Project Summary
The primary objective of the MSGRCC Metabolic Newborn Screening Long-term Follow-up Study was to develop a long-term follow-up program over a sufficiently large population in a suitably homogenous manner that allowed the systematic analysis of factors that affect long-term outcome of all patients with inborn errors of metabolism identified by newborn screening. To provide for a sufficient number of patients, a multi-state collaborative consortium was organized. Homogeneity of data was achieved through the development of minimal disease-specific care plans and shared datasets that focused on disease characteristics including genotype, treatment criteria, and common measurable long-term outcome parameters. The datasets also included objective measures of neurocognitive and functional outcome. It is planned that all these parameters will be included in a single database. Using this data, parameters that critically affect long-term outcome will be evaluated. A primary question to be analyzed is whether presymptomatic identification through newborn screening has measurable objective benefits on long-term outcome when compared to symptomatic clinical detection. Hence, the database will also include patients identified through clinical ascertainment in which the same parameters are tracked. In addition, minimum disease-specific care parameters in the database also will provide a baseline from which to analyze the impact of clinic-specific variations in treatment, thus allowing systematic studies of improvements in treatment strategies. Also, the minimum parameters will serve as a baseline to track adherence to medical recommendations as judged against the outcome. Finally, the heterogeneity of the study region over a large geographic area using similar homogenous treatment parameters will allow for studies on the impact of socioeconomic and organizational variables on the long-term outcome of the conditions involved.
_________________________________________________________________________________________________________
Nearly all states throughout the country are moving toward expanded newborn screening. Doing so will result in the diagnosis of many inborn errors of metabolism in asymptomatic newborns that were previously diagnosed in symptomatic infants and children. Early diagnosis is naturally felt to be beneficial and result in better medical and developmental outcomes for the children, however, for many of the disorders detected by expanded newborn screening, this is speculative as there is a current lack of long term follow-up.
The lack of outcome data for presymptomatically or very early diagnosed infants with many inborn errors of metabolism signals the need for this information to be gathered. This requires systematic, consistent, and reliable data collection of as many patients as possible. Given the rarity of these conditions, patient information needs to be gathered from across the region.
The biochemical genetic care providers throughout the Mountain States Region have a long history of strong collaboration and cooperation. By bringing together the regional care providers, systematically reviewing the disorders to be diagnosed via expanded newborn screening, determining appropriate clinical parameters and outcome measures to be collected, and subsequently systematically gathering the determined information, we will be able to prospectively collect the necessary information that will begin to inform on the long term outcome of such disorders and do so with appropriate patient volume.