Challenges of using whole genome sequencing in population newborn screening

Author:

Horton Rachel,Wright Caroline F,Firth Helen V,Turnbull Clare,Lachmann Robin,Houlston Richard S,Lucassen Anneke

Funder

Wellcome Trust

Publisher

BMJ

Reference27 articles.

1. Public Health England. Newborn blood spot screening: programme overview. 2018. https://www.gov.uk/guidance/newborn-blood-spot-screening-programme-overview#conditions-screened-for2018

2. UK Government. Over £175 million for cutting edge genomics research. Press release, 13 Dec 2022. https://www.gov.uk/government/news/over-175-million-for-cutting-edge-genomics-research

3. Davis L. Whole genome sequencing of all UK newborns ‘would have public support. Guardian 2021 Jul 4. https://www.theguardian.com/science/2021/jul/04/whole-genome-sequencing-of-all-uk-newborns-would-have-public-support#

4. Genomics England. Newborn genomes programme. 2021. https://files.genomicsengland.co.uk/documents/Newborns-Vision-Final_SEP.pdf

5. Newborns set to go through groundbreaking DNA tests that spot rare diseases. The Sun 2019 Nov 5. https://www.thesun.co.uk/news/10286545/new-nhs-dna-check-for-newborns/

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