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Next-generation sequencing (NGS) techniques for pre-symptomatic identification of genetic diseases in newborns

Year: 2025

Type: article

Abstract: OBJECTIVES: This is a protocol for a Cochrane Review (intervention). The objectives are as follows: To evaluate the benefits and harms of using NGS techniques compared to conventional newborn screening alone for pre-symptomatic identification of genetic diseases in newborns. SECONDARY OBJECTIVES: to explore equity and ethical issues in the application of the new techniques, to inform healthcare decisions by families, carers, and policymakers.

Source: Cochrane Database of Systematic Reviews

DOI: 10.1002/14651858.cd016118

Authors: Sara Pessano, Maria Boldor, Francesca Faravelli, Michelle Fiander, Karsten Juhl Jørgensen, Roger F Soll, Matteo Bruschettini

Institutions: University of Pavia, Istituto Giannina Gaslini, Centre Hospitalier Universitaire de Reims, Vermont Oxford Network, University of Southern Denmark, Cochrane, University of Vermont, University of Vermont Medical Center, Lund University, Skåne University Hospital

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4409221342

FWCI:

Cites: 45

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Related to: 10