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Diagnostic and Communication Challenges in Cystic Fibrosis Newborn Screening
Joan Kathleen DeCelie-Germana1, Lynn Bonitz1, Elinor Langfelder-Schwind2
1Cohen Children's Medical Center, Division of Pediatric Pulmonary and Cystic Fibrosis, Zucker School of Medicine at Hofstra/Northwell, New York, NY 11040, USA.
Life (Basel, Switzerland)
|August 26, 2023
Summary
Cystic fibrosis (CF) newborn screening (NBS) uses immunoreactive trypsinogen (IRT) and now includes CFTR sequencing. This improves early detection and equitable identification of infants with CF, enhancing long-term outcomes.
Area of Science:
- Genetics
- Pediatrics
- Public Health
Background:
- Cystic Fibrosis (CF) newborn screening (NBS) is a universal public health initiative in the US.
- Immunoreactive trypsinogen (IRT) is the primary biomarker, but has limitations.
- Implementation of CF NBS presents ongoing challenges.
Purpose of the Study:
- To review the evolution of CF NBS algorithms.
- To discuss challenges and strategies for bias reduction in CF NBS.
- To provide recommendations for future CF NBS programs.
Main Methods:
- Review of the New York State CF NBS program's evolution.
- Analysis of incorporating CFTR sequencing into NBS algorithms.
- Examination of biomarker performance and diagnostic challenges.
Main Results:
- CFTR sequencing enhances early identification of CF infants.
- Genetic testing improves equitable identification across diverse populations.
- Inconclusive diagnoses are an increasing challenge with advanced screening.
Conclusions:
- CF NBS has evolved significantly with genetic advancements.
- Addressing challenges in CF NBS is crucial for optimal infant outcomes.
- Future NBS strategies should focus on equity and diagnostic clarity.
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