TY  - JOUR
AU  - Boardman, FK
AU  - Young, PJ
AU  - Griffiths, FE
Y2  - 2020/12/21
Y1  - 2018/02/01
SN  - 1059-7700
UR  - http://hdl.handle.net/11343/257122
AB  - 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.
LA  - English
PB  - WILEY
T1  - Impairment Experiences, Identity and Attitudes Towards Genetic Screening: the Views of People with Spinal Muscular Atrophy
DO  - 10.1007/s10897-017-0122-7
IS  - Journal of Genetic Counseling
VL  - 27
IS  - 1
SP  - 69-84
L1  - /bitstream/handle/11343/257122/PMC5794814.pdf?sequence=1&isAllowed=y
ER  -