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Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing.

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Title: Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing.
Authors: Downie L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Australia., Yeo J; Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA., Minten T; KU Leuven, Leuven, Belgium., Heald R; Division of Genetics, Department of Medicine, Mass General Brigham, Boston, MA; Ariadne Labs, Boston, MA., Ansel D; Worldwide Clinical Trials, Research Triangle Park, NC., Baker M; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI., Balciuniene J; Revvity Omics, Waltham, MA., Berg JS; The University of North Carolina at Chapel Hill, Chapel Hill, NC., Boemer F; CHU Liège, University of Liège, Liège, Belgium., Chung WK; Department of Pediatrics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA., Cope HL; RTI International GenOmics and Translational Research Center, Research Triangle Park, NC., Eckstein DJ; Office of Clinical Research Education and Collaboration Outreach, Office of the Director, NIH, Bethesda, MD., Encina N; Ariadne Labs, Boston, MA; Harvard T.H. Chan School of Public Health, Boston, MA., Faivre L; Genetics Center, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UMR1231 INSERM, GAD team, Bourgogne University, Dijon, France., Ferlini A; Medical Genetics Unit, Department of Medical Genetics, University of Ferrara, Ferrara, Italy., García-Villoria J; Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Gelb MH; Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA., González De Aledo-Castillo JM; Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain., Golden-Grant K; Rady Children's Institute for Genomic Medicine, San Diego, CA., Parad RB; Harvard Medical School, Boston, MA; Department of Pediatrics, Brigham and Women's Hospital, Boston, MA., Shah N; Dartmouth Health Children's, Lebanon, NH; Geisel School of Medicine, Hanover, NH., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Australia., Sund KL; Nurture Genomics, Cambridge, MA., Tsipouras P; FirstSteps, National gNBS Initiative, Greece., To M; Genomics England Limited, London, England, United Kingdom., Bick D; Genomics England Limited, London, England, United Kingdom., Green RC; Ariadne Labs, Boston, MA; Harvard Medical School, Boston, MA; Mass General Brigham, Boston, MA; Broad Institute, Boston, MA., Gold NB; Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA. Electronic address: ngold@mgh.harvard.edu.
Corporate Authors: International Consortium on Newborn Sequencing
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jan; Vol. 28 (1), pp. 101618. Date of Electronic Publication: 2025 Oct 24.
Publication Type: Consensus Statement; Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Downie+L%22">Downie L</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Yeo+J%22">Yeo J</searchLink>; Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Minten+T%22">Minten T</searchLink>; KU Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Heald+R%22">Heald R</searchLink>; Division of Genetics, Department of Medicine, Mass General Brigham, Boston, MA; Ariadne Labs, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Ansel+D%22">Ansel D</searchLink>; Worldwide Clinical Trials, Research Triangle Park, NC.<br /><searchLink fieldCode="AU" term="%22Baker+M%22">Baker M</searchLink>; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI.<br /><searchLink fieldCode="AU" term="%22Balciuniene+J%22">Balciuniene J</searchLink>; Revvity Omics, Waltham, MA.<br /><searchLink fieldCode="AU" term="%22Berg+JS%22">Berg JS</searchLink>; The University of North Carolina at Chapel Hill, Chapel Hill, NC.<br /><searchLink fieldCode="AU" term="%22Boemer+F%22">Boemer F</searchLink>; CHU Liège, University of Liège, Liège, Belgium.<br /><searchLink fieldCode="AU" term="%22Chung+WK%22">Chung WK</searchLink>; Department of Pediatrics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Cope+HL%22">Cope HL</searchLink>; RTI International GenOmics and Translational Research Center, Research Triangle Park, NC.<br /><searchLink fieldCode="AU" term="%22Eckstein+DJ%22">Eckstein DJ</searchLink>; Office of Clinical Research Education and Collaboration Outreach, Office of the Director, NIH, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Encina+N%22">Encina N</searchLink>; Ariadne Labs, Boston, MA; Harvard T.H. Chan School of Public Health, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; Genetics Center, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UMR1231 INSERM, GAD team, Bourgogne University, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Ferlini+A%22">Ferlini A</searchLink>; Medical Genetics Unit, Department of Medical Genetics, University of Ferrara, Ferrara, Italy.<br /><searchLink fieldCode="AU" term="%22García-Villoria+J%22">García-Villoria J</searchLink>; Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Gelb+MH%22">Gelb MH</searchLink>; Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA.<br /><searchLink fieldCode="AU" term="%22González+De+Aledo-Castillo+JM%22">González De Aledo-Castillo JM</searchLink>; Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Golden-Grant+K%22">Golden-Grant K</searchLink>; Rady Children's Institute for Genomic Medicine, San Diego, CA.<br /><searchLink fieldCode="AU" term="%22Parad+RB%22">Parad RB</searchLink>; Harvard Medical School, Boston, MA; Department of Pediatrics, Brigham and Women's Hospital, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Shah+N%22">Shah N</searchLink>; Dartmouth Health Children's, Lebanon, NH; Geisel School of Medicine, Hanover, NH.<br /><searchLink fieldCode="AU" term="%22Stark+Z%22">Stark Z</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Sund+KL%22">Sund KL</searchLink>; Nurture Genomics, Cambridge, MA.<br /><searchLink fieldCode="AU" term="%22Tsipouras+P%22">Tsipouras P</searchLink>; FirstSteps, National gNBS Initiative, Greece.<br /><searchLink fieldCode="AU" term="%22To+M%22">To M</searchLink>; Genomics England Limited, London, England, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bick+D%22">Bick D</searchLink>; Genomics England Limited, London, England, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Green+RC%22">Green RC</searchLink>; Ariadne Labs, Boston, MA; Harvard Medical School, Boston, MA; Mass General Brigham, Boston, MA; Broad Institute, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Gold+NB%22">Gold NB</searchLink>; Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA. Electronic address: ngold@mgh.harvard.edu.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2026 Jan; Vol. 28 (1), pp. 101618. <i>Date of Electronic Publication: </i>2025 Oct 24.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE
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