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

https://doi.org/10.1016/j.jpeds.2004.11.029Get rights and content

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.

Section snippets

Methods

A telephone interview guide was developed to address the following domains: individuals responsible for making the decision to screen, reasons for screening, whether CF NBS was mandated by the state, ability of parents to opt out of screening, the particular screening strategy used, and communication of screening results. We also asked how many infants were screened in the most recent year that complete data were available, how many positive screen infants were identified, and how many CF

Policy Decision to Screen for Cystic Fibrosis

In some cases, the decision to add a new screening test was reported to have been the result of a deliberative process, based on consideration of standard criteria for public health screening24, 25, 26 or for genetic screening in particular.27, 28, 29, 30, 31 In other cases, the decision was strongly influenced by an assertive advocate.32 The multiple reasons informants offered for adding CF included data suggested significant benefits (n = 3); CF fulfilled state screening criteria (n = 3); CF

Discussion

This paper demonstrates that that there is currently no single CF newborn screening model in the United States. In some states, screening for CF was offered to every infant, whereas in other states, screening depended on a particular hospital or primary care physician's decision. States varied widely in terms of what was considered an elevated IRT screening result, whether DNA testing was done, which mutations were tested for when DNA testing was done, and how results were interpreted.

The

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    The opinions expressed in this article are those of the authors and do not reflect the opinions or policies of the National Human Genome Research Institute, the National Institutes of Health, or the Department of Health and Human Services.

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