{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T14:19:17Z","timestamp":1770301157967,"version":"3.49.0"},"reference-count":33,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2024,4,8]],"date-time":"2024-04-08T00:00:00Z","timestamp":1712534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"NHS England\/Department of Health and Social Care","award":["CFNGS"],"award-info":[{"award-number":["CFNGS"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>There is increasing interest in using extended genetic sequencing (EGS) in newborn screening (NBS) for cystic fibrosis (CF). How this is implemented will change the number of children being given an uncertain outcome of CRMS\/CFSPID (cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome\/CF Screen Positive Inconclusive Diagnosis), probable carrier results, and the number of missed CF diagnoses. An international survey of CF health professionals was used to gather views on two approaches to EGS\u2014specific (may reduce detection of CRMS\/CFSID but miss some CF cases) versus sensitive (may increase detection of CRMS\/CFSPID but avoid missing more CF cases). Health professionals acknowledged the anxiety caused to parents (and health professionals) from the uncertainty surrounding the prognosis and management of CRMS\/CFSPID. However, most preferred the sensitive approach, as overall, identifying more cases of CRMS\/CFSPID was viewed as less physically and psychologically damaging than a missed case of CF. The importance of early diagnosis and treatment for CF to ensure better health outcomes and reducing diagnostic odysseys for parents were highlighted. A potential benefit to identifying more children with CRMS\/CFSPID included increasing knowledge to obtain a better understanding of how these children should best be managed in the future.<\/jats:p>","DOI":"10.3390\/ijns10020031","type":"journal-article","created":{"date-parts":[[2024,4,8]],"date-time":"2024-04-08T12:01:22Z","timestamp":1712577682000},"page":"31","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1077-9383","authenticated-orcid":false,"given":"Corinna C. A.","family":"Clark","sequence":"first","affiliation":[{"name":"Warwick Medical School, Warwick University, Coventry CV4 7AL, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1036-978X","authenticated-orcid":false,"given":"Pru","family":"Holder","sequence":"additional","affiliation":[{"name":"Florence Nightingale Faculty of Nursing, Midwifery & Palliative Care, King\u2019s College London, London SE5 9PJ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3268-6276","authenticated-orcid":false,"given":"Felicity K.","family":"Boardman","sequence":"additional","affiliation":[{"name":"Warwick Medical School, Warwick University, Coventry CV4 7AL, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2326-4124","authenticated-orcid":false,"given":"Louise","family":"Moody","sequence":"additional","affiliation":[{"name":"Centre for Arts, Memory and Communities, Coventry University, Coventry CV1 5FB, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqui","family":"Cowlard","sequence":"additional","affiliation":[{"name":"Paediatric Respiratory Medicine, Royal London Children\u2019s Hospital, London E1 1FR, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorna","family":"Allen","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Trust, London EC3N 1RE, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Walter","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Trust, London EC3N 1RE, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-9485-6754","authenticated-orcid":false,"given":"James R.","family":"Bonham","sequence":"additional","affiliation":[{"name":"Pharmacy, Diagnostics and Genetics, Sheffield Children\u2019s NHS Foundation Trust, Sheffield S10 2TH, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7334-8708","authenticated-orcid":false,"given":"Jane","family":"Chudleigh","sequence":"additional","affiliation":[{"name":"Florence Nightingale Faculty of Nursing, Midwifery & Palliative Care, King\u2019s College London, London SE5 9PJ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.jcf.2016.12.012","article-title":"The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe","volume":"16","author":"Barben","year":"2017","journal-title":"J. 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