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01-10-2016 | Review Paper

A Review on Spinal Muscular Atrophy: Awareness, Knowledge, and Attitudes

Authors: Rebecca R. Moultrie, Julia Kish-Doto, Holly Peay, Megan A. Lewis

Published in: Journal of Genetic Counseling | Issue 5/2016

Abstract

Spinal Muscular Atrophy (SMA) is one of the most common genetic causes of infant death. There is presently no cure, but the therapeutic pipeline is promising. Given the prevalence of SMA coupled with the potential for new treatment options, universal carrier screening, and newborn screening, we conducted a literature review of the awareness, knowledge, and attitudes held by the public and non-geneticist clinicians about various aspects of SMA. We then identify recommendations for targeting additional research, training, and educational efforts to increase awareness. In the limited available literature, we found that the public is generally unfamiliar with SMA but has favorable views of carrier and newborn screening. Clinicians also had limited understanding of SMA. Further research into knowledge and attitudes of healthcare providers and the general public will help develop a better understanding of education gaps and inform outreach efforts. These educational efforts are needed to complement the momentum as treatments are being developed and tested. Furthermore, professional societies are proposing routine carrier screening and SMA may achieve newborn screening status, which will change the SMA landscape for genetics professionals and families. Thus, it is important to explore knowledge and attitudes about SMA to allow us to prepare for when SMA attains higher public and clinician recognition.

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Title: A Review on Spinal Muscular Atrophy: Awareness, Knowledge, and Attitudes
Authors: Rebecca R. Moultrie
Julia Kish-Doto
Holly Peay
Megan A. Lewis
Publication date: 01-10-2016
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 5/2016
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-016-9955-8

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