Three State Rare Conditions Surveillance Project

描述（由申请人提供）：本项目的总体目标是设计和试点测试一个低患病率和高影响的先天性和遗传性疾病的监测系统，使用脊柱裂（SB），肌肉萎缩症（MD）和脆性X综合征（FXS）作为三种代表性疾病。我们计划确定现有的监测系统和数据来源，然后在第一年在南卡罗来纳州和科罗拉多实施被动和主动系统，并在第二年为这个为期两年的项目增加堪萨斯。我们将通过文献回顾和与州卫生部门的合作，特别是出生缺陷监测/监督计划，确定三种目标条件的现有地方，区域和国家数据来源和监测系统。在确定了一个全面的项目清单之后，我们将确定这些现有数据源和监测系统中的差距和缺陷。在我们从现有系统中学习之后，我们将制定并执行一项计划，将所有主要数据源整合到一个功能性监测系统中，同时用于三个目标条件。该系统将包括一个核心模块（共同要素）和扩展模块（特定条件要素）。该计划将包括一个三态方法，并将包括一个从多个来源删除重复数据的方法。我们将对监测系统进行试点测试，并编写一份报告，就建立国家监测系统的可行性提出建议。调查结果将说明所使用的数据来源、在整合数据来源方面遇到的障碍以及试点数据摘要，包括查明信息或系统方面的重要差距。

DESCRIPTION (provided by applicant):The overall aim of this project is to design and pilot test a surveillance system for low prevalence and high impact congenital and inherited conditions using spina bifida (SB), muscular dystrophy (MD), and fragile X syndrome (FXS) as three representative conditions. We plan to identify existing surveillance systems and sources of data and then implement both a passive and active system in South Carolina and Colorado in Year 1, and add Kansas in Year 2 for this two-year project. We will identify existing local, regional, and national data sources and surveillance systems for the three target conditions, through a review of the literature and through our collaboration with state departments of health, particularly the Birth Defects Monitoring/surveillance programs. After a thorough inventory of programs is identified we will identify gaps and deficiencies in these existing data sources and surveillance systems. After we have learned from existing systems we will develop and execute a plan to integrate all major data sources into a functional surveillance system for the three target conditions simultaneously. The system will include a core module (common elements) and extension modules (condition specific elements). The plan will include a three state approach and it will include an approach to de-duplicate data from multiple sources. We will pilot test the surveillance system and develop a report with recommendations regarding the feasibility of a national surveillance system. The findings will describe the data sources used, barriers encountered in integrating the data sources, and a summary of pilot data including identification of important gaps in information or systems.