, payers, and patient organizations, to better understand and manage the complex nature of newborn screening policymaking.
确定新生儿筛查项目的范围是一个具有挑战性的卫生政策问题。我们的研究旨在探讨儿科、新生儿科、医学遗传学和生物化学领域的专家对扩大保加利亚全民新生儿筛查疾病清单前景的看法。我们于2022年3月至5月进行了一项在线调查。问卷列出了35种可能纳入保加利亚全民新生儿筛查清单的疾病。如果支持某一特定疾病，参与者必须根据威尔逊和荣格纳的十项原则来评判其表现，以此证明自己的立场。我们发现，人们对保加利亚当前的全民新生儿筛查项目有很高的了解程度。绝大多数人（97.4%）支持扩大清单以纳入更多疾病。有四种疾病获得超过50%的纳入批准：囊性纤维化（87.0%）、地中海贫血（72.7%）、脊髓性肌萎缩症（65.6%）和经典型半乳糖血症（59.1%）。认为某疾病是重要的健康问题是这种支持的最重要因素。诊断和治疗费用似乎是主要担忧来源。我们建议针对各国进行经济评估，并研究包括政府、支付方和患者组织在内的其他利益相关者的观点，以更好地理解和管理新生儿筛查政策制定的复杂性。
