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Balancing benefits and risks for cystic fibrosis newborn screening: implications for policy decisions
Benjamin S Wilfond1, Richard B Parad, Norman Fost
1Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. wilfond@nhgri.nih.gov
Insights
Newborn screening (NBS) for cystic fibrosis (CF) requires careful consideration of benefits versus risks. Alternative approaches to mandatory NBS may reduce psychosocial risks, improving the overall benefit/risk balance for CF detection.
Area of Science:
- Public Health Policy
- Medical Genetics
- Neonatal Care
Background:
- Newborn screening (NBS) policy decisions are complex when benefits and risks are not clearly defined.
- Mandatory NBS for cystic fibrosis (CF) may not always be the most appropriate approach due to nuanced benefit-risk considerations.
Purpose of the Study:
- To explore alternative strategies for newborn screening (NBS) for cystic fibrosis (CF).
- To evaluate how to optimize the benefit/risk balance in CF NBS programs.
- To inform policy decisions regarding the implementation of CF NBS.
Main Methods:
- Analysis of policy decision-making frameworks for NBS.
- Consideration of provider-level strategies, such as enhanced parental engagement.
- Evaluation of program-level tradeoffs between screening sensitivity and specificity.
- Assessment of policy-level factors including resource availability and outcome assessment systems.
Main Results:
- Alternative NBS approaches can reduce psychosocial risks, potentially at the cost of minor reductions in medical benefits.
- Programmatic decisions on sensitivity and specificity may involve accepting a lower detection rate for some infants with CF.
- Policy implementation requires evaluating financial resources, clinical services, and outcome assessment capabilities.
Conclusions:
- CF NBS can be justified if a favorable benefit/risk balance is achieved through a carefully designed program.
- Inadequately designed NBS programs risk being less beneficial than traditional diagnostic methods.
- Tailored approaches, considering local resources and specific program goals, are crucial for effective CF NBS.
Abstract:
Policy decisions for newborn screening (NBS) are particularly challenging when the balance of benefits and risks is not tipped dramatically in 1 direction. When this is the case, as with cystic fibrosis (CF), the traditional approach of mandatory testing of all newborns in all states may not be appropriate. Alternative approaches may produce a substantial reduction in psychosocial risks, at the cost of a small reduction in medical benefits, and thus improve the benefit/risk balance. At the provider level, this could include greater engagement and discussion with parents before testing. At the program implementation level, specific decisions about tradeoffs between sensitivity and specificity that could result in not identifying all infants with CF may be appropriate. At the policy decision level, deciding whether to implement CF NBS in a particular state could involve consideration of the availability of the financial resources, clinical services, and systems for assessing outcomes. Although CF NBS can be justified in settings in which the specific approach has a favorable benefit/risk balance, an inadequately designed screening program has the potential for being less favorable than the current approach of diagnosis on the basis of clinical criteria or family history.
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