Newborn Screening Outcomes Project
Project Lead: Dr. Janet Thomas

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.