A Pilot Surveillance System for High Impact/Low Prevalence Congenital and Inherited Conditions

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The purpose of this research is to design and test the feasibility of a surveillance system for congenital and inherited conditions that have low prevalence but high health and economic impact in the U.S. population that will support description of this population across the lifespan. Initial design of this surveillance system will focus on three conditions which exemplify different types of disorders: e.g. spina bifida is an example of a neurological condition affecting mobility; muscular dystrophy is an example of a neuromuscular condition; and fragile X syndrome is an example of a condition affecting cognition and behavior. The project will develop a prototype surveillance system that, if found effective, can serve as a model for other low prevalence/high impact conditions. There is currently no system or integrated approach to identify and describe persons affected by these conditions, thus limiting opportunities to understand, intervene, and improve health services and public health outcomes for those people affected with these conditions and their families. A system focused on low prevalence/high impact conditions may assist public health practitioners, clinicians, and other groups to: describe the epidemiology and the features of secondary health conditions associated with these disorders; monitor the progress of public health interventions, develop screening strategies for the detection of new cases, inform policies aimed at improving the healthcare delivered to these patients, and address potential differences or disparities in the impact of these conditions on the population. In short, this research effort will explore how different systems and data sources may be used to improve health services and health outcomes among people affected with selected conditions and their relatives.

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