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Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved]

Background: Prenatal exome sequencing (ES) for the diagnosis of fetal anomalies was implemented nationally in England in October 2020 by the NHS Genomic Medicine Service (GMS). The GMS is based around seven regional Genomic Laboratory Hubs (GLHs). Prenatal ES has the potential to significantly impro...

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Principais autores: Melissa Hill, Sian Ellard, Naomi Fulop, Jane Fisher, Mark Kroese, Marian Knight, Kerry Leeson-Beevers, Jean Ledger, Dominic McMullan, Alec McEwan, Stephen Morris, Rhiannon Mellis, Dagmar Tapon, Michael Parker, Laura Blackburn, Holly Walton, Emma Baple, Caroline Lafarge, Asya Choudry, Emma Smith, Michelle Peter, Hannah McInnes-Dean, Lauren Roberts, Rema Ramakrishnan, Sarah L. Wynn, Beverly Searle, Lyn S. Chitty, Wing Han Wu
Format: Artigo
Sprog:Inglês
Udgivet: F1000 Research Ltd 2022-07-01
Serier:NIHR Open Research
Fag:
prenatal exome sequencing
genomic medicine service
ethics
counselling
study protocol
mixed methods
eng
Online adgang:https://openresearch.nihr.ac.uk/articles/2-10/v2
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