Skip to content Skip to navigation
University of Warwick
  • Study
  • |
  • Research
  • |
  • Business
  • |
  • Alumni
  • |
  • News
  • |
  • About

University of Warwick
Publications service & WRAP

Highlight your research

  • WRAP
    • Home
    • Search WRAP
    • Browse by Warwick Author
    • Browse WRAP by Year
    • Browse WRAP by Subject
    • Browse WRAP by Department
    • Browse WRAP by Funder
    • Browse Theses by Department
  • Publications Service
    • Home
    • Search Publications Service
    • Browse by Warwick Author
    • Browse Publications service by Year
    • Browse Publications service by Subject
    • Browse Publications service by Department
    • Browse Publications service by Funder
  • Help & Advice
University of Warwick

The Library

  • Login
  • Admin

Newborn screening for spinal muscular atrophy : the views of affected families and adults

Tools
- Tools
+ Tools

Boardman, Felicity K., Young, Philip J. and Griffiths, Frances (2017) Newborn screening for spinal muscular atrophy : the views of affected families and adults. American Journal of Medical Genetics Part A, 173 (6). pp. 1546-1561. doi:10.1002/ajmg.a.38220

[img]
Preview
PDF
WRAP-newborn-screening-spinal-muscular-atrophy-Boardman-2017.pdf - Accepted Version - Requires a PDF viewer.

Download (759Kb) | Preview
[img]
Preview
PDF
WRAP_Newborn screening paper figures.pdf - Supplemental Material - Requires a PDF viewer.

Download (462Kb) | Preview
Official URL: http://doi.org/10.1002/ajmg.a.38220

Request Changes to record.

Abstract

Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant death worldwide. However, due to a lack of treatments, SMA has historically fallen short of Wilson-Jungner criteria. While studies have explored the acceptability of expanded newborn screening to the general public, the views of affected families have largely been overlooked. This is in spite of the potential for direct impacts on them and their unique positioning to consider the value of early diagnosis. We have previously reported data on attitudes towards pre-conception and prenatal genetic screening for SMA amongst affected families (adults with SMA (n=82) and family members (n=255)). Here, using qualitative interview (n= 36) and survey data (n= 337), we report the views of this same cohort towards newborn screening. The majority (70%) of participants were in favour, however, all sub-groups (except adults with type II) preferred pre-conception and/or prenatal screening to newborn screening. Key reasons for newborn screening support were: 1) the potential for improved support 2) the possibility of enrolling pre-symptomatic children on clinical trials. Key reasons for non-support were: 1) concerns about impact on the early experiences of the family 2) inability to treat. Importantly, participants did not view the potential for inaccurate typing as a significant obstacle to the launch of a population-wide screening programme. This study underscores the need to include families affected by genetic diseases within consultations on screening. This is particularly important for conditions such as SMA which challenge traditional screening criteria, and for which new therapeutics are emerging.

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 > Medicine > Warwick Medical School > Health Sciences
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): Medical screening, Newborn infants -- Spinal muscular atrophy -- Diagnosis
Journal or Publication Title: American Journal of Medical Genetics Part A
Publisher: John Wiley & Sons, Inc.
ISSN: 1552-4825
Official Date: June 2017
Dates:
DateEvent
June 2017Published
4 April 2017Available
21 February 2017Accepted
Volume: 173
Number: 6
Page Range: pp. 1546-1561
DOI: 10.1002/ajmg.a.38220
Status: Peer Reviewed
Publication Status: Published
Access rights to Published version: Restricted or Subscription Access
Funder: Economic and Social Research Council (Great Britain) (ESRC)
Grant number: ES/K002090/1
Related URLs:
  • Publisher

Request changes or add full text files to a record

Repository staff actions (login required)

View Item View Item

Downloads

Downloads per month over past year

View more statistics

twitter

Email us: wrap@warwick.ac.uk
Contact Details
About Us