Boardman, Felicity K., Young, Philip J. and Griffiths, Frances (2017) Population screening for spinal muscular atrophy : a mixed methods study of the views of affected families. American Journal of Medical Genetics (Part A), 173 (2). pp. 421-434. doi:10.1002/ajmg.a.38031 ISSN 1552-4825.

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Abstract

Autosomal recessive conditions are a significant health burden with few treatments. Population carrier screening has been suggested as a means to tackle them. Little is known about the views of affected families despite the potential for direct impacts on them. Data are presented on attitudes among families affected by Spinal Muscular Atrophy (SMA) toward two population screening programs, pre-conception, and prenatal. Data were gathered through qualitative interviews (n = 36) and a survey (n = 337). Eighty-two survey participants had SMA and 255 were family members. The majority were in favor of screening (75%). Reasons for supporting pre-conception screening support were a belief that it would reduce SMA-related terminations and raise awareness of SMA in the population. For prenatal screening, reasons for support included a belief in the importance of informed decision-making and the need to reduce suffering. Key reasons for non-support of pre-conception screening included concerns about carrier stigmatization and social engineering. For prenatal screening, concerns focused on the collateral loss of high quality of life lives affected by SMA. This study highlights that those affected by SMA are predominantly in favor of screening, although pre-conception screening is most favored. While family members and adults with SMA had largely consistent views, perceptions varied according to the severity (type) of SMA, with those affected by SMA type II the least likely to support screening. These findings suggest that screening for SMA is a complex issue for affected families, underscoring the need to consider and include their views when planning and implementing screening programs. © 2016 Wiley Periodicals, Inc.

Item Type:	Journal Article
Divisions:	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
Journal or Publication Title:	American Journal of Medical Genetics (Part A)
Publisher:	Wiley-Blackwell Publishing Ltd.
ISSN:	1552-4825
Official Date:	February 2017
Dates:	Date Event February 2017 Published 28 October 2016 Available 7 October 2016 Accepted
Volume:	173
Number:	2
Page Range:	pp. 421-434
DOI:	10.1002/ajmg.a.38031
Status:	Peer Reviewed
Publication Status:	Published
Access rights to Published version:	Restricted or Subscription Access
Date of first compliant deposit:	11 October 2016
Date of first compliant Open Access:	28 October 2017
Funder:	Economic and Social Research Council (Great Britain) (ESRC)
Grant number:	ES/K002090/1
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