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

Kee Chan (ORCID: https://orcid.org/0000-0002-8757-2241)
Ajay J. Talati (ORCID: https://orcid.org/0000-0003-1798-9970)
Rebecca Reimers (ORCID: https://orcid.org/0000-0001-8922-0015)
Scott D. Kahn
Chester Brown (ORCID: https://orcid.org/0000-0003-2828-7616)
Terri Helman Finkel (ORCID: https://orcid.org/0000-0002-2065-8948)
M. Bailey
Stephen F. Kingsmore (ORCID: https://orcid.org/0000-0001-7180-2527)
Kristen M. Wigby (ORCID: https://orcid.org/0000-0001-8952-3534)
Tom Defay
Ammira Al‐Shabeeb Akil (ORCID: https://orcid.org/0000-0001-5381-070X)
Liana Protopsaltis
Meredith S. Wright
Lauren Stoddard

Institutions

Children’s Institute (US)
University of Tennessee Health Science Center (US)
Alexion Pharmaceuticals (United States) (US)
Sunesis (United States) (US)

Publication Details

Journal: BMJ Open
Published: 2025-11-01
DOI: https://doi.org/10.1136/bmjopen-2024-098609
Citations: 4
Primary Topic: Genomics and Rare Diseases
Type: article
Field-Weighted Citation Impact: 7.27

Funders

Amgen
AstraZeneca
Sanofi
Alexion Pharmaceuticals
Ultragenyx Pharmaceutical
Ionis Pharmaceuticals
Sarepta Therapeutics
Inozyme Pharma
National Institutes of Health
University of California, San Diego
National Center for Advancing Translational Sciences

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article

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

Kee Chan, Ajay J. Talati, Rebecca Reimers, Scott D. Kahn et al.

Nov 1, 2025

4 citations

BMJ Open

Genomics and Rare Diseases

7.27

article

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

Kee Chan, Ajay J. Talati, Rebecca Reimers, Scott D. Kahn, Chester Brown, Terri Helman Finkel, M. Bailey, Stephen F. Kingsmore, Kristen M. Wigby, Tom Defay, Ammira Al‐Shabeeb Akil, Liana Protopsaltis, Meredith S. Wright, Lauren Stoddard

November 1, 2025article en

4 citations

Abstract

No abstract available for this paper.

BMJ OpenVol. 15(11)

Children’s Institute (US), University of Tennessee Health Science Center (US), Alexion Pharmaceuticals (United States) (US), Sunesis (United States) (US)

Amgen, AstraZeneca, Sanofi, Alexion Pharmaceuticals, Ultragenyx Pharmaceutical, Ionis Pharmaceuticals, Sarepta Therapeutics, Inozyme Pharma, National Institutes of Health, University of California, San Diego, National Center for Advancing Translational Sciences

Openalex Percentile: Top 3%

Genomics and Rare Diseases

7.27

DOI Open Access PDF OpenAlex

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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 — Kee Chan, Ajay J. Talati, et al. · BMJ Open (2025) | TGRS Research Map | TGRS