{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T15:54:58Z","timestamp":1790870098595,"version":"4.1.0"},"reference-count":38,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T00:00:00Z","timestamp":1788825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2026,10]]},"DOI":"10.1016\/j.ajhg.2026.09.002","type":"journal-article","created":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T14:46:42Z","timestamp":1790002002000},"page":"2025-2033","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["International experiences of genomic newborn screening: Lessons from over 10,800 newborns"],"prefix":"10.1016","volume":"113","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8640-1371","authenticated-orcid":false,"given":"Zornitza","family":"Stark","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Lunke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Boemer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi L.","family":"Cope","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Curt","family":"Scharfe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Servais","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2026.09.002_bib1","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1038\/s41576-023-00621-w","article-title":"Genomic newborn screening for rare diseases","volume":"24","author":"Stark","year":"2023","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ajhg.2026.09.002_bib2","article-title":"Fit for the Future: 10 Year Health Plan for England","year":"2025","journal-title":"Department of Health and Social Care"},{"key":"10.1016\/j.ajhg.2026.09.002_bib3","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1038\/s41591-024-03465-x","article-title":"Population-based, first-tier genomic newborn screening in the maternity ward","volume":"31","author":"Boemer","year":"2025","journal-title":"Nat. Med."},{"key":"10.1016\/j.ajhg.2026.09.002_bib4","doi-asserted-by":"crossref","first-page":"3762","DOI":"10.1038\/s41591-025-03945-8","article-title":"Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program","volume":"31","author":"Cope","year":"2025","journal-title":"Nat. Med."},{"key":"10.1016\/j.ajhg.2026.09.002_bib5","doi-asserted-by":"crossref","first-page":"4236","DOI":"10.1038\/s41591-025-03986-z","article-title":"Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study","volume":"31","author":"Lunke","year":"2025","journal-title":"Nat. Med."},{"key":"10.1016\/j.ajhg.2026.09.002_bib6","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1001\/jama.2024.19662","article-title":"Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions","volume":"333","author":"Ziegler","year":"2025","journal-title":"JAMA"},{"key":"10.1016\/j.ajhg.2026.09.002_bib7","doi-asserted-by":"crossref","first-page":"1823","DOI":"10.1038\/s41591-024-03055-x","article-title":"Exploring the benefits, harms and costs of genomic newborn screening for rare diseases","volume":"30","author":"Baple","year":"2024","journal-title":"Nat. Med."},{"key":"10.1016\/j.ajhg.2026.09.002_bib8","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/s41431-024-01677-w","article-title":"Genomic sequencing in newborn screening: balancing consent with the right of the asymptomatic at-risk child to be found","volume":"33","author":"Knoppers","year":"2025","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.09.002_bib9","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1186\/s40246-024-00611-x","article-title":"Australian public perspectives on genomic newborn screening: which conditions should be included?","volume":"18","author":"Lynch","year":"2024","journal-title":"Hum. Genom."},{"key":"10.1016\/j.ajhg.2026.09.002_bib10","doi-asserted-by":"crossref","DOI":"10.3390\/ijns10010006","article-title":"Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation","volume":"10","author":"Lynch","year":"2024","journal-title":"Int. J. Neonatal Screen."},{"key":"10.1016\/j.ajhg.2026.09.002_bib11","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.1016\/j.ajhg.2025.05.001","article-title":"Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia","volume":"112","author":"Peters","year":"2025","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.09.002_bib12","doi-asserted-by":"crossref","first-page":"1599","DOI":"10.1038\/s41431-024-01650-7","article-title":"Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework","volume":"32","author":"Tutty","year":"2024","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.09.002_bib13","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2022.891592","article-title":"Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study","volume":"13","author":"Peay","year":"2022","journal-title":"Front. Genet."},{"key":"10.1016\/j.ajhg.2026.09.002_bib14","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1038\/s41436-019-0745-1","article-title":"Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project","volume":"22","author":"Downie","year":"2020","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.09.002_bib15","doi-asserted-by":"crossref","first-page":"926","DOI":"10.3390\/children11080926","article-title":"Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium","volume":"11","author":"Dangouloff","year":"2024","journal-title":"Children"},{"key":"10.1016\/j.ajhg.2026.09.002_bib16","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2024.101290","article-title":"A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation","volume":"26","author":"Cope","year":"2024","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.09.002_bib17","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2024.101077","article-title":"Gene selection for genomic newborn screening: Moving toward consensus?","volume":"26","author":"Downie","year":"2024","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.09.002_bib18","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2025.101443","article-title":"Data-driven consideration of genetic disorders for global genomic newborn screening programs","volume":"27","author":"Minten","year":"2025","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.09.002_bib19","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2025.101624","article-title":"What do we mean by actionability? Examining a key criterion in genomic prenatal and newborn screening","volume":"28","author":"Phillips","year":"2026","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.09.002_bib20","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1038\/s41431-025-02009-2","article-title":"Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort","volume":"34","author":"Bylstra","year":"2026","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.09.002_bib21","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2025.101618","article-title":"Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing","volume":"28","author":"Downie","year":"2026","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.09.002_bib22","doi-asserted-by":"crossref","first-page":"62","DOI":"10.3390\/ijns10030062","article-title":"Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?","volume":"10","author":"Schnabel-Besson","year":"2024","journal-title":"Int. J. Neonatal Screen."},{"key":"10.1016\/j.ajhg.2026.09.002_bib23","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1038\/s41576-024-00776-0","article-title":"A call to action to scale up research and clinical genomic data sharing","volume":"26","author":"Stark","year":"2025","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ajhg.2026.09.002_bib24","doi-asserted-by":"crossref","first-page":"42","DOI":"10.3390\/ijns10030042","article-title":"The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges","volume":"10","author":"Ashenden","year":"2024","journal-title":"Int. J. Neonatal Screen."},{"key":"10.1016\/j.ajhg.2026.09.002_bib25","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2025.101532","article-title":"Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study","volume":"27","author":"Kaplanis","year":"2025","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.09.002_bib26","doi-asserted-by":"crossref","first-page":"2618","DOI":"10.1016\/j.ajhg.2024.10.021","article-title":"Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection","volume":"111","author":"Kingsmore","year":"2024","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.09.002_bib27","doi-asserted-by":"crossref","first-page":"91","DOI":"10.3390\/ijns11040091","article-title":"Analytical Validation of a Genomic Newborn Screening Workflow","volume":"11","author":"Hovhannesyan","year":"2025","journal-title":"Int. J. Neonatal Screen."},{"key":"10.1016\/j.ajhg.2026.09.002_bib28","doi-asserted-by":"crossref","first-page":"1681","DOI":"10.1038\/s41591-023-02401-9","article-title":"Integrated multi-omics for rapid rare disease diagnosis on a national scale","volume":"29","author":"Lunke","year":"2023","journal-title":"Nat. Med."},{"key":"10.1016\/j.ajhg.2026.09.002_bib29","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1016\/j.ajhg.2021.05.008","article-title":"Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care","volume":"108","author":"Dimmock","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.09.002_bib30","doi-asserted-by":"crossref","first-page":"615","DOI":"10.2471\/BLT.23.291224","article-title":"New WHO classification of genetic variants causing G6PD deficiency","volume":"102","author":"Luzzatto","year":"2024","journal-title":"Bull. World Health Organ."},{"key":"10.1016\/j.ajhg.2026.09.002_bib31","first-page":"601","article-title":"Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group","volume":"67","year":"1989","journal-title":"Bull. World Health Organ."},{"key":"10.1016\/j.ajhg.2026.09.002_bib32","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2025-072850","article-title":"Outcomes of Universal Newborn G6PD Deficiency Screening in a Large Urban Cohort","volume":"157","author":"Dalldorf","year":"2026","journal-title":"Pediatrics"},{"key":"10.1016\/j.ajhg.2026.09.002_bib33","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1038\/jp.2010.69","article-title":"Implementation and analysis of a pilot in-hospital newborn screening program for glucose-6-phosphate dehydrogenase deficiency in the United States","volume":"31","author":"Nock","year":"2011","journal-title":"J. Perinatol."},{"key":"10.1016\/j.ajhg.2026.09.002_bib34","doi-asserted-by":"crossref","first-page":"1362","DOI":"10.3390\/children10081362","article-title":"Parental Preferences for Expanded Newborn Screening: What Are the Limits?","volume":"10","author":"Liang","year":"2023","journal-title":"Children"},{"key":"10.1016\/j.ajhg.2026.09.002_bib35","doi-asserted-by":"crossref","DOI":"10.1002\/jgc4.1994","article-title":"Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns","volume":"34","author":"Gold","year":"2025","journal-title":"J. Genet. Counsel."},{"key":"10.1016\/j.ajhg.2026.09.002_bib36","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2026.102611","article-title":"Development and content validation of the Clinician-reported Genetic testing Utility InDEx for genomic newborn screening (C-GUIDE NBS)","volume":"28","author":"Shickh","year":"2026","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.09.002_bib37","article-title":"Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing","volume":"26","author":"Smith","year":"2024","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.09.002_bib38","doi-asserted-by":"crossref","DOI":"10.1038\/s41431-026-02192-w","article-title":"Scaling up genomic newborn screening: implementation lessons from the BabyScreen+ study","author":"Kugenthiran","year":"2026","journal-title":"Eur. J. Hum. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929726003435?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929726003435?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T15:02:54Z","timestamp":1790866974000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929726003435"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10]]},"references-count":38,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["S0002929726003435"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2026.09.002","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2026,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"International experiences of genomic newborn screening: Lessons from over 10,800 newborns","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2026.09.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Inc. on behalf of American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}