Parental and public views on genomic newborn screening: a systematic review

Eur J Hum Genet. 2026 Jul 4. doi: 10.1038/s41431-026-02173-z. Online ahead of print.

ABSTRACT

The potential integration of whole genome sequencing (WGS) into the UK newborn screening programme (NBS) represents a major advancement in population health genomics. Multiple studies have assessed professionals’ opinions on the healthcare system’s readiness for this change. Parental and public views are under-represented and limited regional and national assessments have been undertaken. This study systematically reviews qualitative literature exploring public and parental views of genomic newborn screening (gNBS) to identify potential barriers and enablers of its uptake. Using thematic synthesis of seventeen studies from five countries, key themes emerged around preconceptions about individual’s benefits and costs of engaging and assumptions about the design of gNBS services. Participants generally recognised the benefits of early diagnosis and medical intervention but expressed concerns about psychological impacts, data privacy, and the scope of screened conditions. Views were shaped by limited public understanding of genomics, with misconceptions potentially influencing consent decisions. This research highlights a preference for flexible, tiered screening options and the importance of inclusive, multimodal communication strategies delivered pre- and perinatally by trusted healthcare professionals. Equitable access and robust privacy protections were identified as critical for public trust. These findings underscore the importance of co-designing gNBS implementation with stakeholders to ensure informed, voluntary participation and maximise public health benefits. This systematic review informs policymakers and healthcare providers about public attitudes, which are essential for shaping ethically responsible and socially acceptable genomic screening programmes.

PMID:42401744 | DOI:10.1038/s41431-026-02173-z