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 language | English |
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Article number | 31 |
Number of pages | 15 |
Journal | International Journal of Neonatal Screening |
Volume | 10 |
Issue number | 2 |
DOIs | |
Publication status | Published - 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 Healthand Social Care.
Keywords
- cystic fibrosis
- next-generation sequencing
- genomics
- CRMS/CFSPID