Newborn genome screening (the Generation Study): the advent of presymptomatic diagnosis for genodermatoses
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.
Authors
- Hiva Fassihi (ORCID: https://orcid.org/0000-0002-2601-1715)
- David Bick (ORCID: https://orcid.org/0000-0002-8750-306X)
- Neil Rajan (ORCID: https://orcid.org/0000-0002-5850-5680)
Institutions
- Guy's and St Thomas' NHS Foundation Trust (GB)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- Clinical Research Institute (US)
- Genomics England (GB)
- University of Newcastle Australia (AU)
- Newcastle University (GB)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2025-06-20
- DOI
- https://doi.org/10.1093/bjd/ljaf234
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institute for Health and Care Research
- Manchester Biomedical Research Centre