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Newborn screening for cystic fibrosis. The Cystic Fibrosis Neonatal Screening Study Group
1Department of Pediatrics, University of Wisconsin, Medical School, Madison.
Insights
Neonatal screening for cystic fibrosis (CF) requires more research on long-term benefits before widespread adoption. Current evidence does not yet show clear pulmonary advantages from early CF treatment.
Area of Science:
- Medical Genetics
- Pediatric Pulmonology
- Public Health Screening
Background:
- Neonatal screening for cystic fibrosis (CF) is under consideration, but significant questions persist regarding its efficacy, risks, and associated costs.
- A critical knowledge gap exists concerning the long-term medical benefits of initiating CF treatment in early infancy, hindering general recommendations for newborn screening in the United States.
Purpose of the Study:
- To conduct a randomized, controlled investigation of neonatal screening for cystic fibrosis.
- To systematically evaluate outcome measures over time to determine the efficacy of early intervention.
Main Methods:
- A randomized, controlled trial of CF neonatal screening was designed and implemented.
- Systematic evaluation of outcome measures was performed over a 5-year period.
Main Results:
- After 5 years of randomized screening, no significant pulmonary benefits have been identified from initiating treatment in early infancy.
- Ethical considerations for both CF patients and heterozygote carriers require resolution.
- Financial factors and cost-effectiveness were assessed and found not to be dominant issues.
Conclusions:
- Mass population screening for CF in newborns is premature until benefits and risks are fully defined and effective therapies or screening systems are available.
- The discovery of the CF gene is expected to positively influence future neonatal screening and disease management strategies.
- Further rigorous investigation is essential to resolve the efficacy issues surrounding CF neonatal screening.
Abstract:
Many questions remain regarding the efficacy, risks, and costs of CF neonatal screening. The major gap in knowledge that must be closed before CF neonatal screening can be recommended generally in the United States concerns the potential long-term medical benefits of initiating treatment in early infancy. It would be premature, in our opinion, to implement mass population screening of newborns for CF until the benefits and risks have been fully defined, and an adequate and logistically feasible testing system developed and/or highly effective therapy for CF lung disease becomes available. It is for this reason we designed a randomized, controlled investigation of CF neonatal screening and implemented this project in Wisconsin during 1985. The fact that 5 years of randomized screening and systematic evaluation of outcome measures have not yet revealed any pulmonary benefits underscores the importance of rigorous investigation to resolve the efficacy issue. In addition to the medical uncertainties, we believe that the ethical issues described herein need to be resolved; this concern pertains not only to the CF patient but also the heterozygote carrier. On the other hand, financial factors and uncertainty about the cost effectiveness of CF neonatal screening do not appear to be dominant issues according to our assessment of current data. Despite the reservations related to the benefit/risk relationship, we expect that the discovery of the CF gene should have a favorable impact on neonatal screening for the disease, as well as for management.