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<p>The integration of genomic sequencing into newborn screening (genomic newborn screening; gNBS) has the potential to identify more presymptomatic babies who could benefit from early intervention compared to traditional universal newborn screening (NBS). Realizing these benefits requires careful navigation of ethical, legal, and social implications (ELSI) to minimize harms, promote equity, and maintain trust in NBS programs. The primary objective of this scoping review is to synthesize the ELSI discussed in the gNBS literature, to support implementation and identify knowledge gaps. A secondary objective is to characterize the landscape and contours of the gNBS field. This review, conducted in July 2025, includes academic literature addressing genomic sequencing as a first‑line NBS screen. ELSI were identified within each publication, and these informed the development of a set of decision points with ELSI dimensions within gNBS. A total of 485 publications met inclusion criteria, with the first published in 1987. The volume of publications increased over time, with growing proportions of empirical studies and work associated with gNBS projects, alongside a decreasing proportion of publications from North America. In total, 3781 ELSI considerations were charted using AI-assisted methods, relevant to 59 decision points organized into nine areas. Current scholarship is concentrated on early implementation questions, while long‑term operational needs—such as data stewardship, clinical follow‑up, and sustainable governance—remain underexplored. These gaps, together with limited contributions from many regions due to a multitude of factors, highlight the need for more diverse, empirically grounded, and forward‑looking research to support responsible decisions around gNBS.</p>

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Genomic newborn screening: a scoping review of the field’s evolution and associated ethical, legal, and social implications

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年5月8日

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  • Gemma L. Brown,
  • Loren Walker,
  • Mutiat A. Afolabi,
  • Paul A. Bain,
  • Ana Bonilha,
  • Bimal P. Chaudhari,
  • John Christodoulou,
  • Ziyi Dai,
  • Jan M. Friedman,
  • Amy Gaviglio,
  • Robert C. Green,
  • Subhashini Jagu,
  • Bartha M. Knoppers,
  • Ainsley J. Newson,
  • Zornitza Stark,
  • Danya F. Vears,
  • Aliza Wilson,
  • Yvonne Bombard,
  • Anna C. F. Lewis

摘要

The integration of genomic sequencing into newborn screening (genomic newborn screening; gNBS) has the potential to identify more presymptomatic babies who could benefit from early intervention compared to traditional universal newborn screening (NBS). Realizing these benefits requires careful navigation of ethical, legal, and social implications (ELSI) to minimize harms, promote equity, and maintain trust in NBS programs. The primary objective of this scoping review is to synthesize the ELSI discussed in the gNBS literature, to support implementation and identify knowledge gaps. A secondary objective is to characterize the landscape and contours of the gNBS field. This review, conducted in July 2025, includes academic literature addressing genomic sequencing as a first‑line NBS screen. ELSI were identified within each publication, and these informed the development of a set of decision points with ELSI dimensions within gNBS. A total of 485 publications met inclusion criteria, with the first published in 1987. The volume of publications increased over time, with growing proportions of empirical studies and work associated with gNBS projects, alongside a decreasing proportion of publications from North America. In total, 3781 ELSI considerations were charted using AI-assisted methods, relevant to 59 decision points organized into nine areas. Current scholarship is concentrated on early implementation questions, while long‑term operational needs—such as data stewardship, clinical follow‑up, and sustainable governance—remain underexplored. These gaps, together with limited contributions from many regions due to a multitude of factors, highlight the need for more diverse, empirically grounded, and forward‑looking research to support responsible decisions around gNBS.