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Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
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Cystic Fibrosis: Management01:24

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Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
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Next-generation Sequencing03:00

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Related Experiment Video

Updated: Jan 14, 2026

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
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Next-Generation Sequencing for Cystic Fibrosis: Florida Newborn Screening Experience.

Deanna M Green1, Jean Polasky1, Mark Weatherly2

  • 1Division of Pediatric Pulmonology and Cystic Fibrosis, Johns Hopkins All Children's Hospital, St. Petersburg, FL 33701, USA.

International Journal of Neonatal Screening
|October 24, 2025
PubMed
Summary

Florida

Keywords:
cystic fibrosisimmunoreactive trypsinogennewborn screeningnext generation sequencequality improvementsweat test

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Area of Science:

  • Medical Genetics
  • Newborn Screening
  • Genetic Testing

Background:

  • Cystic Fibrosis (CF) is a genetic disorder impacting newborns.
  • Newborn screening (NBS) aids early diagnosis and treatment for CF.
  • Florida enhanced its CF NBS program in 2022 with next-generation sequencing (NGS).

Purpose of the Study:

  • To evaluate the impact of implementing enhanced next-generation sequencing (NGS) in Florida's cystic fibrosis newborn screening program.
  • To assess changes in variant identification, referral rates, and CF case detection.
  • To identify individuals from under-represented groups with rare or de novo CFTR variants.

Main Methods:

  • Implemented an expanded Agena 74-variant panel and NGS for second and third-tier CF NBS testing.
  • Analyzed referral data and CF case identification rates before and after NGS implementation (2019-2024).
  • Compared CF diagnoses with Cystic Fibrosis Related Metabolic Syndrome/CF Screen Positive, Inconclusive Diagnosis (CRMS/CFSPID) cases.

Main Results:

  • Referrals to CF NBS centers nearly tripled post-NGS implementation, with most for single variants unlikely to cause CF.
  • The number of confirmed CF cases remained stable, while CRMS/CFSPID cases significantly increased.
  • NGS implementation increased identification of CFTR variants, leading to higher workload and referrals.

Conclusions:

  • Enhanced NGS in Florida's CF NBS program increased variant detection and referrals, particularly for single variants with low CF likelihood.
  • The rise in CRMS/CFSPID cases suggests a link to complex heterozygous variants rather than abnormal sweat tests.
  • Recommendations include refining NBS algorithms and handling of single-variant results to optimize healthcare utilization and avoid unnecessary referrals.