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?
Open accessAbstract
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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Genetic diagnostics are increasingly used in newborn screening as a reflex test after an abnormal screening result.
“Genetic diagnostics are also increasingly applied to newborn screening as a reflex test following an abnormal (for example, metabolic) screening test143.”
From A brief history of human disease genetics (2020) · cites this paper as [143]
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A brief history of human disease genetics
Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature · doi:10.1038/s41586-019-1879-7 · Cited by 697 · see citing works
- Authors
- Currier, R. J., Sciortino, S., Liu, R., Bishop, T., Alikhani Koupaei, R., & Feuchtbaum, L.
- Affiliations
- California Department of Public Health (US)
- Corresponding author
- Currier, Robert J
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2017-10
- Volume
- 19
- Issue
- 10
- Pages
- 1159-1163
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2610594830
- Cited by
- 35
- References
- 14
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 4 · 2023: 3 · 2022: 3 · 2021: 7 · 2020: 7 · 2019: 4 · 2018: 4
- FWCI
- 3.39
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- cystic fibrosis, newborn screening, CFTR mutations, immunoreactive trypsinogen, sweat test, multi-ethnic population, California
- MeSH terms
- Whole Genome Sequencing, Algorithms, Base Sequence, Chromosome Mapping, Cystic Fibrosis, Female, Genetic Testing, Heterozygote, Humans, Infant, Newborn, Male, Mutation, Neonatal Screening, Cystic Fibrosis Transmembrane Conductance Regulator, Genomics
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