Challenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers.

ABSTRACT:

Abstract

Objective

To evaluate systematic review approaches to synthesising evidence for policy advisers who are considering whether to screen newborns for hundreds of rare diseases using whole genome sequencing.

Design

Series of systematic reviews and roadmap for evidence generation for policy advisers.

Data sources

Medline, Embase, Science Citation Index, Cochrane Library.

Methods

200 conditions included in Genomics England's Generation Study were stratified into five groups and one condition randomly selected from each group using criteria designed to maximise variability and availability of data. 30 systematic reviews were undertaken (five conditions, six review questions) about penetrance, detection rate, accuracy, benefit of earlier treatment, and

SUBMITTER: Freeman K 

PROVIDER: S-EPMC12658509 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature