University Library
  • Login
A gateway to Melbourne's research publications
Minerva Access is the University's Institutional Repository. It aims to collect, preserve, and showcase the intellectual output of staff and students of the University of Melbourne for a global audience.
View Item 
  • Minerva Access
  • Medicine, Dentistry & Health Sciences
  • Melbourne Medical School
  • General Practice
  • General Practice - Research Publications
  • View Item
  • Minerva Access
  • Medicine, Dentistry & Health Sciences
  • Melbourne Medical School
  • General Practice
  • General Practice - Research Publications
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

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

    Thumbnail
    Download
    Published version (195.8Kb)

    Citations
    Scopus
    Web of Science
    Altmetric
    13
    10
    Author
    Boardman, FK; Young, PJ; Griffiths, FE
    Date
    2017-06-01
    Source Title
    American Journal of Medical Genetics Part A
    Publisher
    WILEY
    University of Melbourne Author/s
    Griffiths, Frances
    Affiliation
    General Practice
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Boardman, F. K., Young, P. J. & Griffiths, F. E. (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. https://doi.org/10.1002/ajmg.a.38220.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/255190
    DOI
    10.1002/ajmg.a.38220
    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 been largely 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 toward pre-conception and prenatal genetic screening for SMA among 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 toward newborn screening. The majority (70%) of participants were in favor, however, all subgroups (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 program. 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.

    Export Reference in RIS Format     

    Endnote

    • Click on "Export Reference in RIS Format" and choose "open with... Endnote".

    Refworks

    • Click on "Export Reference in RIS Format". Login to Refworks, go to References => Import References


    Collections
    • Minerva Elements Records [45689]
    • General Practice - Research Publications [513]
    Minerva AccessDepositing Your Work (for University of Melbourne Staff and Students)NewsFAQs

    BrowseCommunities & CollectionsBy Issue DateAuthorsTitlesSubjectsThis CollectionBy Issue DateAuthorsTitlesSubjects
    My AccountLoginRegister
    StatisticsMost Popular ItemsStatistics by CountryMost Popular Authors