{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T17:00:11Z","timestamp":1792515611267,"version":"4.5.0"},"reference-count":40,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2024,12,10]]},"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Targeted cystic fibrosis (CF) carrier screening panels may lack sensitivity in non-European ancestry groups. This study aims to evaluate the sensitivity of various panels in Australian CF carriers identified through sequencing.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>The following panels were evaluated in 869 CF carriers: Asuragen, Elucigene, Devyser, American College of Medical Genetics and Genomics and Victorian Clinical Genetics Services. Ancestry-specific CF carrier frequencies from population databases and Bayesian analysis were used to estimate post-test residual carrier risks.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>When variants with varying clinical consequences (VCC) were not considered, mean test sensitivity was highest in the Northern Europe group (95.6%) and lowest in the Southern Asia group (64.0%). The post-test residual carrier risk in the Northern Europe group was approximately 1 in 546, with only the Southern Asia group having a higher residual carrier risk of 1 in 179.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>The Southern Asia group exhibited the lowest test sensitivity and the highest post-test residual carrier risk, surpassing that of the Northern Europe group. The inclusion or exclusion of VCC significantly impacted the calculated test sensitivities. Further research is suggested to better characterise <jats:italic>CFTR<\/jats:italic> variants in non-European ancestry groups and to determine which VCC, if any, should be included in carrier screening reports.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2024-110365","type":"journal-article","created":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T13:20:37Z","timestamp":1735651237000},"page":"219-226","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries"],"prefix":"10.1136","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4219-1648","authenticated-orcid":false,"given":"Eric","family":"Lee","sequence":"first","affiliation":[{"name":"Molecular Genetics, Virtus Diagnostics, Revesby, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaylee","family":"Orton","sequence":"additional","affiliation":[{"name":"Molecular Genetics, Virtus Diagnostics, Revesby, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,12,31]]},"reference":[{"key":"2025101711570126000_62.3.219.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2016.09.064"},{"key":"2025101711570126000_62.3.219.2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0525-y"},{"key":"2025101711570126000_62.3.219.3","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.52"},{"key":"2025101711570126000_62.3.219.4","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.26209"},{"key":"2025101711570126000_62.3.219.5","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12396"},{"key":"2025101711570126000_62.3.219.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.100867"},{"key":"2025101711570126000_62.3.219.7","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000139511.83336.8F"},{"key":"2025101711570126000_62.3.219.8","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6285"},{"key":"2025101711570126000_62.3.219.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.06.009"},{"key":"2025101711570126000_62.3.219.10","doi-asserted-by":"crossref","DOI":"10.1016\/j.lansea.2024.100434","article-title":"CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south India","volume":"27","author":"Varkki","year":"2024","journal-title":"Lancet Reg Health Southeast Asia"},{"key":"2025101711570126000_62.3.219.11","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.prrv.2013.01.006","article-title":"CFTR2: How will it help care?","volume":"14 Suppl 1","author":"Castellani","year":"2013","journal-title":"Paediatr Respir Rev"},{"key":"2025101711570126000_62.3.219.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2016.09.063"},{"key":"2025101711570126000_62.3.219.13","doi-asserted-by":"publisher","DOI":"10.1080\/02770903.2023.2297365"},{"key":"2025101711570126000_62.3.219.14","doi-asserted-by":"crossref","DOI":"10.3389\/fphar.2023.1163391","article-title":"Real-world disparities and ethical considerations with access to CFTR modulator drugs: Mind the gap!","volume":"14","author":"Zampoli","year":"2023","journal-title":"Front Pharmacol"},{"key":"2025101711570126000_62.3.219.15","doi-asserted-by":"crossref","DOI":"10.1007\/s12038-024-00456-5","article-title":"Diagnosis and treatment of cystic fibrosis in India: What is at stake for developing countries?","volume":"49","author":"Purushothaman","year":"2024","journal-title":"J Biosci"},{"key":"2025101711570126000_62.3.219.16","first-page":"35","article-title":"Left behind: The potential impact of CFTR modulators on racial and ethnic disparities in cystic fibrosis","volume":"42","author":"McGarry","year":"2022","journal-title":"Paediatr Respir Rev"},{"key":"2025101711570126000_62.3.219.17","unstructured":"World health organization . 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