ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing?
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation.International journal of neonatal screening · 2025Guideline
- Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies.Journal of human immunity · 2026Article
- CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA.Genetics in medicine open · 2025Article
- Improved detection of cystic fibrosis by the California Newborn Screening Program for all races and ethnicities.Pediatric pulmonology · 2024Article
- Racial inequities and rareJournal of clinical & translational endocrinology · 2024Article
- Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.International journal of neonatal screening · 2024Article
- Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.Annals of clinical and translational neurology · 2023Article
- Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?European journal of human genetics : EJHG · 2023Article
- CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.JCI insight · 2022Article
- Evaluating Differences in the Disease Experiences of Minority Adults With Cystic Fibrosis.Journal of patient experience · 2022Article
- Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.International journal of neonatal screening · 2021Article
- Primary care providers' role in newborn screening result notification for cystic fibrosis.Canadian family physician Medecin de famille canadien · 2021Article
- Racially equitable diagnosis of cystic fibrosis using next-generation DNA sequencing: a case report.BMC pediatrics · 2021Article
- Translating Molecular Technologies into Routine Newborn Screening Practice.International journal of neonatal screening · 2020Review
- Targeted next generation sequencing for newborn screening of Menkes disease.Molecular genetics and metabolism reports · 2020Article
- Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.International journal of neonatal screening · 2020Article
- The Role of ExtendedInternational journal of neonatal screening · 2020Review
- Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism.International journal of molecular sciences · 2020Review
- Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.Scientific data · 2020Article
- A brief history of human disease genetics.Nature · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeThe purpose of this study was to model the performance of several known two-tier, predefined mutation panels and three-tier algorithms for cystic fibrosis (CF) screening utilizing the ethnically diverse California population.MethodsThe cystic fibrosis transmembrane conductance regulator (CFTR) mutations identified among the 317 CF cases in California screened between 12 August 2008 and 18 December 2012 were used to compare the expected CF detection rates for several two- and three-tier screening approaches, including the current California approach, which consists of a population-specific 40-mutation panel followed by third-tier sequencing when indicated.ResultsThe data show that the strategy of using third-tier sequencing improves CF detection following an initial elevated immunoreactive trypsinogen and detection of only one mutation on a second-tier panel.ConclusionIn a diverse population, the use of a second-tier panel followed by third-tier CFTR gene sequencing provides a better detection rate for CF, compared with the use of a second-tier approach alone, and is an effective way to minimize the referrals of CF carriers for sweat testing. Restricting screening to a second-tier testing to predefined mutation panels, even broad ones, results in some missed CF cases and demonstrates the limited utility of this approach in states that have diverse multiethnic populations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.