Sara Pessano, Maria Boldor, Francesca Faravelli, Michelle Fiander, Karsten Juhl Jørgensen, Roger F Soll, Matteo Bruschettini
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Next-generation sequencing (NGS) techniques for pre-symptomatic identification of genetic diseases in newborns.
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.
期刊介绍:
The Cochrane Database of Systematic Reviews (CDSR) stands as the premier database for systematic reviews in healthcare. It comprises Cochrane Reviews, along with protocols for these reviews, editorials, and supplements. Owned and operated by Cochrane, a worldwide independent network of healthcare stakeholders, the CDSR (ISSN 1469-493X) encompasses a broad spectrum of health-related topics, including health services.