Practices and perceptions of long-term follow-up among state newborn screening programs

The purposes of the study were to describe and to analyze the types of policies and practices that exist currently among state newborn screening programs in relation to long-term follow-up oversight and activities for newborns with confirmed disorders and to examine the perceptions of newborn screening program leaders regarding long-term follow-up activities.

A 23-question survey was administered to state newborn screening program coordinators in each of the 50 states, the District of Columbia, Puerto Rico, and the US Virgin Islands in January to February 2005.

Survey findings revealed significant variation in terms of how long-term follow-up is defined, staffed, and conducted within state newborn screening programs. This variation does not seem to be related to existing state program capacity, in terms of size of newborn screening programs or available resources. In addition, at present many state programs do not conduct long-term follow-up oversight or activities for newborns with diagnosed disorders, and many of those that do seem to lack necessary staffing and quality assurance mechanisms for effective long-term follow-up.

The results point generally to a need for greater attention in aligning state newborn screening program capacity with long-term follow-up, increased emphasis on standardization for long-term follow-up activities, and development of stronger quality assurance oversight from state newborn screening programs if effective long-term follow-up oversight is to occur nationally. Given the present expansion of newborn screening in many states, additional research and policymaking with respect to long-term follow-up seem warranted.