Principles of Genomic Newborn Screening Programs: A Systematic Review.

ABSTRACT:

Importance

Genomic newborn screening (gNBS) may optimize the health and well-being of children and families. Screening programs are required to be evidence based, acceptable, and beneficial.

Objectives

To identify what has been discovered following the reporting of the first gNBS pilot projects and to provide a summary of key points for the design of gNBS.

Evidence review

A systematic literature review was performed on April 14, 2021, identifying 36 articles that addressed the following questions: (1) what is the interest in and what would be the uptake of gNBS? (2) what diseases and genes should be included? (3) what is the validity and utility of gNBS? and (4) what are the ethical, legal, and social implications? Articles were only included if they generated new evi

SUBMITTER: Downie L 

PROVIDER: S-EPMC8293022 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature