Boardman, Felicity K., Sadler, Chloe and Young, Philip J. (2018) Newborn genetic screening for spinal muscular atrophy in the UK : the views of the general population. Molecular Genetics and Genomic Medicine, 6 (1). pp. 99-108. doi:10.1002/mgg3.353 ISSN 2324-9269.

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Abstract

Background:

Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routinescreening programme for SMA in the UK. Lack of treatments, and the inability of the screening test to accurately predict disease severity are among the key reasons screening programmes have faltered in the UK. With the recent release of the first therapy for SMA (Nusinersen) calls are being made for a reconsideration of this stance, however very little is known about the views of the general public.

Methods:

An online survey was administered to 232 individuals with no prior relationship to SMA to assess their attitudes towards a newborn screening programme for it. Results were compared with previously gathered data on the views of SMA families.

Results:

84% of participants were in favour of newborn screening. Key reasons for support were a belief that it would lead to better healthcare and life expectancy for affected infants and facilitate informed decision-making for future pregnancies. Key reasons for non-support were a belief in the potential for significant negative impact on the family in terms of bonding and stress.

Conclusions:

Public acceptability is a key component in the evaluation of any potential screening programme in the UK. This study demonstrates that newborn screening for SMA is viewed largely positively by people unfamiliar with the condition. Indeed, a belief in the centrality of early identification overrode all other social and ethical concerns about screening, for the majority of participants.

Item Type:	Journal Article
Subjects:	R Medicine > RA Public aspects of medicine > RA0421 Public health. Hygiene. Preventive Medicine
Divisions:	Faculty of Science, Engineering and Medicine > Science > Life Sciences (2010- ) Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Health Sciences > Social Science & Systems in Health (SSSH) Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School
Library of Congress Subject Headings (LCSH):	Spinal muscular atrophy -- Testing -- Public opinion -- Great Britain, Genetic screening
Journal or Publication Title:	Molecular Genetics and Genomic Medicine
Publisher:	Wiley
ISSN:	2324-9269
Official Date:	January 2018
Dates:	Date Event January 2018 Published 23 November 2017 Available 27 October 2017 Accepted
Volume:	6
Number:	1
Page Range:	pp. 99-108
DOI:	10.1002/mgg3.353
Status:	Peer Reviewed
Publication Status:	Published
Access rights to Published version:	Open Access (Creative Commons)
Date of first compliant deposit:	27 October 2017
Date of first compliant Open Access:	12 February 2018
RIOXX Funder/Project Grant:	Project/Grant ID RIOXX Funder Name Funder ID ES/K002090/1 [ESRC] Economic and Social Research Council http://dx.doi.org/10.13039/501100000269

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