Work

Newborn genome screening (the Generation Study): the advent of presymptomatic diagnosis for genodermatoses

Year: 2025

Type: article

Abstract: This article highlights the groundbreaking potential of the Newborn Generation Study, a pioneering initiative by Genomics England in partnership with NHS England. The study aims to sequence the genomes of 100 000 newborn babies to detect treatable genetic conditions, marking a significant leap forward in genomic medicine and newborn screening.

Source: British Journal of Dermatology

DOI: 10.1093/bjd/ljaf234

Authors: Neil Rajan, Hiva Fassihi, David Bick

Institutions: Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle University, Guy's and St Thomas' NHS Foundation Trust, Genomics England

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

Funders: National Institute for Health and Care Research, Manchester Biomedical Research Centre