{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T22:23:33Z","timestamp":1791498213952,"version":"4.3.4"},"reference-count":41,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T00:00:00Z","timestamp":1758844800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000897","name":"Cystic Fibrosis Foundation","doi-asserted-by":"publisher","award":["LINNEM22Q10"],"award-info":[{"award-number":["LINNEM22Q10"]}],"id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000897","name":"Cystic Fibrosis Foundation","doi-asserted-by":"publisher","award":["OLIVER22A0-KB"],"award-info":[{"award-number":["OLIVER22A0-KB"]}],"id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000897","name":"Cystic Fibrosis Foundation","doi-asserted-by":"publisher","award":["TRUITT21B0"],"award-info":[{"award-number":["TRUITT21B0"]}],"id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["R00HL151965"],"award-info":[{"award-number":["R00HL151965"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["www.mdpi.com"],"crossmark-restriction":true},"short-container-title":["IJNS"],"abstract":"<jats:p>Cystic fibrosis (CF) newborn screening (NBS) aims to improve outcomes through early diagnosis, yet disparities in time to diagnosis remain. This study examines CFTR allele frequencies and variant panel performance among a diverse CF population in Georgia to inform recommendations for updating the NBS algorithm and improving equity. This cross-sectional study includes 969 people with CF (PwCF) from Georgia\u2019s accredited CF centers. CFTR variant frequencies were calculated according to race and ethnicity. Panel performance was evaluated for Georgia\u2019s current Luminex-39 variant test and three expanded panels. Statistical analyses compared detection rates across panels and demographic groups. Georgia\u2019s diverse CF population demonstrates a unique CFTR allelic variability compared to national data. Increasing panel size enhances case identification. A panel including 719 CF-causing variants from the CFTR2 database significantly improves case detection from 93% to 97% (p = 0.002), as well as two-variant detection from 69% to 86% (p &lt; 0.001). Detection of minoritized PwCF also improves with increasing panel size. However, even using the 719-variant panel, detection of non-Hispanic Black PwCF remains significantly lower compared to non-Hispanic White PwCF (case detection: p = 0.003; two-variant detection: p &lt; 0.001). In conclusion, the use of expanded CFTR panels for NBS in Georgia would enhance timely diagnosis and improve equity.<\/jats:p>","DOI":"10.3390\/ijns11040085","type":"journal-article","created":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T12:33:03Z","timestamp":1758889983000},"page":"85","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["CFTR Variant Frequencies and Newborn Screening Panel Performance in the Diverse CF Population Receiving Care in the State of Georgia"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6330-4680","authenticated-orcid":false,"given":"Eileen","family":"Barr","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Emory University, Atlanta, GA 30322, USA"},{"name":"Children\u2019s Healthcare of Atlanta, Atlanta, GA 30329, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brittany","family":"Truitt","sequence":"additional","affiliation":[{"name":"Children\u2019s Healthcare of Atlanta, Atlanta, GA 30329, USA"},{"name":"Department of Pediatrics, Emory University, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-4915-462X","authenticated-orcid":false,"given":"Andrew","family":"Jergel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Emory University, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shasha","family":"Bai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Emory University, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"McKie","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Augusta University, Augusta, GA 30912, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0423-2557","authenticated-orcid":false,"given":"Rossana","family":"Sanchez Russo","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Emory University, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7781-7006","authenticated-orcid":false,"given":"Kathryn E.","family":"Oliver","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Emory University, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6839-0936","authenticated-orcid":false,"given":"Rachel W.","family":"Linnemann","sequence":"additional","affiliation":[{"name":"Children\u2019s Healthcare of Atlanta, Atlanta, GA 30329, USA"},{"name":"Department of Pediatrics, Emory University, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2519","DOI":"10.1016\/S0140-6736(16)00576-6","article-title":"Cystic fibrosis","volume":"388","author":"Elborn","year":"2016","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/nrg3849","article-title":"Cystic fibrosis genetics: From molecular understanding to clinical application","volume":"16","author":"Cutting","year":"2015","journal-title":"Nat. Rev. Genet."},{"key":"ref_3","unstructured":"Cystic Fibrosis Foundation (2022). Cystic Fibrosis Foundation Patient Registry 2022 Annual Data Report, Cystic Fibrosis Foundation."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1001\/jamapediatrics.2022.2674","article-title":"Real-world Associations of US Cystic Fibrosis Newborn Screening Programs With Nutritional and Pulmonary Outcomes","volume":"176","author":"Rosenfeld","year":"2022","journal-title":"JAMA Pediatr."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1542\/peds.107.1.1","article-title":"Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group","volume":"107","author":"Farrell","year":"2001","journal-title":"Pediatrics"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1136\/archdischild-2011-300449","article-title":"Improved survival in cystic fibrosis patients diagnosed by newborn screening compared to a historical cohort from the same centre","volume":"96","author":"Dijk","year":"2011","journal-title":"Arch. Dis. Child."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1002\/ppul.26279","article-title":"Variation in cystic fibrosis newborn screening algorithms in the United States","volume":"58","author":"Rehani","year":"2023","journal-title":"Pediatr. Pulmonol."},{"key":"ref_8","unstructured":"Luminex (2024, July 08). xTAG Cystic Fibrosis Assays Mutations by Kit. Available online: https:\/\/www.luminexcorp.com\/cystic-fibrosis\/#documentation."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1038\/gim.2014.209","article-title":"Improving newborn screening for cystic fibrosis using next-generation sequencing technology: A technical feasibility study","volume":"18","author":"Baker","year":"2016","journal-title":"Genet. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"S4","DOI":"10.1016\/j.jpeds.2016.09.064","article-title":"Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation","volume":"181S","author":"Farrell","year":"2017","journal-title":"J. Pediatr."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1002\/ppul.26209","article-title":"Detection of disease-causing CFTR variants in state newborn screening programs","volume":"58","author":"McGarry","year":"2023","journal-title":"Pediatr. Pulmonol."},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Sicko, R.J., Stevens, C.F., Hughes, E.E., Leisner, M., Ling, H., Saavedra-Matiz, C.A., Caggana, M., and Kay, D.M. (2021). Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7040073"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1016\/j.jmoldx.2013.05.006","article-title":"Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California","volume":"15","author":"Prach","year":"2013","journal-title":"J. Mol. Diagn."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Furnier, S.M., Durkin, M.S., and Baker, M.W. (2020). Translating Molecular Technologies into Routine Newborn Screening Practice. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6040080"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1002\/humu.22927","article-title":"Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population","volume":"37","author":"Hughes","year":"2016","journal-title":"Hum. Mutat."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1542\/peds.2015-0811","article-title":"Newborn Screening for Cystic Fibrosis in California","volume":"136","author":"Kharrazi","year":"2015","journal-title":"Pediatrics"},{"key":"ref_17","first-page":"100344","article-title":"Racial inequities and rare","volume":"36","author":"Wu","year":"2024","journal-title":"J. Clin. Transl. Endocrinol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2901","DOI":"10.1002\/ppul.27155","article-title":"Improved detection of cystic fibrosis by the California Newborn Screening Program for all races and ethnicities","volume":"59","author":"McGarry","year":"2024","journal-title":"Pediatr. Pulmonol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.jpeds.2017.01.049","article-title":"Psychosocial Response to Uncertain Newborn Screening Results for Cystic Fibrosis","volume":"184","author":"Hayeems","year":"2017","journal-title":"J. Pediatr."},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Johnson, F., Southern, K.W., and Ulph, F. (2019). Psychological Impact on Parents of an Inconclusive Diagnosis Following Newborn Bloodspot Screening for Cystic Fibrosis: A Qualitative Study. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5020023"},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"DeCelie-Germana, J.K., Bonitz, L., Langfelder-Schwind, E., Kier, C., Diener, B.L., and Berdella, M. (2023). Diagnostic and Communication Challenges in Cystic Fibrosis Newborn Screening. Life, 13.","DOI":"10.3390\/life13081646"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1097\/MCP.0000000000001005","article-title":"Health inequities in the modulator era","volume":"29","author":"Palla","year":"2023","journal-title":"Curr. Opin. Pulm. Med."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1496","DOI":"10.1002\/ppul.25285","article-title":"Cystic fibrosis patients of minority race and ethnicity less likely eligible for CFTR modulators based on CFTR genotype","volume":"56","author":"McGarry","year":"2021","journal-title":"Pediatr. Pulmonol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.jcf.2022.07.010","article-title":"Disparities in first evaluation of infants with cystic fibrosis since implementation of newborn screening","volume":"22","author":"McColley","year":"2023","journal-title":"J. Cyst. Fibros."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"113595","DOI":"10.1016\/j.jpeds.2023.113595","article-title":"Late Diagnosis in the Era of Universal Newborn Screening Negatively Affects Short- and Long-Term Growth and Health Outcomes in Infants with Cystic Fibrosis","volume":"262","author":"Martiniano","year":"2023","journal-title":"J. Pediatr."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.1542\/peds.113.6.1573","article-title":"Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: A cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections","volume":"113","author":"Comeau","year":"2004","journal-title":"Pediatrics"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1002\/jgc4.1271","article-title":"The CFTR variant profile of Hispanic patients with cystic fibrosis: Impact on access to effective screening, diagnosis, and personalized medicine","volume":"29","author":"Januska","year":"2020","journal-title":"J. Genet. Couns."},{"key":"ref_28","unstructured":"United States Census Bureau (2022, April 17). 2020 United States Census, Available online: https:\/\/www.census.gov\/."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1513\/AnnalsATS.201511-781OC","article-title":"The Cystic Fibrosis Foundation Patient Registry. Design and Methods of a National Observational Disease Registry","volume":"13","author":"Knapp","year":"2016","journal-title":"Ann. Am. Thorac. Soc."},{"key":"ref_30","unstructured":"Cystic Fibrosis Foundation (2021). Cystic Fibrosis Foundation Patient Registry 2021 Annual Data Report, Cystic Fibrosis Foundation."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1038\/ng.2745","article-title":"Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene","volume":"45","author":"Sosnay","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_32","unstructured":"(2024, December 11). The Clinical and Functional TRanslation of CFTR (CFTR2). @Copyright 2011 US CF Foundation, Johns Hopkins University, The Hospital for Sick Children. Available online: http:\/\/cftr2.org."},{"key":"ref_33","unstructured":"Illumina (2024, July 08). Physician Insert: Cystic Fibrosis 139-Variant Assay. Available online: https:\/\/www.illumina.com\/products\/by-type\/ivd-products\/trusight-cystic-fibrosis.html."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1038\/s41436-020-0822-5","article-title":"CFTR variant testing: A technical standard of the American College of Medical Genetics and Genomics (ACMG)","volume":"22","author":"Deignan","year":"2020","journal-title":"Genet. Med."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1002\/ppul.26253","article-title":"Refinement of newborn screening for cystic fibrosis with next generation sequencing","volume":"58","author":"Rock","year":"2023","journal-title":"Pediatr. Pulmonol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: Improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1164\/rccm.201711-2357OC","article-title":"Disparities in Mortality of Hispanic Patients with Cystic Fibrosis in the United States. A National and Regional Cohort Study","volume":"198","author":"Rho","year":"2018","journal-title":"Am. J. Respir. Crit. Care Med."},{"key":"ref_39","doi-asserted-by":"crossref","unstructured":"McGarry, M.E., Raraigh, K.S., Farrell, P., Shropshire, F., Padding, K., White, C., Dorley, M.C., Hicks, S., Ren, C.L., and Tullis, K. (2025). Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation. Int. J. Neonatal Screen., 11.","DOI":"10.3390\/ijns11020024"},{"key":"ref_40","doi-asserted-by":"crossref","unstructured":"Sontag, M.K., Miller, J.I., McKasson, S., Gaviglio, A., Martiniano, S.L., West, R., Vazquez, M., Ren, C.L., Farrell, P.M., and McColley, S.A. (2022). Newborn Screening for Cystic Fibrosis: A Qualitative Study of Successes and Challenges from Universal Screening in the United States. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8030038"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/j.jcf.2021.10.011","article-title":"Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment","volume":"21","author":"Raraigh","year":"2022","journal-title":"J. Cyst. Fibros."}],"container-title":["International Journal of Neonatal Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2409-515X\/11\/4\/85\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T04:38:32Z","timestamp":1759034312000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2409-515X\/11\/4\/85"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,26]]},"references-count":41,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["ijns11040085"],"URL":"https:\/\/doi.org\/10.3390\/ijns11040085","relation":{},"ISSN":["2409-515X"],"issn-type":[{"value":"2409-515X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,26]]}}}