Bavisetty Supriya, Grody Wayne W, Yazdani Shahram
Department of Pediatrics; David Geffen School of Medicine; UCLA; Los Angeles, CA USA.
Divisions of Medical Genetics and Molecular Pathology; Departments of Pathology and Laboratory Medicine, Pediatrics and Human Genetics; David Geffen School of Medicine; UCLA, Los Angeles, CA USA.
Rare Dis. 2013 Jan 28;1:e23579. doi: 10.4161/rdis.23579. eCollection 2013.
In this article we discuss the steps taken by the United States (US) and the European Union (EU) to meet the health care needs of children with rare diseases and suggest possible directions for future endeavors for further improvement. We reviewed 23 reports and nine legislative documents related to pediatric rare diseases and public policy. We assessed the outcome measures of access and satisfaction with medical services by utilizing the surveys done by the European Organization for Rare Diseases -Eurordis (n = 5,963). Comparable surveys were not available in the US. Our analyses of the existing policies and surveys indicate multiple differences between the US and EU. While the US policies seem to be aimed at disease diagnosis and neonatal screening, EU legislators appear to be focusing on access to existing specialized care. However, both systems have struggled with effectively promoting new treatments. Also, while Eurordis surveys have evaluated areas such as the access to medical services, access to social services and satisfaction with the services received in Europe, there are no comparable surveys in the United States. We conclude that better tools are needed to measure the quality of care, needs-assessment and outcome of pediatric rare diseases in both the EU and US. We suggest a better assessment of areas such as access to primary and specialty care, legal advocacy, comfort-care, end-of-life care, social and financial services, psychological support and quality outcome-measures.
在本文中，我们讨论了美国和欧盟为满足罕见病儿童的医疗需求所采取的措施，并提出了未来进一步改进的可能方向。我们查阅了23份与儿科罕见病及公共政策相关的报告和9份立法文件。我们利用欧洲罕见病组织（Eurordis）开展的调查（n = 5,963）评估了医疗服务可及性和满意度的结果指标。美国没有可比的调查。我们对现有政策和调查的分析表明，美国和欧盟之间存在多重差异。美国的政策似乎旨在疾病诊断和新生儿筛查，而欧盟立法者似乎专注于获得现有的专科护理。然而，两个体系在有效推广新疗法方面都面临困难。此外，虽然Eurordis的调查评估了欧洲在医疗服务可及性、社会服务可及性以及对所接受服务的满意度等领域，但美国没有可比的调查。我们得出结论，在美国和欧盟，都需要更好的工具来衡量儿科罕见病的护理质量、需求评估和结果。我们建议对以下领域进行更好的评估，如初级和专科护理的可及性、法律维权、舒适护理、临终关怀、社会和金融服务、心理支持以及质量结果指标。
