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Development of Strategies to Decrease False Positive Results in Newborn Screening
Sabrina Malvagia1, Giulia Forni1, Daniela Ombrone1
1Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology, Unit and Laboratories, Meyer Children's University Hospital, 50139 Florence, Italy.
Insights
Expanded newborn screening (NBS) improves infant health but increases false positives. Strategies like advanced analytical methods and biomarkers can enhance NBS accuracy, reducing unnecessary testing and parental anxiety.
Area of Science:
- Medical Genetics
- Public Health
- Biochemistry
Background:
- National newborn screening (NBS) programs have expanded, enabling early diagnosis and treatment of rare heritable conditions.
- Technological advancements allow screening for over 50 disorders, but increase false positive rates.
- High false positive rates in NBS lead to unnecessary, costly, and invasive follow-up testing for healthy infants.
Purpose of the Study:
- To review strategies for mitigating adverse effects of false positives in expanded newborn screening.
- To discuss methods for improving the performance and accuracy of NBS programs.
- To address the challenge of false positives in NBS systems for healthcare providers.
Main Methods:
- Overview of commonly used strategies to decrease adverse effects from inconclusive NBS results.
- Focus on analytical method implementation for NBS performance improvement.
- Application of novel, informative biomarkers and post-analytical interpretive tools.
Main Results:
- Implemented strategies aim to enhance the positive predictive value of NBS tests.
- These approaches can reduce parental anxiety associated with false positive results.
- Strategies are expected to lower healthcare costs linked to unnecessary NBS follow-up procedures.
Conclusions:
- Improving NBS accuracy is crucial for balancing benefits and harms of expanded screening.
- Advanced analytical methods, biomarkers, and interpretive tools are key to reducing false positives.
- Optimized NBS processes can minimize unnecessary testing, anxiety, and healthcare expenditure.
Abstract:
The expansion of national newborn screening (NBS) programmes has provided significant benefits in the diagnosis and early treatment of several rare, heritable conditions, preventing adverse health outcomes for most affected infants. New technological developments have enabled the implementation of testing panel covering over 50 disorders. Consequently, the increment of false positive rate has led to a high number of healthy infants recalled for expensive and often invasive additional testing, opening a debate about the harm-benefit ratio of the expanded newborn screening. The false-positive rate represents a challenge for healthcare providers working in NBS systems. Here, we give an overview on the most commonly used strategies for decreasing the adverse effects due to inconclusive screening results. The focus is on NBS performance improvement through the implementation of analytical methods, the application of new and more informative biomarkers, and by using post-analytical interpretive tools. These strategies, used as part of the NBS process, can to enhance the positive predictive value of the test and reduce the parental anxiety and healthcare costs related to the unnecessary tests and procedures.
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