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Last Posted: Jul 26, 2022
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What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions
FK Boardman et al, EJHG, September 27, 2021

This study explores the concept of seriousness through the perspectives of people with a range of ‘clinically serious’ conditions (fragile X conditions, spinal muscular atrophy, cystic fibrosis, hemophilia, thalassemia). Attitudes towards suffering, quality of life (QoL) and selective pregnancy termination were elucidated from 45 in-depth qualitative interviews and 469 postal/online surveys. The majority of participants reported good health/wellbeing, and the capacity for good QoL, despite experiencing suffering with their condition.


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