Policy issues for expanding newborn screening programs: the cystic fibrosis newborn screening experience in the United States

OBJECTIVE: To describe the screening approaches and implementation strategies for cystic fibrosis newborn screening in the 12 programs that were offered in 11 states in 2002. STUDY DESIGN: Telephone interviews conducted in the spring of 2003 with program representatives in the 11 states. Screening approaches were defined in four overlapping categories: state mandated screening, state-wide offering, hospital based screening, and screening with informed consent. RESULTS: Screening was state mandated in seven states but was routinely offered to most infants in nine states. The primary care provider or hospital determined if screening was done in three states (four programs). Informed consent was explicitly documented in two states. In five programs, immunoreactive trypsinogen exclusively was used to identify at-risk infants. In seven programs, a second tier DNA test was also used, but these programs each had distinct strategies. In only two programs where DNA testing was performed and normal sweat tests indicated carrier status, were results routinely provided to parents "in person" at a CF center. CONCLUSION: The diversity of approaches for screening approaches and strategies has advantages for future policy decisions, provided that data about the clinical and psychosocial impact of screening from these programs are collected and disseminated. As additional states determine that the resources are available, programs can be designed with a more favorable benefit/risk balance as a result of the successes and challenges faced by other states.