Sebastian Lunke, Sophie E Bouffler, Lilian Downie, Jade Caruana, David J Amor, Alison Archibald, Yvonne Bombard, John Christodoulou, Marc Clausen, Paul De Fazio, Ronda F Greaves, Sebastian Hollizeck, Anaita Kanga-Parabia, Nitzan Lang, Fiona Lynch, Riccarda Peters, Simon Sadedin, Erin Tutty, Stefanie Eggers, Crystle Lee, Meaghan Wall, Alison Yeung, Clara Gaff, Christopher Gyngell, Danya F Vears, Stephanie Best, Ilias Goranitis, Zornitza Stark
INTRODUCTION: Newborn bloodspot screening (NBS) is a highly successful public health programme that uses biochemical and other assays to screen for severe but treatable childhood-onset conditions. Introducing genomic sequencing into NBS programmes increases the range of detectable conditions but raises practical and ethical issues. Evidence from prospectively ascertained cohorts is required to guide policy and future implementation. This study aims to develop, implement and evaluate a genomic NBS (gNBS) pilot programme...
April 3, 2024: BMJ Open