Impairment Experiences, Identity and Attitudes Towards Genetic Screening: the Views of People with Spinal Muscular Atrophy
AuthorBoardman, FK; Young, PJ; Griffiths, FE
Source TitleJournal of Genetic Counseling
University of Melbourne Author/sGriffiths, Frances
Document TypeJournal Article
CitationsBoardman, F. K., Young, P. J. & Griffiths, F. E. (2018). Impairment Experiences, Identity and Attitudes Towards Genetic Screening: the Views of People with Spinal Muscular Atrophy. JOURNAL OF GENETIC COUNSELING, 27 (1), pp.69-84. https://doi.org/10.1007/s10897-017-0122-7.
Access StatusOpen Access
Developments in genetics are rapidly changing the capacity and scope of screening practices. However, people with genetic conditions have been under-represented in the literature exploring their implications. This mixed methods study explores the attitudes of people with Spinal Muscular Atrophy (SMA) towards three different population-level genetic screening programmes for SMA: pre-conception, prenatal and newborn screening. Drawing on qualitative interviews (n = 15) and a survey (n = 82), this study demonstrates that more severely affected individuals with early-onset symptoms (Type II SMA), are less likely to support screening and more likely to view SMA positively than those with milder, later onset and/or fluctuating symptoms (Types III/ IV SMA). Indeed, this clinically milder group were more likely to support all forms of screening and view SMA negatively. This paper highlights that screening is a complex issue for people with genetic conditions, and the nature of impairment experiences plays a critical role in shaping attitudes.
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