International perspectives of extended genetic sequencing when used as part of newborn screening to identify cystic fibrosis.

Corinna Clark, Pru Holder, Felicity Boardman, Louise Moody, Jacqui Cowlard, Lorna Allen, Claire Walter, James R. Bonham, Jane Chudleigh

Research output: Contribution to journalArticlepeer-review

Abstract

There is increasing interest in using extended genetic sequencing (EGS) in newborn screening (NBS) for cystic fibrosis (CF). How this is implemented will change the number of children being given an uncertain outcome of CRMS/CFSPID (cystic fibrosis transmembrane conductance regu-lator (CFTR)-related metabolic syndrome/CF Screen Positive Inconclusive Diagnosis), probable carrier results, and the number of missed CF diagnoses. An international survey of CF health professionals was used to gather views on two approaches to EGS—specific (may reduce detection of CRMS/CFSID but miss some CF cases) versus sensitive (may increase detection of CRMS/CFSPID but avoid missing more CF cases). Health professionals acknowledged the anxiety caused to parents (and health professionals) from the uncertainty surrounding the prognosis and management of CRMS/CFSPID. However, most preferred the sensitive approach, as overall, identifying more cases of CRMS/CFSPID was viewed as less physically and psychologically dam-aging than a missed case of CF. The importance of early diagnosis and treatment for CF to ensure better health outcomes and reducing diagnostic odysseys for parents were highlighted. A poten-tial benefit to identifying more children with CRMS/CFSPID included increasing knowledge to obtain a better understanding of how these children should best be managed in the future.
Original languageEnglish
Article number31
Number of pages15
JournalInternational Journal of Neonatal Screening
Volume10
Issue number2
DOIs
Publication statusPublished - 8 Apr 2024

Bibliographical note

Copyright: © 2024 by the authors. Licensee MDPI, Basel, Swierland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (hps://creativecommons.org/licenses/by/4.0/)

Funder

This research was funded by NHS England/Department of Health and Social Care, grant number CFNGS. The article processing charge was funded by NHS England/Department of Health
and Social Care.

Keywords

  • cystic fibrosis
  • next-generation sequencing
  • genomics
  • CRMS/CFSPID

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