Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial.

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Title: Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial.
Authors: Reimers R; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Bailey M; Rocket Pharmaceuticals, Cranbury, New Jersey, USA., Brown C; The University of Tennessee Health Science Center College of Medicine Memphis, Memphis, Tennessee, USA., Chan K; ValueMinded LLC, Milwaukee, Wisconsin, USA., Defay T; Alexion Pharmaceuticals Inc, Boston, Massachusetts, USA., Finkel T; The University of Tennessee Health Science Center College of Medicine Memphis, Memphis, Tennessee, USA., Kahn S; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Protopsaltis L; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Stoddard L; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Talati AJ; The University of Tennessee Health Science Center College of Medicine Memphis, Memphis, Tennessee, USA., Wigby K; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Akil ASA; Sidra Medicine, Doha, Qatar., Wright M; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Kingsmore SF; Rady Children's Institute for Genomic Medicine, San Diego, California, USA skingsmore@rchsd.org.
Corporate Authors: BeginNGS Consortium
Source: BMJ open [BMJ Open] 2025 Nov 13; Vol. 15 (11), pp. e098609. Date of Electronic Publication: 2025 Nov 13.
Publication Type: Adaptive Clinical Trial; Journal Article
Journal Info: Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-6055 (Electronic) Linking ISSN: 20446055 NLM ISO Abbreviation: BMJ Open Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial.
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  Data: <searchLink fieldCode="AU" term="%22Reimers+R%22">Reimers R</searchLink>; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Bailey+M%22">Bailey M</searchLink>; Rocket Pharmaceuticals, Cranbury, New Jersey, USA.<br /><searchLink fieldCode="AU" term="%22Brown+C%22">Brown C</searchLink>; The University of Tennessee Health Science Center College of Medicine Memphis, Memphis, Tennessee, USA.<br /><searchLink fieldCode="AU" term="%22Chan+K%22">Chan K</searchLink>; ValueMinded LLC, Milwaukee, Wisconsin, USA.<br /><searchLink fieldCode="AU" term="%22Defay+T%22">Defay T</searchLink>; Alexion Pharmaceuticals Inc, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Finkel+T%22">Finkel T</searchLink>; The University of Tennessee Health Science Center College of Medicine Memphis, Memphis, Tennessee, USA.<br /><searchLink fieldCode="AU" term="%22Kahn+S%22">Kahn S</searchLink>; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Protopsaltis+L%22">Protopsaltis L</searchLink>; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Stoddard+L%22">Stoddard L</searchLink>; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Talati+AJ%22">Talati AJ</searchLink>; The University of Tennessee Health Science Center College of Medicine Memphis, Memphis, Tennessee, USA.<br /><searchLink fieldCode="AU" term="%22Wigby+K%22">Wigby K</searchLink>; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Akil+ASA%22">Akil ASA</searchLink>; Sidra Medicine, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Wright+M%22">Wright M</searchLink>; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Kingsmore+SF%22">Kingsmore SF</searchLink>; Rady Children's Institute for Genomic Medicine, San Diego, California, USA skingsmore@rchsd.org.
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  Data: <searchLink fieldCode="CA" term="%22BeginNGS+Consortium%22">BeginNGS Consortium</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22101552874%22">BMJ open</searchLink> [BMJ Open] 2025 Nov 13; Vol. 15 (11), pp. e098609. <i>Date of Electronic Publication: </i>2025 Nov 13.
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  Data: Adaptive Clinical Trial; Journal Article
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BMJ+Publishing+Group+Ltd%22">BMJ Publishing Group Ltd </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101552874 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2044-6055 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220446055%22">20446055 </searchLink><i>NLM ISO Abbreviation: </i>BMJ Open <i>Subsets: </i>MEDLINE
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              Text: 2025 Nov 13
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